NF1 (neurofibromin 1)

Gene

• Entrez ID: 4763
• Gene name: Neurofibromin 1
• Gene symbol: NF1
• Synonyms (NCBI Gene): NFNS, VRNF, WSS
• Chromosome: 17
• Chromosome location: 17q11.2
• Summary: This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subj

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2230852	C>A,T	Benign-likely-benign, pathogenic, benign	Coding sequence variant, genic downstream transcript variant, stop gained, synonymous variant
rs112306990	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, missense variant
rs137854550	A>C,G	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs137854551	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs137854552	C>A,T	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant
rs137854553	T>A,C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs137854554	A>C,T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs137854555	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs137854556	G>A,C,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs137854557	A>G	Pathogenic	Coding sequence variant, missense variant
rs137854558	T>C	Pathogenic	Coding sequence variant, missense variant
rs137854559	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs137854560	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs137854561	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs137854562	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, genic downstream transcript variant
rs137854563	T>C,G	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs137854564	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs137854565	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs137854566	T>A,C,G	Pathogenic, not-provided	Coding sequence variant, missense variant, genic downstream transcript variant
rs141382637	T>A,C	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained, genic downstream transcript variant
rs141897690	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs143502927	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs145891889	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs146624509	C>A,T	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained, genic downstream transcript variant
rs147955381	C>A,T	Benign-likely-benign, likely-benign, likely-pathogenic	Missense variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs148736217	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, genic downstream transcript variant, coding sequence variant
rs149739570	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs181397225	T>A,C	Likely-benign, pathogenic	Synonymous variant, stop gained, genic downstream transcript variant, coding sequence variant
rs199474728	G>A	Conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, coding sequence variant
rs199474729	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs199474730	T>C	Likely-pathogenic, not-provided	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474732	C>G,T	Likely-pathogenic, not-provided, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474737	T>C,G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199474738	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474741	T>G	Likely-pathogenic, not-provided	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474742	C>G,T	Likely-pathogenic, pathogenic, not-provided, pathogenic-likely-pathogenic	Missense variant, stop gained, genic downstream transcript variant, coding sequence variant
rs199474743	A>G	Pathogenic, not-provided	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474745	G>C	Likely-pathogenic, not-provided	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474746	C>A,G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474747	T>C,G	Likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474748	G>A	Pathogenic, not-provided	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474750	G>A,C,T	Pathogenic, conflicting-interpretations-of-pathogenicity, not-provided, likely-pathogenic	Missense variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs199474751	G>A,C	Uncertain-significance, pathogenic, not-provided	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474752	G>A,C	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs199474754	A>C,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474756	T>C,G	Uncertain-significance, likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199474758	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs199474760	A>G	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474761	T>C	Likely-pathogenic, not-provided	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474762	T>C,G	Likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474774	T>C,G	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474778	G>A,C	Not-provided, pathogenic	Missense variant, stop gained, genic downstream transcript variant, coding sequence variant
rs199474781	A>G,T	Pathogenic, not-provided	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474785	C>T	Likely-pathogenic, pathogenic, not-provided	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474786	T>C	Likely-pathogenic, pathogenic, not-provided	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474789	C>G,T	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474790	A>C,G	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474791	T>C	Likely-pathogenic, pathogenic, not-provided	Missense variant, genic downstream transcript variant, coding sequence variant
rs199474792	T>C	Not-provided, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs199966218	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs201047812	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs201624827	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201824349	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs267604791	G>A,C	Pathogenic	Splice donor variant
rs267606595	A>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs267606596	->C	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs267606597	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs267606598	T>A,C	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs267606599	G>A,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs267606600	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs267606601	->A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs267606602	A>G	Pathogenic	Intron variant
rs267606603	G>A,T	Pathogenic	Splice donor variant
rs267606604	A>G	Pathogenic	Intron variant, genic downstream transcript variant
rs267606605	->T,TT	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs267606606	AAT>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs267606607	GAA>-	Likely-pathogenic, pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs267606608	->TG	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs267606609	GC>AA	Pathogenic	Coding sequence variant, missense variant
rs267606610	A>C	Pathogenic	Intron variant, genic downstream transcript variant
rs371544233	A>G,T	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs371578074	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs371599283	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs374014162	C>A,G,T	Pathogenic, uncertain-significance	Intron variant, genic downstream transcript variant
rs375188075	C>G,T	Pathogenic, uncertain-significance	Intron variant
rs376576925	C>A,T	Pathogenic, uncertain-significance, likely-benign	Genic downstream transcript variant, synonymous variant, stop gained, coding sequence variant
rs397514641	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs533210843	C>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs538708444	T>A,C	Pathogenic	Intron variant
rs555635097	C>A,T	Pathogenic, likely-benign	Genic downstream transcript variant, synonymous variant, stop gained, coding sequence variant
rs557875547	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs560262404	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs567988442	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs587778548	G>A,T	Not-provided, pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs587781502	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs587781517	G>A,C,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs587781577	G>A,C,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs587781747	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs587781780	->AAT	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs587781807	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs587781933	->A	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs587782088	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs587782814	T>C,G	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant
rs587782819	AAG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs745804540	T>A,C,G	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs746824139	C>T	Pathogenic	Coding sequence variant, stop gained
rs747241884	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs747307832	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs747382969	C>G,T	Pathogenic	Intron variant, genic downstream transcript variant
rs751729752	GTT>-	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs752039618	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs752318318	C>G,T	Pathogenic, uncertain-significance	Intron variant, genic downstream transcript variant
rs753036396	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs753054046	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs753224880	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs753245823	T>A,C	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant
rs753463683	C>G,T	Pathogenic, uncertain-significance	Intron variant, genic downstream transcript variant
rs753529924	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs753797445	C>A,G,T	Pathogenic	Intron variant
rs754023358	C>A,G,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant
rs754511534	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs755135948	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, genic downstream transcript variant
rs755501749	G>A,C,T	Likely-pathogenic	Coding sequence variant, synonymous variant, genic downstream transcript variant, missense variant
rs755620051	C>A,T	Pathogenic	Intron variant, genic downstream transcript variant
rs755749772	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs758206740	T>C,G	Pathogenic	Intron variant
rs758419553	A>C,G,T	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs758893131	A>C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs758915600	A>G,T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs760703505	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs761512189	T>A,C	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs762735676	TTT>-,TTTT	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant, inframe deletion
rs763983337	A>C,G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs764079291	C>T	Pathogenic	Coding sequence variant, stop gained
rs764783865	T>C,G	Likely-benign, pathogenic	Intron variant, genic downstream transcript variant
rs765425127	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs766011053	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs767805288	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs768638173	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs768777585	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs769048538	C>G,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs769223408	T>A,C,G	Pathogenic	Genic downstream transcript variant, intron variant
rs770211384	C>A,T	Pathogenic	Genic downstream transcript variant, intron variant
rs771115661	TCTC>-,TC	Pathogenic	Frameshift variant, coding sequence variant
rs771529172	G>A,C,T	Uncertain-significance, pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs771597781	G>A	Uncertain-significance, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs771764281	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs771820789	G>A,T	Pathogenic, likely-benign	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs772295894	C>A,G	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs772348111	A>G,T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs773097190	T>C,G	Uncertain-significance, pathogenic	Genic downstream transcript variant, intron variant
rs773151680	G>A,C,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs773710071	A>G	Pathogenic	Genic downstream transcript variant, intron variant
rs774893767	G>C,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs775181940	T>A,C	Pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs775670722	T>C,G	Pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs777759192	A>G,T	Pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs777872719	A>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs778325867	T>A,C	Pathogenic	Genic downstream transcript variant, intron variant
rs778405030	C>T	Pathogenic	Stop gained, coding sequence variant
rs778963145	->A	Pathogenic	Frameshift variant, coding sequence variant
rs786201367	C>T	Pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs786201874	TGTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs786202023	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs786202112	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs786202180	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs786202457	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs786202782	ACTA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs786202954	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs786203390	G>C,T	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs786203443	C>G,T	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs786203448	C>T	Pathogenic	Coding sequence variant, stop gained
rs786203500	->TTATTACGAATTG	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs786203570	C>A,T	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs786203614	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs786203684	C>G,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, intron variant
rs786203806	GCTGTCATTGCCTTCCGTT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs786203896	G>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs786203950	C>T	Pathogenic	Coding sequence variant, stop gained
rs786204059	GA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs786204154	TGAGCAT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs786204157	A>C,G	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs786204207	T>C	Not-provided, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs786204211	T>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs786204253	T>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs786204255	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs797044942	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs797045139	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs863224445	T>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs863224446	G>A,C	Likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs863224447	G>C,T	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs863224488	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs863224489	G>A	Pathogenic	Coding sequence variant, stop gained
rs863224490	GA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs863224491	A>C,G	Pathogenic	Genic downstream transcript variant, intron variant
rs863224492	G>A,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs863224493	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs863224660	G>A,T	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs863224835	AA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs863224837	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs863224944	A>-	Pathogenic	Genic downstream transcript variant, intron variant
rs864622107	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs864622142	T>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs864622161	G>A	Pathogenic	Splice donor variant
rs864622431	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs864622509	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs864622551	G>A	Pathogenic	Genic downstream transcript variant, intron variant
rs864622639	AACTTT>-	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, inframe deletion
rs866445127	C>G,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs867391752	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs876657714	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs876657715	->A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs876658207	TAGC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs876658235	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs876658245	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs876658492	T>-,TT	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs876658541	C>A,G,T	Likely-benign, pathogenic	Missense variant, synonymous variant, stop gained, genic downstream transcript variant, coding sequence variant
rs876658570	T>G	Pathogenic	Coding sequence variant, stop gained
rs876658693	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs876658853	T>A,C,G	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs876658854	G>A,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice donor variant
rs876658946	T>G	Uncertain-significance, pathogenic	Genic downstream transcript variant, intron variant
rs876658997	T>C,G	Likely-pathogenic, uncertain-significance, pathogenic	Genic downstream transcript variant, splice donor variant
rs876659061	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs876659070	C>G,T	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs876659289	C>A,T	Likely-benign, likely-pathogenic	Synonymous variant, genic downstream transcript variant, coding sequence variant, stop gained
rs876659471	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs876659543	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs876659768	C>G,T	Likely-benign, pathogenic	Synonymous variant, genic downstream transcript variant, coding sequence variant, stop gained
rs876659964	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs876660099	T>A,G	Pathogenic	Coding sequence variant, stop gained
rs876660135	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs876660141	G>A,C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs876660206	G>C	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs876660212	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs876660286	TC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs876660428	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs876660444	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs876660580	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs876660595	G>A,T	Uncertain-significance, likely-pathogenic	Splice acceptor variant
rs876660696	G>A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs876660782	G>A,C,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs876660826	T>C,G	Pathogenic	Genic downstream transcript variant, splice donor variant
rs876660931	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant
rs878853025	TCTTA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs878853865	C>A,T	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs878853871	TCAGGATAGTGCA>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, splice acceptor variant, intron variant
rs878853875	T>-	Pathogenic	Genic downstream transcript variant, splice donor variant
rs878853877	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs878853880	T>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs878853881	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs878853883	G>C	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs878853884	C>G,T	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs878853890	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs878853891	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs878853892	G>A,T	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs878853893	A>C,G	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs878853894	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs878853896	->A	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs878853900	G>C	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs878853903	T>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs878853904	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs878853909	G>T	Pathogenic	Coding sequence variant, stop gained
rs878853913	CA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs878853917	G>-	Pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs878853918	->C	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs878853922	A>G	Pathogenic	Splice acceptor variant
rs886039548	G>A,T	Pathogenic	Splice donor variant
rs886041347	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs886041348	->A	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs886041435	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs886041630	A>-	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs894292181	C>T	Pathogenic	Coding sequence variant, stop gained
rs915463951	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs940581106	T>A,C	Pathogenic	Intron variant
rs948982039	T>C,G	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant
rs953440640	C>A,T	Pathogenic, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1057517848	A>G	Pathogenic	Genic downstream transcript variant, intron variant
rs1057517967	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs1057518134	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057518326	G>A,C	Likely-pathogenic, pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1057518360	A>G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1057518475	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057518792	G>A,C	Likely-pathogenic, pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1057518807	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1057518842	T>G	Likely-pathogenic, pathogenic	Genic downstream transcript variant, intron variant
rs1057518884	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057518904	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1057518974	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1057519369	->G	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057519370	G>-	Pathogenic-likely-pathogenic	Coding sequence variant, splice donor variant
rs1057520575	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057521097	T>G	Pathogenic	Coding sequence variant, stop gained
rs1057521098	A>G	Likely-pathogenic, pathogenic	Intron variant
rs1057521848	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057523533	G>A,C,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs1060500242	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1060500245	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1060500253	G>A,C	Likely-pathogenic, uncertain-significance	Intron variant
rs1060500254	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1060500255	C>A,G,T	Pathogenic, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant, stop gained
rs1060500266	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1060500268	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060500271	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060500273	G>A,C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1060500274	G>A,C,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1060500276	AAT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs1060500278	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1060500284	G>A,C	Likely-pathogenic, uncertain-significance	Intron variant
rs1060500286	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1060500292	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060500295	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060500296	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1060500300	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060500301	TGGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060500307	->TTAT	Pathogenic	Frameshift variant, coding sequence variant
rs1060500308	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1060500312	A>C,G	Likely-pathogenic, pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1060500319	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1060500320	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060500321	GA>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1060500323	TGG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1060500324	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs1060500327	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060500331	G>A,C,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1060500333	T>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1060500335	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060500338	TT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060500342	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs1060500344	A>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs1060500345	G>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, splice donor variant
rs1060500346	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1060500347	G>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1060500349	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060500352	G>A,C,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs1060500353	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060500354	->TA	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060500355	G>A,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice donor variant
rs1060500356	G>A,C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1060500357	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1060500358	A>G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1060500359	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1060500360	A>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1060500363	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1060500364	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060500367	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1060500368	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1060500370	G>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1060500374	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant, stop gained
rs1060500376	G>A,C,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1060500378	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs1060500385	C>G,T	Pathogenic, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant, stop gained
rs1060500387	AG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060503922	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs1064794273	G>A	Pathogenic	Coding sequence variant, stop gained
rs1064794274	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1064794275	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1064794276	TTTG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064794277	G>A,C,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1064794278	->A,AA	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064794756	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs1064795136	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064795492	CCCT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064795730	CCAATGCTAT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064795966	G>A	Pathogenic-likely-pathogenic, uncertain-significance	Genic downstream transcript variant, intron variant
rs1064796077	GG>AA	Pathogenic	Coding sequence variant, genic downstream transcript variant, splice donor variant
rs1064796137	TTGGAA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1064796331	G>CA	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064796631	AAAAGAT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064796633	A>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1064796700	T>C,G	Likely-pathogenic, uncertain-significance	Splice donor variant
rs1064796843	TC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064796946	TGT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs1085307459	CTCT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1085307461	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1085307506	CAG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs1085307728	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1085307819	G>A,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice donor variant
rs1085307885	A>G	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, intron variant
rs1131691066	G>A	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant
rs1131691067	A>G	Pathogenic	Intron variant
rs1131691068	AACCCAAGGCAGTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691069	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691071	CATTGCCTTCCGT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691072	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1131691073	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1131691074	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1131691075	G>A,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1131691076	GC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691077	A>G	Likely-pathogenic, pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1131691078	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691079	C>A,G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic	Genic downstream transcript variant, intron variant
rs1131691080	G>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs1131691081	TCTTCT>G,TCT	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant, genic downstream transcript variant, inframe deletion
rs1131691082	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691083	ATAC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691084	GAGA>-,GA	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691085	G>A	Pathogenic	Coding sequence variant, stop gained
rs1131691087	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant, stop gained
rs1131691088	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691089	A>G,T	Likely-pathogenic, pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1131691090	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1131691091	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1131691092	AA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691093	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1131691094	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant
rs1131691095	T>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1131691096	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, splice donor variant, synonymous variant
rs1131691098	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691099	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1131691100	A>G,T	Likely-pathogenic, pathogenic, likely-benign	Splice acceptor variant
rs1131691102	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691103	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs1131691104	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1131691105	A>C,G	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1131691106	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691107	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691108	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691109	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691112	T>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1131691113	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691114	G>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1131691115	G>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1131691116	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691117	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1131691118	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1131691119	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691120	AAGTTGCTTGG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, splice donor variant
rs1131691121	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs1131691122	G>A,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice donor variant
rs1131691123	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs1131691125	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691126	G>A	Pathogenic	Coding sequence variant, stop gained
rs1131691127	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1131691128	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1131691129	C>-,CC	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691130	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1131691131	G>A,C,T	Likely-pathogenic	Splice acceptor variant
rs1131691133	->TTTAA	Pathogenic	Inframe indel, coding sequence variant, genic downstream transcript variant, stop gained
rs1131691610	G>T	Pathogenic	Coding sequence variant, stop gained
rs1131691777	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1131691844	T>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1131691994	C>G	Pathogenic	Coding sequence variant, stop gained
rs1135402787	AACA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1135402788	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1135402789	TTAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1135402790	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1135402791	T>C	Likely-pathogenic	Splice donor variant
rs1135402792	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1135402793	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1135402795	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1135402796	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1135402797	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1135402799	G>A,C,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1135402800	GTCCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1135402802	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1135402803	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1135402804	CTAAGATTGATGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1135402805	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1135402806	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1135402808	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1135402810	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1135402811	AGTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1135402813	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant
rs1135402814	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1135402815	G>T	Pathogenic	Coding sequence variant, stop gained
rs1135402817	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1135402818	T>-	Likely-pathogenic	Splice donor variant
rs1135402819	ATAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1135402820	G>A	Pathogenic	Coding sequence variant, stop gained
rs1135402822	GTAAG>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant, genic downstream transcript variant
rs1135402823	ACG>CC	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402825	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402826	T>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1135402827	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1135402828	ACACAT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs1135402829	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402830	A>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs1135402832	T>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1135402833	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402836	G>A,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1135402837	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402838	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402839	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant, stop gained
rs1135402840	T>A,G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, stop gained
rs1135402841	T>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1135402842	->CTGT	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402844	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402848	TTCCTTGTTCTCAGTGG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402849	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402850	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1135402851	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402852	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402855	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402856	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402857	C>A,G,T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, stop gained
rs1135402859	->AT	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402860	T>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1135402861	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402863	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant, stop gained
rs1135402865	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs1135402867	T>-,TT	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402868	TCTATA>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs1135402869	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1135402871	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs1135402872	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1135402873	ATGTCCCT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402874	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402875	CG>T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402876	A>G,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1135402877	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402878	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402879	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1135402880	T>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402881	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1135402883	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402884	C>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, stop gained
rs1135402885	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402887	TCAGT>A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402888	->A	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402889	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402890	CCGGG>-	Pathogenic	Inframe indel, coding sequence variant, genic downstream transcript variant, stop gained
rs1135402891	G>C,T	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant, stop gained
rs1135402892	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402893	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402894	T>A,C	Likely-pathogenic, pathogenic	Genic downstream transcript variant, splice donor variant
rs1135402895	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402897	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402898	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1135402900	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs1135402901	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1135402902	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402903	G>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1135402904	CT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1135402905	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402906	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402907	AG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1135402908	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1164081667	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1179712488	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1187097568	A>G	Pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1193716348	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1198491194	T>A,G	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1202226733	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1241158120	T>C,G	Pathogenic	Genic downstream transcript variant, intron variant
rs1241533665	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs1243948503	T>A	Pathogenic	Intron variant
rs1252674239	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1253123816	G>-,GG	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1270674587	A>G,T	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, missense variant
rs1279529138	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1282299543	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1316926587	C>T	Pathogenic	Coding sequence variant, stop gained
rs1321848637	CTCA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1329683225	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1348129244	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1411146465	T>A	Pathogenic	Intron variant, genic downstream transcript variant
rs1418965797	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1420779915	G>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1422333640	T>A,C	Likely-pathogenic	Synonymous variant, genic downstream transcript variant, missense variant, coding sequence variant
rs1428885377	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1430634618	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1438566555	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1450743199	T>G	Pathogenic	Genic downstream transcript variant, intron variant
rs1462287670	C>A,T	Pathogenic	Stop gained, synonymous variant, genic downstream transcript variant, coding sequence variant
rs1466912192	C>G,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1475358670	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533265	A>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555533284	->TA	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533285	C>G	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555533290	T>-	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555533292	T>C,G	Uncertain-significance, pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs1555533297	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555533323	CA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533326	GTG>CTTA	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533336	->CGACA	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533354	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555533359	->T	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533363	AG>CCC	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533366	->CG	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533368	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533382	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533393	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533409	->A	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533416	T>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555533543	TTAATTCTTCTCCACTTCACCCCGTCACCACCACTTTCCAGGTTGGTTCTACTGCTGTCCAAGT>-	Pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant, coding sequence variant
rs1555533548	A>G,T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555533549	G>-	Pathogenic	Splice acceptor variant, genic downstream transcript variant, coding sequence variant
rs1555533550	T>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555533552	TT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533555	C>G	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555533561	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533562	->GGGCA	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533566	TT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533569	C>A,T	Uncertain-significance, likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs1555533621	TATC>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533628	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533636	GT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533641	CTG>T	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533644	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533648	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533650	CT>-	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555533842	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533843	A>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555533853	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555533856	->T	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533871	->ATTA	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, inframe indel
rs1555533875	T>C,G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555533880	TC>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533882	AG>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533883	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555533887	T>C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1555534307	TTTTGCGGGGGAGTGGGAGTGGGTTATACCTGTGTACACACACATAAATGTACATTAACTCTACATAAATTTGAAAGCCTGAGGAGAGATGAGATGATACACCAATGTTAATACAGTTTTCATTTTGTGGTGATGCTTTCCTTTTACCAAACTTTCTATGATTACCACATTTCCTTTTATAATGAGAATAAAACAACTTTTTAACAAGAAAGGACTAAAATGGAGGAAAATAAGACAAAACTTTTCAAAAATTGG	Pathogenic	Intron variant, coding sequence variant, splice donor variant, splice acceptor variant, genic downstream transcript variant
rs1555534375	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555534378	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555534379	T>-	Likely-pathogenic, pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555534380	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555534393	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555534433	G>A	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs1555534595	A>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555534596	G>A,C	Likely-pathogenic, pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555534609	->G	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555534611	->G	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555534618	->G	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555534621	T>C	Pathogenic-likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555534661	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555534667	A>C,T	Uncertain-significance, pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs1555534673	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555534677	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555534680	->AT	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555534697	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555534712	->T	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555534735	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555534751	->GG	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555534755	CTGG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555534766	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555534775	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555534859	C>A,T	Uncertain-significance, pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs1555534893	A>G	Uncertain-significance, likely-pathogenic	Intron variant, genic downstream transcript variant
rs1555534913	A>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555534917	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555534918	C>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555534919	A>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555534928	T>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1555534929	T>-	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1555534948	TCC>-	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, inframe indel
rs1555534950	->GGAAA	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555534952	TCATGGGCAGAT>ATGAGAC	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, inframe indel
rs1555534955	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555534964	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555534966	A>G	Pathogenic	Intron variant, genic downstream transcript variant
rs1555535027	->G	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555535032	TTAC>-	Likely-pathogenic, pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555535041	->C	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555535042	C>-	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555535044	CA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555535050	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555535052	->TA	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555535053	T>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555535163	GTAG>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555535171	->TA	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555535177	TTCAGCAGGTACCGCA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555535192	TAGATAGT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555535195	T>C,G	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs1555535403	TATTTATGGCAATCCGGAATCCTCTGG>-	Pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant
rs1555535416	CT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555535417	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555535434	->T,TT	Pathogenic	Frameshift variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555535448	TGGTTGGACA>CAGC	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe indel
rs1555535455	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555536027	TG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555536030	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555536035	G>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555536334	CTTTCAGGA>T	Likely-pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant, coding sequence variant
rs1555536340	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555536352	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555536358	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555536359	C>A,T	Likely-benign, pathogenic	Synonymous variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555536367	->T	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555536372	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555536380	G>T	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs1555536683	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555536685	T>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555536687	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555536689	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555536701	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555536724	T>G	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555536765	AA>-,AAA	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555536773	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1555536868	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555536882	->T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555536923	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555536928	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555536947	AA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555537029	A>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555537032	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555604877	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555604897	->GT	Pathogenic	Frameshift variant, coding sequence variant
rs1555604899	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1555604935	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555604939	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555604941	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555604942	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555605362	G>C	Pathogenic	Splice acceptor variant
rs1555605393	T>A,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1555605398	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555605404	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555605406	T>A,C,G	Pathogenic	Splice donor variant
rs1555605409	G>A,T	Pathogenic	Intron variant
rs1555606053	TA>-	Pathogenic	Stop gained, coding sequence variant
rs1555606061	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555606080	->TT	Pathogenic	Frameshift variant, coding sequence variant
rs1555606098	TTTTATTTTCTCTCAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555606137	G>A,T	Pathogenic	Splice donor variant
rs1555607073	C>A,G,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1555607093	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555607102	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555607107	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555607110	T>-	Pathogenic	Stop gained, coding sequence variant
rs1555607112	T>G	Pathogenic	Stop gained, coding sequence variant
rs1555607123	G>TTAA	Likely-pathogenic	Coding sequence variant, inframe indel
rs1555607126	G>A,T	Pathogenic	Splice donor variant
rs1555608647	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555608663	->GG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555608734	A>C	Pathogenic-likely-pathogenic	Splice acceptor variant
rs1555608736	G>-	Pathogenic	Stop gained, coding sequence variant
rs1555608737	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555608740	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1555608763	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555608924	A>C,G,T	Pathogenic	Splice acceptor variant
rs1555608925	GA>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1555608928	G>A	Pathogenic	Splice acceptor variant
rs1555608970	C>G,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1555608972	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555610774	CTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGGCGCCTGTAAACCCAGCTACTCTGGAGGCTGAGGCGGGAGAATCGCTTGACCCTGGGAGGCAGAGGTTGCAATGAGCCAAGATCGTGCCTTTGTACTCCAGCCTGGGCAACAGAGGAAGACACCATCTTGGGAAAAAAAAAAAAAAGAAGTTCAGAAAACAGCTTGTTTGGGAAGGACTGTTTTTTGTATTCCTTTAATAATTCAATAAAGAAAATA	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1555610848	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555610854	AC>TT	Pathogenic	Stop gained, coding sequence variant
rs1555610860	TT>A	Pathogenic	Frameshift variant, coding sequence variant
rs1555610879	->CAGA	Pathogenic	Frameshift variant, coding sequence variant
rs1555610881	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555610884	C>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1555610893	GT>-	Pathogenic	Stop gained, coding sequence variant
rs1555610896	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555610898	C>A,T	Uncertain-significance, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1555610900	TTAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555610903	CT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs1555610905	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555610910	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555610955	G>C	Likely-pathogenic	Splice acceptor variant
rs1555610971	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555610972	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555610984	TCAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555611004	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555611037	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555611039	AAGGT>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1555611043	T>G	Pathogenic	Splice donor variant
rs1555611089	T>A,C	Likely-benign, pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1555611093	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555611098	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555611105	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555611110	T>G	Likely-pathogenic	Splice donor variant
rs1555611570	T>A	Pathogenic	Stop gained, coding sequence variant
rs1555611584	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555611590	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555611610	T>C	Likely-pathogenic	Splice donor variant
rs1555612266	A>G,T	Likely-pathogenic	Splice acceptor variant
rs1555612270	CATTTAAAGAAAAAGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555612273	AG>T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555612274	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555612286	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555612288	T>C,G	Uncertain-significance, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1555612289	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555612294	AGTA>-	Likely-pathogenic	Splice donor variant, intron variant
rs1555612815	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555612857	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555612859	C>A,G	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1555612866	G>A	Likely-pathogenic, not-provided	Splice donor variant
rs1555612867	T>C	Likely-pathogenic	Splice donor variant
rs1555613185	G>A,T	Pathogenic	Splice acceptor variant
rs1555613206	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1555613421	CGG>-	Likely-pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant
rs1555613427	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555613430	T>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555613543	C>G,T	Uncertain-significance, likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs1555613558	->T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555613567	G>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555613573	C>G,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555613741	A>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555613743	G>A	Pathogenic-likely-pathogenic, pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555613773	->A	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555613784	G>C,T	Uncertain-significance, pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs1555613786	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555613795	AT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555613810	->AC	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555613811	CCTCTGT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555613816	T>A	Likely-pathogenic, pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555613821	->T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555613831	CA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555613838	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555613843	G>A,C	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs1555613896	->CTTATCAGGTTCTCCATTGGCAGGCAGGGCTCTAAGTGCAGTAACTTGATTTGCTGTTGTATTTGCTTAGGAAGAGCAGCACTTCAGAAAAGAGTGATGGCACTGCTGAGGCGCATTGAGCATCCCACTGCAGGAAACACTGAGGTATGCCCTTAGCAACAGAAACACCCCTCCCAGGCGCCCACCCTCAATTTGGAAGCCTCTTGTTACATATGTGTGATCAGGAATAGCTTTTGAAGTAAATCCAAGATAC	Pathogenic	Intron variant, coding sequence variant, splice donor variant, splice acceptor variant, genic downstream transcript variant
rs1555613926	->CTGCAGG	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555613932	G>A,T	Likely-pathogenic, pathogenic	Synonymous variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1555613933	G>A,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1555613975	A>G	Likely-pathogenic, pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555613983	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555613999	C>A,T	Uncertain-significance, pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs1555614011	A>-,AA	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614016	G>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614022	G>A,C,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1555614169	TTACATTTTTTGTACTTTTGTCATGGAAGAAATGTTGGATAAAGCATAATTTGTCAAGTCTCAACTAATTAAGGTTTAATTCATGCTTTGCACAAAAATTTTGTGTTTAGGCTGCTGAAAGCCTTCACAAGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACAGACTCCCTACAGGAATGGATCAACATGACTGGCTTCCTTTGTGCCCTTGGGGGAGTGTGCC	Pathogenic	Intron variant, coding sequence variant, splice donor variant, splice acceptor variant, genic downstream transcript variant
rs1555614180	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614207	C>G,T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs1555614211	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555614226	G>A,C	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555614229	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555614260	G>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614261	C>T	Pathogenic, pathogenic-likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555614284	->T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555614293	CCTGTCAGCA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614296	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614310	->T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614313	->G	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614319	->A	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614338	T>C,G	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555614342	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555614343	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614354	->C	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614358	->G	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614386	->ACGAGTGTCTGCGTATATCTGTATGCTTATTTGGCTCTATGCCTGTGGGTGCACTTACTCTGTGTGTTTAGATCAGTCAGTTTCATCTCTCTAGGGGGTCTGTCTTCTGGGCATTGATGGCAAATCATTAATGTATTTGTTCTTTCTTTAGGTTTTATTGACTGATACCAATACTCAATTTGTAGAACAAACCATAGCTATAATGAAGAACTTGCTAGATAATCATACTGAAGGCAGCTCTGAACATCTAGGG	Pathogenic	Intron variant, coding sequence variant, splice donor variant, splice acceptor variant, genic downstream transcript variant
rs1555614418	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614423	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614426	CTCAA>TGG	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614429	->G	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614437	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614438	T>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555614448	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614453	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614455	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555614458	->CA	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614460	T>G	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555614462	G>A,C,T	Uncertain-significance, likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555614464	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs1555614495	A>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555614514	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614521	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614526	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614527	->GGAGAGATGACCTCTCATTTTGC	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614529	A>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555614535	->T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614549	G>A	Pathogenic	Intron variant, genic downstream transcript variant
rs1555614611	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555614624	G>-	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555614635	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555614642	ACCAA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614652	G>A,C,T	Uncertain-significance, likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555614653	G>A	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs1555614825	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614833	T>C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555614845	->CC	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614848	C>A,T	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555614851	->T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555614858	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555614862	->GGAAGCC	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614866	CA>-	Likely-pathogenic, pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614867	A>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555614914	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555614918	AT>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614934	A>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614940	G>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555614947	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555614963	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555614966	->GT	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555614972	C>G	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555614977	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555615004	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555615026	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555615032	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555615039	C>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555615103	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555615109	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555615111	T>C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555615114	A>T	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs1555615431	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555615445	->T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555615447	CTCTACCAACTGCTCTGGAACATGTTTTCTAAAGAAGTAGA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555615458	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555615462	ATGTT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555615467	->T	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555615469	AAGTAGAATTG>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555615472	CT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555615495	T>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555615549	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555615559	->T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555615567	T>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555617328	G>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555617354	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555617364	->A	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555617368	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555617383	G>A,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1555618489	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555618492	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555618494	C>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555618511	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555618515	A>G	Pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555618516	G>C	Uncertain-significance, likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555618518	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555618536	AC>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555618542	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555618552	->AC	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555618566	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555618572	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs1555618634	A>C,G	Likely-pathogenic, pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555618656	A>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555618693	T>C,G	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs1555618803	->T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555618806	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555618821	TA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555618862	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555618994	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs1555618996	A>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555618999	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555619001	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555619029	C>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555619033	->A	Likely-pathogenic, pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555619041	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555619051	C>G,T	Uncertain-significance, pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs1555619052	A>-,AA	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555619056	G>A,C	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs1555619391	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555619395	GA>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555619397	->GA	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555619402	AAGTATTT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555619404	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555619407	C>G,T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555619413	TTATT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555619416	T>A,C,G	Likely-pathogenic, likely-benign, pathogenic	Synonymous variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1555619420	->G	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567611351	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567611375	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567611380	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567611457	ATA>T	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567611534	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567611604	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567612415	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567612435	->CCTA	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567612483	->G	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567612488	ACCTTCATGCACCAGGAGT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567612531	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567612647	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567613569	G>C	Likely-pathogenic, pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1567613604	->G	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567613616	T>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1567613682	TTGTCTCTATTAGTAAGACA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567615766	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567615852	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567615872	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567615902	C>G	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567615941	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567616894	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567617045	->GTTGTTACTTTCTTAGTAGCCACAGGTCCGCTCTCCCTTAGAGC	Pathogenic	Stop gained, genic downstream transcript variant, inframe insertion, coding sequence variant
rs1567617129	CT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567617158	T>G	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1567617371	G>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567617727	C>G,T	Uncertain-significance, pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs1567617849	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567617877	GTCT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567618250	->TCAA	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567619134	GTAAG>-	Pathogenic	Splice donor variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1567620403	C>A,T	Uncertain-significance, likely-pathogenic	Synonymous variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1567623480	AACA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567623508	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567626632	TAA>AG	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567626919	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567626945	C>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567627138	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1567627210	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567627217	C>G	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567627268	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567627286	G>T	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs1567627709	T>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567627751	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567627755	T>-	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567814432	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567814497	G>T	Pathogenic	Stop gained, coding sequence variant
rs1567814632	GAGT>-	Pathogenic	Splice donor variant, intron variant
rs1567816131	G>C,T	Pathogenic	Splice donor variant
rs1567817841	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567817865	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567817974	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567818033	G>A	Pathogenic	Intron variant
rs1567820688	A>G	Pathogenic	Splice acceptor variant
rs1567825858	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567825887	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567826110	G>A	Pathogenic	Stop gained, coding sequence variant
rs1567826633	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567826819	GAAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567834983	A>-	Pathogenic	Splice acceptor variant
rs1567835161	GCAAGTAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567835183	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567838293	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567838311	->T	Pathogenic	Stop gained, coding sequence variant
rs1567841799	T>A	Pathogenic	Stop gained, coding sequence variant
rs1567843917	C>T	Pathogenic	Stop gained, coding sequence variant
rs1567843930	G>T	Pathogenic	Stop gained, coding sequence variant
rs1567843934	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567845057	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567845069	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567845116	T>G	Likely-pathogenic	Splice donor variant, coding sequence variant, missense variant
rs1567845818	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1567845900	AA>-,A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567845906	G>A	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567845935	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567845937	C>A,T	Likely-benign, pathogenic	Synonymous variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1567845945	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1567846609	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1567846634	AAGTTCC>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567846823	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs1567847384	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567847398	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567847538	AGCAGATATCCG>TGAAGTGTCT	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567847540	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567847571	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567847681	G>A,C	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1567847905	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567847962	TG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567847972	T>C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1567848100	G>A,C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1567848129	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567848147	GG>C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567848178	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567848213	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567848704	A>G	Pathogenic-likely-pathogenic	Intron variant, genic downstream transcript variant
rs1567848711	A>G,T	Likely-benign, pathogenic	Intron variant, genic downstream transcript variant
rs1567848731	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567848739	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567848755	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567848761	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567848878	->GG	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567848976	GGGTTCTA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567849199	A>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567849237	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567849596	T>A,C	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1567849864	C>G	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567849891	A>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567850984	G>A,C	Likely-pathogenic, pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1567851029	G>A,T	Uncertain-significance, pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant
rs1567851054	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567851231	G>-	Pathogenic	Splice acceptor variant, genic downstream transcript variant, coding sequence variant
rs1567851416	T>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1567851445	->A	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567851501	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567851532	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567852567	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567852753	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1567852849	G>A,C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1567858318	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1567858344	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1567861977	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1567862071	T>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1567862095	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, splice donor variant
rs1567862283	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1567862349	AAAGCAACTTTGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1567862353	A>T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1567862860	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1567862956	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1567862991	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1567863004	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1567863580	->GGCAACACTTCTTG	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1567863614	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1567863648	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1567864972	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1567864983	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1567865056	A>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1567865089	T>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597617010	G>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1597625799	A>-	Pathogenic	Coding sequence variant, stop gained
rs1597625887	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1597626031	C>-	Pathogenic	Coding sequence variant, stop gained
rs1597626161	T>G	Likely-pathogenic	Splice donor variant
rs1597629649	T>A	Pathogenic	Intron variant
rs1597629679	A>G	Pathogenic	Splice acceptor variant
rs1597629724	->CT	Pathogenic	Frameshift variant, coding sequence variant
rs1597629765	T>G	Pathogenic	Coding sequence variant, stop gained
rs1597629809	CTCTCAGTTGAT>TGAGAGAGA	Likely-pathogenic	Coding sequence variant, inframe indel
rs1597629882	T>A	Pathogenic	Coding sequence variant, stop gained
rs1597629884	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1597629895	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597635615	C>T	Pathogenic	Coding sequence variant, stop gained
rs1597635722	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597635740	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant
rs1597635745	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597635793	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597635825	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597636022	C>A	Risk-factor	Coding sequence variant, stop gained
rs1597643692	C>G	Pathogenic	Intron variant
rs1597643722	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1597643815	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597657969	TT>-	Pathogenic	Intron variant
rs1597658021	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1597658192	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597658505	CTTT>-	Pathogenic	Intron variant
rs1597658661	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1597658676	C>T	Pathogenic	Coding sequence variant, stop gained
rs1597659694	T>G	Pathogenic	Intron variant
rs1597659830	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597659879	->TT	Pathogenic	Frameshift variant, coding sequence variant
rs1597659893	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597659896	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1597660090	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597680816	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597680909	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597680938	T>A	Pathogenic	Coding sequence variant, stop gained
rs1597680978	CTGTGTAAAGCAAGTACTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597681200	G>A	Likely-pathogenic	Splice donor variant
rs1597681864	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597681960	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597682030	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597682137	C>T	Pathogenic	Coding sequence variant, stop gained
rs1597682159	->T	Pathogenic	Coding sequence variant, stop gained
rs1597682729	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1597682751	C>T	Pathogenic	Coding sequence variant, stop gained
rs1597688656	T>G	Pathogenic	Intron variant
rs1597688663	G>A	Likely-pathogenic, pathogenic	Intron variant
rs1597688674	T>A	Pathogenic	Intron variant
rs1597688786	CGGTTGAACT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597688896	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1597689068	T>-	Pathogenic	Splice donor variant
rs1597698310	AG>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1597698330	G>T	Pathogenic	Coding sequence variant, stop gained
rs1597703352	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597703530	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1597706578	A>G	Pathogenic	Intron variant
rs1597706592	A>G	Pathogenic	Intron variant
rs1597706610	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1597706620	A>T	Pathogenic	Splice acceptor variant
rs1597706737	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1597708542	T>C	Pathogenic	Intron variant, genic downstream transcript variant
rs1597708558	TGAA>-	Pathogenic	Intron variant, genic downstream transcript variant
rs1597708581	TACTGC>AAAA	Pathogenic	Intron variant, genic downstream transcript variant
rs1597708728	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597708762	->G	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597710342	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597710358	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597710409	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597710497	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597710658	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597710675	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597710690	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597710793	A>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1597710824	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597712251	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597712392	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597712398	->AAGCC	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597712403	->GCCCAGACCAA	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597712535	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597712619	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597712665	GTGCATAACCTCTTG>T	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597712699	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597712758	->G	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597713206	GCAGTAACTTGATTTGCTGTTGTATT>-	Pathogenic	Intron variant, genic downstream transcript variant
rs1597713259	G>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, genic downstream transcript variant
rs1597713360	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597713670	T>G	Pathogenic	Intron variant, genic downstream transcript variant
rs1597713777	T>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1597715031	A>G	Pathogenic	Intron variant, genic downstream transcript variant
rs1597715061	T>A	Pathogenic	Intron variant, genic downstream transcript variant
rs1597715102	AGACCATTGTTAAGAGGCGAATGTCCCATGTGAGTGGAGGAGGATCCATAGATTTGTCTGACACA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597715179	G>-	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597715284	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597715286	GGCTTCCT>AGCTTCCA	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1597715477	->TAAG	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597715490	->AGGGTTCTATGATT	Pathogenic	Inframe indel, coding sequence variant, stop gained, genic downstream transcript variant
rs1597715646	->TTGTCCTTAATGGTGTGTAACCATGAGAAAGTGGGACTTCAAAT	Pathogenic	Inframe insertion, coding sequence variant, stop gained, genic downstream transcript variant
rs1597715649	T>G	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597715673	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597715824	CATCAGC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597715874	->GGT	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, splice donor variant
rs1597715880	T>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1597716256	CTTT>-	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs1597716274	G>A,T	Likely-pathogenic, pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1597716378	CT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597716380	C>-	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597716393	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597716432	AA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597716466	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1597716765	T>-	Pathogenic	Intron variant, genic downstream transcript variant
rs1597716778	T>G	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs1597716817	CG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597716834	GG>TA	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597716910	GT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597716924	T>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597717471	T>G	Pathogenic	Intron variant, genic downstream transcript variant
rs1597717610	C>G	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597717672	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597717684	->TA	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597717694	T>-	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1597718735	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597718755	AT>TTCC	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597718765	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597719471	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597719490	->AACA	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597719498	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597719504	AG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597719535	->GTCT	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597719619	->GT	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597719643	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597719704	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1597720036	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597722374	A>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1597722429	TACTCTGTTTG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597722866	T>A	Pathogenic	Intron variant, genic downstream transcript variant
rs1597734976	T>G	Pathogenic	Intron variant, genic downstream transcript variant
rs1597735056	CTCCTTCAGATGAC>-	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597735166	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597735186	AT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597735273	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597745559	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597745583	->CCT	Likely-pathogenic	Inframe insertion, coding sequence variant, genic downstream transcript variant
rs1597745663	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597745689	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597745728	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597746884	T>G	Pathogenic	Intron variant, genic downstream transcript variant
rs1597746891	G>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1597746962	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597746982	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597747012	A>TG	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597748607	T>C	Pathogenic	Intron variant, genic downstream transcript variant
rs1597748617	AAG>-	Pathogenic	Intron variant, genic downstream transcript variant
rs1597748656	T>G	Pathogenic	Intron variant, genic downstream transcript variant
rs1597748663	T>-	Pathogenic	Intron variant, genic downstream transcript variant
rs1597748682	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597748742	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597748749	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597748782	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597748891	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597748995	T>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1597753176	GAAAAAGA>AAAAAGG	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597753208	GCTTTGAAAACGTTAAG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597753263	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597753353	GGA>AC	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597829519	CAAAT>ATATCAG	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597829557	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597829749	CGCTTTAA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597829782	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597829906	GT>-	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597829913	T>GGTTAC,TT	Pathogenic	Frameshift variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1597829961	T>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597829969	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597830046	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597830078	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597830232	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597831805	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs1597831854	CCAA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597831986	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597831990	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597832002	C>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597832021	->AG	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597832043	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597832056	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597832223	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597832235	C>G	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597832304	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597832360	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597832397	G>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1597832482	T>G	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597832498	G>A,T	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs1597834703	GCCAGTTACTAGAGACATCAGG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597834760	T>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597834820	CT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597834842	A>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597834952	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597834959	AAATCTA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597834988	A>T	Pathogenic	Intron variant, genic downstream transcript variant
rs1597839926	ATTT>-	Pathogenic	Intron variant, genic downstream transcript variant
rs1597840008	->TG	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597840055	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597840123	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597840273	TCTATTCA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597840291	GCAA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597842196	AGA>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, genic downstream transcript variant
rs1597842221	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597842697	C>A	Pathogenic	Intron variant, genic downstream transcript variant
rs1597842710	TT>GGC	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597842843	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597842936	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597843052	GT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597843096	->TTCC	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597843169	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597843186	GT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597843640	C>-	Pathogenic	Intron variant, genic downstream transcript variant
rs1597843675	A>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1597843782	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597843836	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597843853	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597843979	T>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597844547	A>G,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1597844556	C>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597844653	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597844692	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, splice donor variant
rs1597844950	T>G	Pathogenic	Intron variant, genic downstream transcript variant
rs1597844956	T>G	Pathogenic	Intron variant, genic downstream transcript variant
rs1597845013	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597845155	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597845213	TACCTGTTCCGCCCTCACTTCTCCCAAATATTTATGGTTCTCAAGTTGTAAAGCATATCTTTCATTTTTCTAAAAGACGTTTAAATTTGAGGTCAATGAAATATCTTATATGTTACTTATTAAGCCTTTAAAATGTATTTTGATTATTTATTGTAATTCTTTGAAGAAGTCTTCTCTAAAGAAGCTGTCTTTATATGTAAACTCTGATTACTTCATTAAGGAAGATGTCTTTAAAATAAAATATGTTGCCTCTTT	Pathogenic	Coding sequence variant, genic downstream transcript variant, splice donor variant, splice acceptor variant, intron variant
rs1597845883	T>G	Pathogenic	Intron variant, genic downstream transcript variant
rs1597845886	T>G	Pathogenic	Intron variant, genic downstream transcript variant
rs1597845926	->TT	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597846091	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597848201	ATAG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597848220	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597851210	T>G	Pathogenic	Intron variant, genic downstream transcript variant
rs1597851255	A>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1597851299	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597851351	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597851420	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597851443	T>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1597851489	A>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597858261	T>A	Pathogenic	Intron variant, genic downstream transcript variant
rs1597858284	T>A	Pathogenic	Intron variant, genic downstream transcript variant
rs1597858338	G>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic downstream transcript variant
rs1597858445	C>-	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597858459	CT>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597858594	AG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597859558	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597859566	TTAC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597859719	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597859768	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597859854	CTTCCTATAG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597859871	T>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597862010	AGGA>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic downstream transcript variant
rs1597862012	G>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1597862086	->GATA	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1597862293	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597865773	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597865858	->CT	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597866350	->CA	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597866378	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597866414	AA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597866554	AGGC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597866743	GTTTAC>TTTTAG	Pathogenic	Intron variant, genic downstream transcript variant
rs1597866792	C>G	Pathogenic	Intron variant, genic downstream transcript variant
rs1597866846	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1597866854	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597866872	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597866897	->A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597866921	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597866998	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597867032	TGTGT>ACAC	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, splice donor variant
rs1597868171	TG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597868244	CACCAC>A	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1597868312	T>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1597868727	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1597868832	A>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1597870141	TGATGCCTTG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005504	hsa-miR-10b-5p	GFP reporter assay, Luciferase reporter assay, Microarray, qRT-PCR	20550523
MIRT005504	hsa-miR-10b-5p	GFP reporter assay, Luciferase reporter assay, Microarray, qRT-PCR	20550523
MIRT007052	hsa-miR-370-3p	Luciferase reporter assay	23077663
MIRT051457	hsa-let-7e-5p	CLASH	23622248
MIRT041324	hsa-miR-193b-3p	CLASH	23622248
MIRT038968	hsa-miR-20a-3p	CLASH	23622248
MIRT053794	hsa-miR-9-5p	Luciferase reporter assay, qRT-PCR, Western blot	23185366
MIRT041324	hsa-miR-193b-3p	qRT-PCR, In situ hybridization, Luciferase reporter assay, Western blot	23335975
MIRT041324	hsa-miR-193b-3p	qRT-PCR, In situ hybridization, Luciferase reporter assay, Western blot	23335975
MIRT440123	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT145468	hsa-miR-193a-3p	HITS-CLIP	22473208
MIRT041324	hsa-miR-193b-3p	HITS-CLIP	22473208
MIRT145462	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT145463	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT727089	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT727088	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT440123	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT727089	hsa-miR-27a-3p	Luciferase reporter assay, qRT-PCR, Western blotting	32913547
MIRT727089	hsa-miR-27a-3p	Luciferase reporter assay, qRT-PCR, Flow cytometry	33534927
MIRT727088	hsa-miR-27b-3p	Luciferase reporter assay, qRT-PCR, Flow cytometry	33570696
MIRT1181393	hsa-miR-101	CLIP-seq
MIRT1181394	hsa-miR-1231	CLIP-seq
MIRT1181395	hsa-miR-1255a	CLIP-seq
MIRT1181396	hsa-miR-1255b	CLIP-seq
MIRT1181397	hsa-miR-1258	CLIP-seq
MIRT1181398	hsa-miR-1261	CLIP-seq
MIRT1181399	hsa-miR-1265	CLIP-seq
MIRT1181400	hsa-miR-1267	CLIP-seq
MIRT1181401	hsa-miR-1270	CLIP-seq
MIRT1181402	hsa-miR-1276	CLIP-seq
MIRT1181403	hsa-miR-1283	CLIP-seq
MIRT1181404	hsa-miR-129-5p	CLIP-seq
MIRT1181405	hsa-miR-1323	CLIP-seq
MIRT1181406	hsa-miR-140-3p	CLIP-seq
MIRT1181407	hsa-miR-144	CLIP-seq
MIRT1181408	hsa-miR-15a	CLIP-seq
MIRT1181409	hsa-miR-15b	CLIP-seq
MIRT1181410	hsa-miR-16	CLIP-seq
MIRT1181411	hsa-miR-195	CLIP-seq
MIRT1181412	hsa-miR-2392	CLIP-seq
MIRT1181413	hsa-miR-299-3p	CLIP-seq
MIRT1181414	hsa-miR-300	CLIP-seq
MIRT1181415	hsa-miR-3074-5p	CLIP-seq
MIRT1181416	hsa-miR-30a	CLIP-seq
MIRT1181417	hsa-miR-30b	CLIP-seq
MIRT1181418	hsa-miR-30c	CLIP-seq
MIRT1181419	hsa-miR-30d	CLIP-seq
MIRT1181420	hsa-miR-30e	CLIP-seq
MIRT1181421	hsa-miR-3136-5p	CLIP-seq
MIRT1181422	hsa-miR-3137	CLIP-seq
MIRT1181423	hsa-miR-3147	CLIP-seq
MIRT1181424	hsa-miR-3148	CLIP-seq
MIRT1181425	hsa-miR-3154	CLIP-seq
MIRT1181426	hsa-miR-3169	CLIP-seq
MIRT1181427	hsa-miR-3185	CLIP-seq
MIRT1181428	hsa-miR-330-3p	CLIP-seq
MIRT1181429	hsa-miR-338-5p	CLIP-seq
MIRT1181430	hsa-miR-3607-3p	CLIP-seq
MIRT1181431	hsa-miR-3664-5p	CLIP-seq
MIRT1181432	hsa-miR-3679-3p	CLIP-seq
MIRT1181433	hsa-miR-370	CLIP-seq
MIRT1181434	hsa-miR-3714	CLIP-seq
MIRT1181435	hsa-miR-381	CLIP-seq
MIRT1181436	hsa-miR-3918	CLIP-seq
MIRT1181437	hsa-miR-3920	CLIP-seq
MIRT1181438	hsa-miR-3927	CLIP-seq
MIRT1181439	hsa-miR-409-3p	CLIP-seq
MIRT1181440	hsa-miR-410	CLIP-seq
MIRT1181441	hsa-miR-424	CLIP-seq
MIRT1181442	hsa-miR-4261	CLIP-seq
MIRT1181443	hsa-miR-4288	CLIP-seq
MIRT1181444	hsa-miR-4303	CLIP-seq
MIRT1181445	hsa-miR-4307	CLIP-seq
MIRT1181446	hsa-miR-4311	CLIP-seq
MIRT1181447	hsa-miR-4425	CLIP-seq
MIRT1181448	hsa-miR-4434	CLIP-seq
MIRT1181449	hsa-miR-4436a	CLIP-seq
MIRT1181450	hsa-miR-4439	CLIP-seq
MIRT1181451	hsa-miR-4446-5p	CLIP-seq
MIRT1181452	hsa-miR-4464	CLIP-seq
MIRT1181453	hsa-miR-4491	CLIP-seq
MIRT1181454	hsa-miR-4496	CLIP-seq
MIRT1181455	hsa-miR-4512	CLIP-seq
MIRT1181456	hsa-miR-4513	CLIP-seq
MIRT1181457	hsa-miR-4516	CLIP-seq
MIRT1181458	hsa-miR-452	CLIP-seq
MIRT1181459	hsa-miR-4524	CLIP-seq
MIRT1181460	hsa-miR-4531	CLIP-seq
MIRT1181461	hsa-miR-4657	CLIP-seq
MIRT1181462	hsa-miR-4662a-3p	CLIP-seq
MIRT1181463	hsa-miR-4666-3p	CLIP-seq
MIRT1181464	hsa-miR-4666-5p	CLIP-seq
MIRT1181465	hsa-miR-4668-5p	CLIP-seq
MIRT1181466	hsa-miR-4676-3p	CLIP-seq
MIRT1181467	hsa-miR-4682	CLIP-seq
MIRT1181468	hsa-miR-4685-5p	CLIP-seq
MIRT1181469	hsa-miR-4699-3p	CLIP-seq
MIRT1181470	hsa-miR-4714-5p	CLIP-seq
MIRT1181471	hsa-miR-4716-3p	CLIP-seq
MIRT1181472	hsa-miR-4723-5p	CLIP-seq
MIRT1181473	hsa-miR-4728-5p	CLIP-seq
MIRT1181474	hsa-miR-4738-3p	CLIP-seq
MIRT1181475	hsa-miR-4748	CLIP-seq
MIRT1181476	hsa-miR-4760-3p	CLIP-seq
MIRT1181477	hsa-miR-4762-3p	CLIP-seq
MIRT1181478	hsa-miR-4786-3p	CLIP-seq
MIRT1181479	hsa-miR-486-5p	CLIP-seq
MIRT1181480	hsa-miR-487a	CLIP-seq
MIRT1181481	hsa-miR-494	CLIP-seq
MIRT1181482	hsa-miR-496	CLIP-seq
MIRT1181483	hsa-miR-497	CLIP-seq
MIRT1181484	hsa-miR-503	CLIP-seq
MIRT1181485	hsa-miR-548aa	CLIP-seq
MIRT1181486	hsa-miR-548g	CLIP-seq
MIRT1181487	hsa-miR-548o	CLIP-seq
MIRT1181488	hsa-miR-578	CLIP-seq
MIRT1181489	hsa-miR-582-5p	CLIP-seq
MIRT1181490	hsa-miR-583	CLIP-seq
MIRT1181491	hsa-miR-590-3p	CLIP-seq
MIRT1181492	hsa-miR-620	CLIP-seq
MIRT1181493	hsa-miR-632	CLIP-seq
MIRT1181494	hsa-miR-646	CLIP-seq
MIRT1181495	hsa-miR-665	CLIP-seq
MIRT1181496	hsa-miR-1205	CLIP-seq
MIRT1181497	hsa-miR-128	CLIP-seq
MIRT1181498	hsa-miR-135a	CLIP-seq
MIRT1181499	hsa-miR-135b	CLIP-seq
MIRT1181406	hsa-miR-140-3p	CLIP-seq
MIRT1181408	hsa-miR-15a	CLIP-seq
MIRT1181409	hsa-miR-15b	CLIP-seq
MIRT1181410	hsa-miR-16	CLIP-seq
MIRT1181500	hsa-miR-193b	CLIP-seq
MIRT1181411	hsa-miR-195	CLIP-seq
MIRT1181501	hsa-miR-199a-3p	CLIP-seq
MIRT1181502	hsa-miR-199b-3p	CLIP-seq
MIRT1181503	hsa-miR-19a	CLIP-seq
MIRT1181504	hsa-miR-19b	CLIP-seq
MIRT1181505	hsa-miR-27a	CLIP-seq
MIRT1181506	hsa-miR-27b	CLIP-seq
MIRT1181416	hsa-miR-30a	CLIP-seq
MIRT1181417	hsa-miR-30b	CLIP-seq
MIRT1181418	hsa-miR-30c	CLIP-seq
MIRT1181419	hsa-miR-30d	CLIP-seq
MIRT1181420	hsa-miR-30e	CLIP-seq
MIRT1181507	hsa-miR-3119	CLIP-seq
MIRT1181508	hsa-miR-3129-5p	CLIP-seq
MIRT1181509	hsa-miR-3183	CLIP-seq
MIRT1181510	hsa-miR-33a	CLIP-seq
MIRT1181511	hsa-miR-33b	CLIP-seq
MIRT1181512	hsa-miR-3647-3p	CLIP-seq
MIRT1181513	hsa-miR-3665	CLIP-seq
MIRT1181434	hsa-miR-3714	CLIP-seq
MIRT1181436	hsa-miR-3918	CLIP-seq
MIRT1181514	hsa-miR-3929	CLIP-seq
MIRT1181515	hsa-miR-3943	CLIP-seq
MIRT1181441	hsa-miR-424	CLIP-seq
MIRT1181516	hsa-miR-4272	CLIP-seq
MIRT1181517	hsa-miR-4274	CLIP-seq
MIRT1181518	hsa-miR-4418	CLIP-seq
MIRT1181519	hsa-miR-4419b	CLIP-seq
MIRT1181520	hsa-miR-4435	CLIP-seq
MIRT1181521	hsa-miR-4461	CLIP-seq
MIRT1181522	hsa-miR-4478	CLIP-seq
MIRT1181455	hsa-miR-4512	CLIP-seq
MIRT1181523	hsa-miR-4519	CLIP-seq
MIRT1181459	hsa-miR-4524	CLIP-seq
MIRT1181524	hsa-miR-4659a-5p	CLIP-seq
MIRT1181525	hsa-miR-4659b-5p	CLIP-seq
MIRT1181526	hsa-miR-4684-3p	CLIP-seq
MIRT1181468	hsa-miR-4685-5p	CLIP-seq
MIRT1181527	hsa-miR-4723-3p	CLIP-seq
MIRT1181474	hsa-miR-4738-3p	CLIP-seq
MIRT1181476	hsa-miR-4760-3p	CLIP-seq
MIRT1181528	hsa-miR-4793-5p	CLIP-seq
MIRT1181483	hsa-miR-497	CLIP-seq
MIRT1181484	hsa-miR-503	CLIP-seq
MIRT1181529	hsa-miR-509-3-5p	CLIP-seq
MIRT1181530	hsa-miR-509-5p	CLIP-seq
MIRT1181531	hsa-miR-5096	CLIP-seq
MIRT1181532	hsa-miR-513a-5p	CLIP-seq
MIRT1181533	hsa-miR-513c	CLIP-seq
MIRT1181534	hsa-miR-514b-5p	CLIP-seq
MIRT1181485	hsa-miR-548aa	CLIP-seq
MIRT1181486	hsa-miR-548g	CLIP-seq
MIRT1181535	hsa-miR-548t	CLIP-seq
MIRT1181536	hsa-miR-600	CLIP-seq
MIRT1181494	hsa-miR-646	CLIP-seq
MIRT1181537	hsa-miR-657	CLIP-seq
MIRT1181538	hsa-miR-944	CLIP-seq
MIRT1922284	hsa-miR-4452	CLIP-seq
MIRT1181429	hsa-miR-338-5p	CLIP-seq
MIRT2052509	hsa-miR-4716-5p	CLIP-seq
MIRT2052510	hsa-miR-4731-3p	CLIP-seq
MIRT2052511	hsa-miR-4801	CLIP-seq
MIRT1181538	hsa-miR-944	CLIP-seq
MIRT2052512	hsa-miR-1197	CLIP-seq
MIRT2052513	hsa-miR-1254	CLIP-seq
MIRT1181399	hsa-miR-1265	CLIP-seq
MIRT1181404	hsa-miR-129-5p	CLIP-seq
MIRT1181498	hsa-miR-135a	CLIP-seq
MIRT1181499	hsa-miR-135b	CLIP-seq
MIRT1181406	hsa-miR-140-3p	CLIP-seq
MIRT2052514	hsa-miR-141	CLIP-seq
MIRT2052515	hsa-miR-153	CLIP-seq
MIRT1181500	hsa-miR-193b	CLIP-seq
MIRT1181501	hsa-miR-199a-3p	CLIP-seq
MIRT1181502	hsa-miR-199b-3p	CLIP-seq
MIRT1181503	hsa-miR-19a	CLIP-seq
MIRT1181504	hsa-miR-19b	CLIP-seq
MIRT2052516	hsa-miR-200a	CLIP-seq
MIRT2052517	hsa-miR-200b	CLIP-seq
MIRT2052518	hsa-miR-200c	CLIP-seq
MIRT1181412	hsa-miR-2392	CLIP-seq
MIRT2052519	hsa-miR-3116	CLIP-seq
MIRT2052520	hsa-miR-3117-5p	CLIP-seq
MIRT1181507	hsa-miR-3119	CLIP-seq
MIRT2052521	hsa-miR-3120-5p	CLIP-seq
MIRT1181508	hsa-miR-3129-5p	CLIP-seq
MIRT1181422	hsa-miR-3137	CLIP-seq
MIRT2052522	hsa-miR-3143	CLIP-seq
MIRT2052523	hsa-miR-3152-5p	CLIP-seq
MIRT1181425	hsa-miR-3154	CLIP-seq
MIRT2052524	hsa-miR-3168	CLIP-seq
MIRT1181509	hsa-miR-3183	CLIP-seq
MIRT1181427	hsa-miR-3185	CLIP-seq
MIRT2052525	hsa-miR-3192	CLIP-seq
MIRT2052526	hsa-miR-3617	CLIP-seq
MIRT1181431	hsa-miR-3664-5p	CLIP-seq
MIRT2052527	hsa-miR-3668	CLIP-seq
MIRT2052528	hsa-miR-3688-3p	CLIP-seq
MIRT1181434	hsa-miR-3714	CLIP-seq
MIRT2052529	hsa-miR-4271	CLIP-seq
MIRT1181516	hsa-miR-4272	CLIP-seq
MIRT1181517	hsa-miR-4274	CLIP-seq
MIRT2052530	hsa-miR-429	CLIP-seq
MIRT1181520	hsa-miR-4435	CLIP-seq
MIRT2052531	hsa-miR-448	CLIP-seq
MIRT1181523	hsa-miR-4519	CLIP-seq
MIRT1181458	hsa-miR-452	CLIP-seq
MIRT2052532	hsa-miR-4528	CLIP-seq
MIRT2052533	hsa-miR-4533	CLIP-seq
MIRT2052534	hsa-miR-4633-5p	CLIP-seq
MIRT1181465	hsa-miR-4668-5p	CLIP-seq
MIRT1181466	hsa-miR-4676-3p	CLIP-seq
MIRT1181470	hsa-miR-4714-5p	CLIP-seq
MIRT2052509	hsa-miR-4716-5p	CLIP-seq
MIRT1181527	hsa-miR-4723-3p	CLIP-seq
MIRT2052535	hsa-miR-4725-3p	CLIP-seq
MIRT2052536	hsa-miR-4747-5p	CLIP-seq
MIRT1181476	hsa-miR-4760-3p	CLIP-seq
MIRT2052537	hsa-miR-4774-3p	CLIP-seq
MIRT2052538	hsa-miR-4785	CLIP-seq
MIRT1181528	hsa-miR-4793-5p	CLIP-seq
MIRT2052539	hsa-miR-532-5p	CLIP-seq
MIRT2052540	hsa-miR-542-5p	CLIP-seq
MIRT2052541	hsa-miR-543	CLIP-seq
MIRT1181485	hsa-miR-548aa	CLIP-seq
MIRT2052542	hsa-miR-584	CLIP-seq
MIRT1181536	hsa-miR-600	CLIP-seq
MIRT2052543	hsa-miR-605	CLIP-seq
MIRT2052544	hsa-miR-641	CLIP-seq
MIRT2052545	hsa-miR-651	CLIP-seq
MIRT2052546	hsa-miR-661	CLIP-seq
MIRT2052547	hsa-miR-943	CLIP-seq
MIRT1181393	hsa-miR-101	CLIP-seq
MIRT2281873	hsa-miR-103a	CLIP-seq
MIRT2281874	hsa-miR-10a	CLIP-seq
MIRT2281875	hsa-miR-10b	CLIP-seq
MIRT1181397	hsa-miR-1258	CLIP-seq
MIRT1181399	hsa-miR-1265	CLIP-seq
MIRT1181497	hsa-miR-128	CLIP-seq
MIRT1181404	hsa-miR-129-5p	CLIP-seq
MIRT2281876	hsa-miR-1305	CLIP-seq
MIRT2281877	hsa-miR-1343	CLIP-seq
MIRT1181498	hsa-miR-135a	CLIP-seq
MIRT1181499	hsa-miR-135b	CLIP-seq
MIRT1181406	hsa-miR-140-3p	CLIP-seq
MIRT2281878	hsa-miR-140-5p	CLIP-seq
MIRT2052514	hsa-miR-141	CLIP-seq
MIRT1181407	hsa-miR-144	CLIP-seq
MIRT2281879	hsa-miR-147	CLIP-seq
MIRT2052515	hsa-miR-153	CLIP-seq
MIRT1181408	hsa-miR-15a	CLIP-seq
MIRT1181409	hsa-miR-15b	CLIP-seq
MIRT1181410	hsa-miR-16	CLIP-seq
MIRT1181500	hsa-miR-193b	CLIP-seq
MIRT1181411	hsa-miR-195	CLIP-seq
MIRT1181501	hsa-miR-199a-3p	CLIP-seq
MIRT1181502	hsa-miR-199b-3p	CLIP-seq
MIRT1181503	hsa-miR-19a	CLIP-seq
MIRT1181504	hsa-miR-19b	CLIP-seq
MIRT2052516	hsa-miR-200a	CLIP-seq
MIRT2052517	hsa-miR-200b	CLIP-seq
MIRT2052518	hsa-miR-200c	CLIP-seq
MIRT1181412	hsa-miR-2392	CLIP-seq
MIRT1181505	hsa-miR-27a	CLIP-seq
MIRT1181506	hsa-miR-27b	CLIP-seq
MIRT2281880	hsa-miR-3074-3p	CLIP-seq
MIRT1181415	hsa-miR-3074-5p	CLIP-seq
MIRT1181416	hsa-miR-30a	CLIP-seq
MIRT1181417	hsa-miR-30b	CLIP-seq
MIRT1181418	hsa-miR-30c	CLIP-seq
MIRT1181419	hsa-miR-30d	CLIP-seq
MIRT1181420	hsa-miR-30e	CLIP-seq
MIRT2281881	hsa-miR-3117-3p	CLIP-seq
MIRT2052520	hsa-miR-3117-5p	CLIP-seq
MIRT1181507	hsa-miR-3119	CLIP-seq
MIRT2281882	hsa-miR-3121-3p	CLIP-seq
MIRT1181508	hsa-miR-3129-5p	CLIP-seq
MIRT1181422	hsa-miR-3137	CLIP-seq
MIRT2052522	hsa-miR-3143	CLIP-seq
MIRT2052523	hsa-miR-3152-5p	CLIP-seq
MIRT2281883	hsa-miR-3153	CLIP-seq
MIRT2281884	hsa-miR-3163	CLIP-seq
MIRT2052524	hsa-miR-3168	CLIP-seq
MIRT1181426	hsa-miR-3169	CLIP-seq
MIRT2281885	hsa-miR-3170	CLIP-seq
MIRT2281886	hsa-miR-3171	CLIP-seq
MIRT2281887	hsa-miR-3173-3p	CLIP-seq
MIRT2281888	hsa-miR-3179	CLIP-seq
MIRT1181427	hsa-miR-3185	CLIP-seq
MIRT2281889	hsa-miR-3202	CLIP-seq
MIRT1181428	hsa-miR-330-3p	CLIP-seq
MIRT1181429	hsa-miR-338-5p	CLIP-seq
MIRT1181510	hsa-miR-33a	CLIP-seq
MIRT1181511	hsa-miR-33b	CLIP-seq
MIRT2281890	hsa-miR-3545-5p	CLIP-seq
MIRT2281891	hsa-miR-3606	CLIP-seq
MIRT2052526	hsa-miR-3617	CLIP-seq
MIRT1181512	hsa-miR-3647-3p	CLIP-seq
MIRT1181431	hsa-miR-3664-5p	CLIP-seq
MIRT1181432	hsa-miR-3679-3p	CLIP-seq
MIRT2052528	hsa-miR-3688-3p	CLIP-seq
MIRT2281892	hsa-miR-369-3p	CLIP-seq
MIRT1181433	hsa-miR-370	CLIP-seq
MIRT1181434	hsa-miR-3714	CLIP-seq
MIRT2281893	hsa-miR-374a	CLIP-seq
MIRT2281894	hsa-miR-374b	CLIP-seq
MIRT2281895	hsa-miR-375	CLIP-seq
MIRT2281896	hsa-miR-3911	CLIP-seq
MIRT2281897	hsa-miR-3912	CLIP-seq
MIRT1181437	hsa-miR-3920	CLIP-seq
MIRT1181514	hsa-miR-3929	CLIP-seq
MIRT2281898	hsa-miR-3936	CLIP-seq
MIRT2281899	hsa-miR-3941	CLIP-seq
MIRT1181515	hsa-miR-3943	CLIP-seq
MIRT2281900	hsa-miR-3944-5p	CLIP-seq
MIRT1181440	hsa-miR-410	CLIP-seq
MIRT2281901	hsa-miR-421	CLIP-seq
MIRT1181441	hsa-miR-424	CLIP-seq
MIRT2281902	hsa-miR-4263	CLIP-seq
MIRT2052529	hsa-miR-4271	CLIP-seq
MIRT2281903	hsa-miR-4273	CLIP-seq
MIRT1181517	hsa-miR-4274	CLIP-seq
MIRT2281904	hsa-miR-4275	CLIP-seq
MIRT2281905	hsa-miR-4277	CLIP-seq
MIRT2052530	hsa-miR-429	CLIP-seq
MIRT2281906	hsa-miR-4301	CLIP-seq
MIRT1181445	hsa-miR-4307	CLIP-seq
MIRT2281907	hsa-miR-4310	CLIP-seq
MIRT1181518	hsa-miR-4418	CLIP-seq
MIRT1181519	hsa-miR-4419b	CLIP-seq
MIRT2281908	hsa-miR-4420	CLIP-seq
MIRT1181520	hsa-miR-4435	CLIP-seq
MIRT1181451	hsa-miR-4446-5p	CLIP-seq
MIRT2281909	hsa-miR-4457	CLIP-seq
MIRT2281910	hsa-miR-4460	CLIP-seq
MIRT1181452	hsa-miR-4464	CLIP-seq
MIRT2281911	hsa-miR-4475	CLIP-seq
MIRT1181522	hsa-miR-4478	CLIP-seq
MIRT2052531	hsa-miR-448	CLIP-seq
MIRT2281912	hsa-miR-4484	CLIP-seq
MIRT1181454	hsa-miR-4496	CLIP-seq
MIRT1181523	hsa-miR-4519	CLIP-seq
MIRT1181458	hsa-miR-452	CLIP-seq
MIRT1181459	hsa-miR-4524	CLIP-seq
MIRT2052532	hsa-miR-4528	CLIP-seq
MIRT2281913	hsa-miR-4539	CLIP-seq
MIRT2281914	hsa-miR-4633-3p	CLIP-seq
MIRT2281915	hsa-miR-4641	CLIP-seq
MIRT1181524	hsa-miR-4659a-5p	CLIP-seq
MIRT1181525	hsa-miR-4659b-5p	CLIP-seq
MIRT2281916	hsa-miR-466	CLIP-seq
MIRT1181464	hsa-miR-4666-5p	CLIP-seq
MIRT2281917	hsa-miR-4668-3p	CLIP-seq
MIRT1181465	hsa-miR-4668-5p	CLIP-seq
MIRT2281918	hsa-miR-4672	CLIP-seq
MIRT1181466	hsa-miR-4676-3p	CLIP-seq
MIRT2281919	hsa-miR-4677-5p	CLIP-seq
MIRT2281920	hsa-miR-4680-3p	CLIP-seq
MIRT1181469	hsa-miR-4699-3p	CLIP-seq
MIRT2281921	hsa-miR-4700-3p	CLIP-seq
MIRT2281922	hsa-miR-4709-3p	CLIP-seq
MIRT2281923	hsa-miR-4710	CLIP-seq
MIRT1181470	hsa-miR-4714-5p	CLIP-seq
MIRT2052509	hsa-miR-4716-5p	CLIP-seq
MIRT2281924	hsa-miR-4720-5p	CLIP-seq
MIRT2052535	hsa-miR-4725-3p	CLIP-seq
MIRT2052510	hsa-miR-4731-3p	CLIP-seq
MIRT2052536	hsa-miR-4747-5p	CLIP-seq
MIRT1181475	hsa-miR-4748	CLIP-seq
MIRT2281925	hsa-miR-4759	CLIP-seq
MIRT1181476	hsa-miR-4760-3p	CLIP-seq
MIRT2052537	hsa-miR-4774-3p	CLIP-seq
MIRT2281926	hsa-miR-4789-3p	CLIP-seq
MIRT2281927	hsa-miR-4792	CLIP-seq
MIRT2281928	hsa-miR-4799-3p	CLIP-seq
MIRT2281929	hsa-miR-4799-5p	CLIP-seq
MIRT2052511	hsa-miR-4801	CLIP-seq
MIRT2281930	hsa-miR-4802-5p	CLIP-seq
MIRT2281931	hsa-miR-4803	CLIP-seq
MIRT1181480	hsa-miR-487a	CLIP-seq
MIRT1181481	hsa-miR-494	CLIP-seq
MIRT1181483	hsa-miR-497	CLIP-seq
MIRT2281932	hsa-miR-501-3p	CLIP-seq
MIRT2281933	hsa-miR-502-3p	CLIP-seq
MIRT1181484	hsa-miR-503	CLIP-seq
MIRT1181529	hsa-miR-509-3-5p	CLIP-seq
MIRT1181530	hsa-miR-509-5p	CLIP-seq
MIRT1181531	hsa-miR-5096	CLIP-seq
MIRT1181532	hsa-miR-513a-5p	CLIP-seq
MIRT1181533	hsa-miR-513c	CLIP-seq
MIRT1181534	hsa-miR-514b-5p	CLIP-seq
MIRT2281934	hsa-miR-519a	CLIP-seq
MIRT2281935	hsa-miR-519b-3p	CLIP-seq
MIRT2281936	hsa-miR-519c-3p	CLIP-seq
MIRT2052541	hsa-miR-543	CLIP-seq
MIRT2281937	hsa-miR-552	CLIP-seq
MIRT2281938	hsa-miR-576-5p	CLIP-seq
MIRT1181489	hsa-miR-582-5p	CLIP-seq
MIRT1181491	hsa-miR-590-3p	CLIP-seq
MIRT2052543	hsa-miR-605	CLIP-seq
MIRT2281939	hsa-miR-607	CLIP-seq
MIRT2281940	hsa-miR-610	CLIP-seq
MIRT2281941	hsa-miR-625	CLIP-seq
MIRT2052544	hsa-miR-641	CLIP-seq
MIRT2281942	hsa-miR-642b	CLIP-seq
MIRT2281943	hsa-miR-643	CLIP-seq
MIRT2281944	hsa-miR-644	CLIP-seq
MIRT1181494	hsa-miR-646	CLIP-seq
MIRT2281945	hsa-miR-767-3p	CLIP-seq
MIRT2281946	hsa-miR-767-5p	CLIP-seq
MIRT1181404	hsa-miR-129-5p	CLIP-seq
MIRT2052515	hsa-miR-153	CLIP-seq
MIRT2052522	hsa-miR-3143	CLIP-seq
MIRT2052523	hsa-miR-3152-5p	CLIP-seq
MIRT2052525	hsa-miR-3192	CLIP-seq
MIRT2052526	hsa-miR-3617	CLIP-seq
MIRT2052531	hsa-miR-448	CLIP-seq
MIRT2052532	hsa-miR-4528	CLIP-seq
MIRT2052536	hsa-miR-4747-5p	CLIP-seq
MIRT2052537	hsa-miR-4774-3p	CLIP-seq
MIRT2052541	hsa-miR-543	CLIP-seq
MIRT2052543	hsa-miR-605	CLIP-seq
MIRT2052544	hsa-miR-641	CLIP-seq
MIRT2281873	hsa-miR-103a	CLIP-seq
MIRT2281900	hsa-miR-3944-5p	CLIP-seq
MIRT2281907	hsa-miR-4310	CLIP-seq
MIRT2281934	hsa-miR-519a	CLIP-seq
MIRT2281935	hsa-miR-519b-3p	CLIP-seq
MIRT2281936	hsa-miR-519c-3p	CLIP-seq
MIRT2281873	hsa-miR-103a	CLIP-seq
MIRT2052513	hsa-miR-1254	CLIP-seq
MIRT1181399	hsa-miR-1265	CLIP-seq
MIRT1181497	hsa-miR-128	CLIP-seq
MIRT1181404	hsa-miR-129-5p	CLIP-seq
MIRT2052514	hsa-miR-141	CLIP-seq
MIRT2052515	hsa-miR-153	CLIP-seq
MIRT2052516	hsa-miR-200a	CLIP-seq
MIRT1181505	hsa-miR-27a	CLIP-seq
MIRT1181506	hsa-miR-27b	CLIP-seq
MIRT2052519	hsa-miR-3116	CLIP-seq
MIRT2052520	hsa-miR-3117-5p	CLIP-seq
MIRT2052522	hsa-miR-3143	CLIP-seq
MIRT2052523	hsa-miR-3152-5p	CLIP-seq
MIRT2052525	hsa-miR-3192	CLIP-seq
MIRT1181429	hsa-miR-338-5p	CLIP-seq
MIRT2579947	hsa-miR-3613-3p	CLIP-seq
MIRT2052526	hsa-miR-3617	CLIP-seq
MIRT2052527	hsa-miR-3668	CLIP-seq
MIRT2281892	hsa-miR-369-3p	CLIP-seq
MIRT2579948	hsa-miR-374c	CLIP-seq
MIRT1181436	hsa-miR-3918	CLIP-seq
MIRT1181514	hsa-miR-3929	CLIP-seq
MIRT2281900	hsa-miR-3944-5p	CLIP-seq
MIRT1181440	hsa-miR-410	CLIP-seq
MIRT2052529	hsa-miR-4271	CLIP-seq
MIRT1181445	hsa-miR-4307	CLIP-seq
MIRT1181519	hsa-miR-4419b	CLIP-seq
MIRT1181522	hsa-miR-4478	CLIP-seq
MIRT2052531	hsa-miR-448	CLIP-seq
MIRT1181455	hsa-miR-4512	CLIP-seq
MIRT2052532	hsa-miR-4528	CLIP-seq
MIRT2052533	hsa-miR-4533	CLIP-seq
MIRT2052534	hsa-miR-4633-5p	CLIP-seq
MIRT2579949	hsa-miR-4637	CLIP-seq
MIRT1181463	hsa-miR-4666-3p	CLIP-seq
MIRT1181464	hsa-miR-4666-5p	CLIP-seq
MIRT1181468	hsa-miR-4685-5p	CLIP-seq
MIRT2052509	hsa-miR-4716-5p	CLIP-seq
MIRT2052535	hsa-miR-4725-3p	CLIP-seq
MIRT1181474	hsa-miR-4738-3p	CLIP-seq
MIRT2052536	hsa-miR-4747-5p	CLIP-seq
MIRT2579950	hsa-miR-4763-5p	CLIP-seq
MIRT2052537	hsa-miR-4774-3p	CLIP-seq
MIRT2052538	hsa-miR-4785	CLIP-seq
MIRT1181531	hsa-miR-5096	CLIP-seq
MIRT1181532	hsa-miR-513a-5p	CLIP-seq
MIRT2579951	hsa-miR-520d-5p	CLIP-seq
MIRT2579952	hsa-miR-524-5p	CLIP-seq
MIRT2052539	hsa-miR-532-5p	CLIP-seq
MIRT2052540	hsa-miR-542-5p	CLIP-seq
MIRT2052541	hsa-miR-543	CLIP-seq
MIRT1181486	hsa-miR-548g	CLIP-seq
MIRT2579953	hsa-miR-548p	CLIP-seq
MIRT2052543	hsa-miR-605	CLIP-seq
MIRT2052544	hsa-miR-641	CLIP-seq
MIRT2579954	hsa-miR-655	CLIP-seq
MIRT2052546	hsa-miR-661	CLIP-seq
MIRT2281873	hsa-miR-103a	CLIP-seq
MIRT2052513	hsa-miR-1254	CLIP-seq
MIRT1181399	hsa-miR-1265	CLIP-seq
MIRT1181404	hsa-miR-129-5p	CLIP-seq
MIRT2052514	hsa-miR-141	CLIP-seq
MIRT2052515	hsa-miR-153	CLIP-seq
MIRT2052516	hsa-miR-200a	CLIP-seq
MIRT2281880	hsa-miR-3074-3p	CLIP-seq
MIRT2052519	hsa-miR-3116	CLIP-seq
MIRT2052520	hsa-miR-3117-5p	CLIP-seq
MIRT2052522	hsa-miR-3143	CLIP-seq
MIRT2052523	hsa-miR-3152-5p	CLIP-seq
MIRT2052525	hsa-miR-3192	CLIP-seq
MIRT1181429	hsa-miR-338-5p	CLIP-seq
MIRT2579947	hsa-miR-3613-3p	CLIP-seq
MIRT2052526	hsa-miR-3617	CLIP-seq
MIRT2052527	hsa-miR-3668	CLIP-seq
MIRT2281892	hsa-miR-369-3p	CLIP-seq
MIRT2579948	hsa-miR-374c	CLIP-seq
MIRT1181436	hsa-miR-3918	CLIP-seq
MIRT2281900	hsa-miR-3944-5p	CLIP-seq
MIRT1181440	hsa-miR-410	CLIP-seq
MIRT2052529	hsa-miR-4271	CLIP-seq
MIRT1181445	hsa-miR-4307	CLIP-seq
MIRT2052531	hsa-miR-448	CLIP-seq
MIRT1181455	hsa-miR-4512	CLIP-seq
MIRT2052532	hsa-miR-4528	CLIP-seq
MIRT2052533	hsa-miR-4533	CLIP-seq
MIRT2052534	hsa-miR-4633-5p	CLIP-seq
MIRT2579949	hsa-miR-4637	CLIP-seq
MIRT1181463	hsa-miR-4666-3p	CLIP-seq
MIRT1181464	hsa-miR-4666-5p	CLIP-seq
MIRT1181468	hsa-miR-4685-5p	CLIP-seq
MIRT2052509	hsa-miR-4716-5p	CLIP-seq
MIRT2052535	hsa-miR-4725-3p	CLIP-seq
MIRT1181474	hsa-miR-4738-3p	CLIP-seq
MIRT2052536	hsa-miR-4747-5p	CLIP-seq
MIRT2579950	hsa-miR-4763-5p	CLIP-seq
MIRT2052537	hsa-miR-4774-3p	CLIP-seq
MIRT2052538	hsa-miR-4785	CLIP-seq
MIRT2579951	hsa-miR-520d-5p	CLIP-seq
MIRT2579952	hsa-miR-524-5p	CLIP-seq
MIRT2052539	hsa-miR-532-5p	CLIP-seq
MIRT2052540	hsa-miR-542-5p	CLIP-seq
MIRT2052541	hsa-miR-543	CLIP-seq
MIRT1181486	hsa-miR-548g	CLIP-seq
MIRT2579953	hsa-miR-548p	CLIP-seq
MIRT2052543	hsa-miR-605	CLIP-seq
MIRT2052544	hsa-miR-641	CLIP-seq
MIRT2579954	hsa-miR-655	CLIP-seq
MIRT2052546	hsa-miR-661	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CREB1	Unknown	10435592
CTCF	Unknown	21111075
FOXA1	Activation	8495744
GFI1	Unknown	14504408
IRF8	Activation	15371411
RUNX1	Repression	15988004
SP1	Unknown	10435592;14647436
TBP	Repression	15767669
TBPL1	Activation	15767669
TWIST1	Repression	19051271
TWIST2	Repression	19051271
YY1	Activation	15763658

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	IEA
GO:0000165	Process	MAPK cascade	ISS
GO:0001525	Process	Angiogenesis	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	ISS
GO:0001656	Process	Metanephros development	IEA
GO:0001656	Process	Metanephros development	ISS
GO:0001666	Process	Response to hypoxia	IEA
GO:0001666	Process	Response to hypoxia	ISS
GO:0001889	Process	Liver development	IEA
GO:0001889	Process	Liver development	ISS
GO:0001935	Process	Endothelial cell proliferation	IEA
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IEA
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IMP	16648142
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IMP	17404841
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IEA
GO:0001952	Process	Regulation of cell-matrix adhesion	IEA
GO:0001952	Process	Regulation of cell-matrix adhesion	ISS
GO:0001953	Process	Negative regulation of cell-matrix adhesion	IEA
GO:0002686	Process	Negative regulation of leukocyte migration	IEA
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IDA	1568247, 1570015, 2121371
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	11356864, 16374483, 23027611, 26635368, 30194290, 34626534
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS	1550670
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS	1550670
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007154	Process	Cell communication	IEA
GO:0007154	Process	Cell communication	ISS
GO:0007265	Process	Ras protein signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	ISS
GO:0007269	Process	Neurotransmitter secretion	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007406	Process	Negative regulation of neuroblast proliferation	IEA
GO:0007406	Process	Negative regulation of neuroblast proliferation	ISS
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	ISS
GO:0007422	Process	Peripheral nervous system development	IEA
GO:0007422	Process	Peripheral nervous system development	ISS
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0008429	Function	Phosphatidylethanolamine binding	IDA	17187824
GO:0008542	Process	Visual learning	IEA
GO:0008542	Process	Visual learning	ISS
GO:0008625	Process	Extrinsic apoptotic signaling pathway via death domain receptors	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010626	Process	Negative regulation of Schwann cell proliferation	IEA
GO:0014009	Process	Glial cell proliferation	IEA
GO:0014010	Process	Schwann cell proliferation	IEA
GO:0014044	Process	Schwann cell development	IEA
GO:0014044	Process	Schwann cell development	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0016601	Process	Rac protein signal transduction	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0021510	Process	Spinal cord development	ISS
GO:0021764	Process	Amygdala development	IEA
GO:0021897	Process	Forebrain astrocyte development	IEA
GO:0021897	Process	Forebrain astrocyte development	ISS
GO:0021915	Process	Neural tube development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0021987	Process	Cerebral cortex development	ISS
GO:0022011	Process	Myelination in peripheral nervous system	IEA
GO:0022011	Process	Myelination in peripheral nervous system	ISS
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030198	Process	Extracellular matrix organization	ISS
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	ISS
GO:0030316	Process	Osteoclast differentiation	IEA
GO:0030325	Process	Adrenal gland development	IEA
GO:0030325	Process	Adrenal gland development	ISS
GO:0030336	Process	Negative regulation of cell migration	IMP	16648142
GO:0030424	Component	Axon	IDA	1550670
GO:0030425	Component	Dendrite	IDA	1550670
GO:0031210	Function	Phosphatidylcholine binding	IDA	17187824
GO:0032228	Process	Regulation of synaptic transmission, GABAergic	IEA
GO:0033024	Process	Mast cell apoptotic process	IEA
GO:0033027	Process	Positive regulation of mast cell apoptotic process	IEA
GO:0033028	Process	Myeloid cell apoptotic process	IEA
GO:0033034	Process	Positive regulation of myeloid cell apoptotic process	IEA
GO:0034605	Process	Cellular response to heat	IEA
GO:0035021	Process	Negative regulation of Rac protein signal transduction	IEA
GO:0036135	Process	Schwann cell migration	IEA
GO:0042060	Process	Wound healing	IEA
GO:0042060	Process	Wound healing	ISS
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042308	Process	Negative regulation of protein import into nucleus	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	ISS
GO:0043408	Process	Regulation of MAPK cascade	IEA
GO:0043409	Process	Negative regulation of MAPK cascade	IEA
GO:0043409	Process	Negative regulation of MAPK cascade	IMP	16648142
GO:0043409	Process	Negative regulation of MAPK cascade	ISS
GO:0043473	Process	Pigmentation	IEA
GO:0043473	Process	Pigmentation	ISS
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	ISS
GO:0043535	Process	Regulation of blood vessel endothelial cell migration	IMP	17404841
GO:0043547	Process	Positive regulation of GTPase activity	IDA	2121371
GO:0043547	Process	Positive regulation of GTPase activity	IMP	16648142
GO:0045124	Process	Regulation of bone resorption	IEA
GO:0045124	Process	Regulation of bone resorption	ISS
GO:0045671	Process	Negative regulation of osteoclast differentiation	IEA
GO:0045685	Process	Regulation of glial cell differentiation	IEA
GO:0045685	Process	Regulation of glial cell differentiation	ISS
GO:0045765	Process	Regulation of angiogenesis	IEA
GO:0045765	Process	Regulation of angiogenesis	IMP	17404841
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IEA
GO:0046929	Process	Negative regulation of neurotransmitter secretion	IEA
GO:0048144	Process	Fibroblast proliferation	IEA
GO:0048147	Process	Negative regulation of fibroblast proliferation	IEA
GO:0048147	Process	Negative regulation of fibroblast proliferation	ISS
GO:0048169	Process	Regulation of long-term neuronal synaptic plasticity	IEA
GO:0048485	Process	Sympathetic nervous system development	IEA
GO:0048485	Process	Sympathetic nervous system development	ISS
GO:0048593	Process	Camera-type eye morphogenesis	IEA
GO:0048593	Process	Camera-type eye morphogenesis	ISS
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048712	Process	Negative regulation of astrocyte differentiation	IEA
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	IEA
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	ISS
GO:0048745	Process	Smooth muscle tissue development	IEA
GO:0048745	Process	Smooth muscle tissue development	ISS
GO:0048820	Process	Hair follicle maturation	IEA
GO:0048844	Process	Artery morphogenesis	IEA
GO:0048844	Process	Artery morphogenesis	ISS
GO:0048853	Process	Forebrain morphogenesis	IEA
GO:0048853	Process	Forebrain morphogenesis	ISS
GO:0050793	Process	Regulation of developmental process	IEA
GO:0050890	Process	Cognition	IMP	17299016
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0060253	Process	Negative regulation of glial cell proliferation	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0061534	Process	Gamma-aminobutyric acid secretion, neurotransmission	IEA
GO:0061535	Process	Glutamate secretion, neurotransmission	IEA
GO:0070372	Process	Regulation of ERK1 and ERK2 cascade	IEA
GO:0070662	Process	Mast cell proliferation	IEA
GO:0070667	Process	Negative regulation of mast cell proliferation	IEA
GO:0071887	Process	Leukocyte apoptotic process	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	IEA
GO:0097529	Process	Myeloid leukocyte migration	IEA
GO:0098597	Process	Observational learning	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099175	Process	Regulation of postsynapse organization	IEA
GO:1900148	Process	Negative regulation of Schwann cell migration	IEA
GO:1900271	Process	Regulation of long-term synaptic potentiation	IEA
GO:1902531	Process	Regulation of intracellular signal transduction	IBA
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IEA
GO:1904738	Process	Vascular associated smooth muscle cell migration	IEA
GO:1904753	Process	Negative regulation of vascular associated smooth muscle cell migration	IEA
GO:1990874	Process	Vascular associated smooth muscle cell proliferation	IEA
GO:2000108	Process	Positive regulation of leukocyte apoptotic process	IEA
GO:2000647	Process	Negative regulation of stem cell proliferation	IEA
GO:2001241	Process	Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA

Other IDs

• MIM: 613113
• HGNC: 7765
• e!Ensembl: ENSG00000196712

Protein

• UniProt ID: P21359
• Protein name: Neurofibromin (Neurofibromatosis-related protein NF-1) [Cleaved into: Neurofibromin truncated]
• Protein function: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.
• PDB: 1NF1, 2D4Q, 2E2X, 3P7Z, 3PEG, 3PG7, 6OB2, 6OB3, 6V65, 6V6F, 7MOC, 7MP5, 7MP6, 7PGP, 7PGQ, 7PGR, 7PGS, 7PGT, 7PGU, 7R03, 7R04, 8E20, 8EDL, 8EDM, 8EDN, 8EDO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00616	RasGAP	1324 → 1451	GTPase-activator protein for Ras-like GTPase	Family
  PF13716	CRAL_TRIO_2	1602 → 1736	Divergent CRAL/TRIO domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in brain, peripheral nerve, lung, colon and muscle. {ECO:0000269|PubMed:8417346}.
• Sequence:

  MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTT
  ILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHF
  LHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELL
  QYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVENYPDEFTKLYQIPQT
  DMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLILCPEIIQDISKDVVDENNMNKKLFL
  DSLRKALAGHGGSRQLTESAAIACVKLCKASTYINWEDNSVIFLLVQSMVVDLKNLLFNP
  SKPFSRGSQPADVDLMIDCLVSCFRISPHNNQHFKICLAQNSPSTFHYVLVNSLHRIITN
  SALDWWPKIDAVYCHSVELRNMFGETLHKAVQGCGAHPAIRMAPSLTFKEKVTSLKFKEK
  PTDLETRSYKYLLLSMVKLIHADPKLLLCNPRKQGPETQGSTAELITGLVQLVPQSHMPE
  IAQEAMEALLVLHQLDSIDLWNPDAPVETFWEISSQMLFYICKKLTSHQMLSSTEILKWL
  REILICRNKFLLKNKQADRSSCHFLLFYGVGCDIPSSGNTSQMSMDHEELLRTPGASLRK
  GKGNSSMDSAAGCSGTPPICRQAQTKLEVALYMFLWNPDTEAVLVAMSCFRHLCEEADIR
  CGVDEVSVHNLLPNYNTFMEFASVSNMMSTGRAALQKRVMALLRRIEHPTAGNTEAWEDT
  HAKWEQATKLILNYPKAKMEDGQAAESLHKTIVKRRMSHVSGGGSIDLSDTDSLQEWINM
  TGFLCALGGVCLQQRSNSGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLS
  LMVCNHEKVGLQIRTNVKDLVGLELSPALYPMLFNKLKNTISKFFDSQGQVLLTDTNTQF
  VEQTIAIMKNLLDNHTEGSSEHLGQASIETMMLNLVRYVRVLGNMVHAIQIKTKLCQLVE
  VMMARRDDLSFCQEMKFRNKMVEYLTDWVMGTSNQAADDDVKCLTRDLDQASMEAVVSLL
  AGLPLQPEEGDGVELMEAKSQLFLKYFTLFMNLLNDCSEVEDESAQTGGRKRGMSRRLAS
  LRHCTVLAMSNLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQGTEFDTLAETV
  LADRFERLVELVTMMGDQGELPIAMALANVVPCSQWDELARVLVTLFDSRHLLYQLLWNM
  FSKEVELADSMQTLFRGNSLASKIMTFCFKVYGATYLQKLLDPLLRIVITSSDWQHVSFE
  VDPTRLEPSESLEENQRNLLQMTEKFFHAIISSSSEFPPQLRSVCHCLYQATCHSLLNKA
  TVKEKKENKKSVVSQRFPQNSIGAVGSAMFLRFINPAIVSPYEAGILDKKPPPRIERGLK
  LMSKILQSIANHVLFTKEEHMRPFNDFVKSNFDAARRFFLDIASDCPTSDAVNHSLSFIS
  DGNVLALHRLLWNNQEKIGQYLSSNRDHKAVGRRPFDKMATLLAYLGPPEHKPVADTHWS
  SLNLTSSKFEEFMTRHQVHEKEEFKALKTLSIFYQAGTSKAGNPIFYYVARRFKTGQING
  DLLIYHVLLTLKPYYAKPYEIVVDLTHTGPSNRFKTDFLSKWFVVFPGFAYDNVSAVYIY
  NCNSWVREYTKYHERLLTGLKGSKRLVFIDCPGKLAEHIEHEQQKLPAATLALEEDLKVF
  HNALKLAHKDTKVSIKVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFT
  LTIANQGTPLTFMHQECEAIVQSIIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALL
  NLGSSDPSLRSAAYNLLCALTCTFNLKIEGQLLETSGLCIPANNTLFIVSISKTLAANEP
  HLTLEFLEECISGFSKSSIELKHLCLEYMTPWLSNLVRFCKHNDDAKRQRVTAILDKLIT
  MTINEKQMYPSIQAKIWGSLGQITDLLDVVLDSFIKTSATGGLGSIKAEVMADTAVALAS
  GNVKLVSSKVIGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNSLDVAAHL
  PYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQLHFSEETKQVLRLSLTEFSLPK
  FYLLFGISKVKSAAVIAFRSSYRDRSFSPGSYERETFALTSLETVTEALLEIMEACMRDI
  PTCKWLDQWTELAQRFAFQYNPSLQPRALVVFGCISKRVSHGQIKQIIRILSKALESCLK
  GPDTYNSQVLIEATVIALTKLQPLLNKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQ
  NLHTLDSLRIFNDKSPEEVFMAIRNPLEWHCKQMDHFVGLNFNSNFNFALVGHLLKGYRH
  PSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAALLTVSEEVRSRCSLKHRKS
  LLLTDISMENVPMDTYPIHHGDPSYRTLKETQPWSSPKGSEGYLAATYPTVGQTSPRARK
  SMSLDMGQPSQANTKKLLGTRKSFDHLISDTKAPKRQEMESGITTPPKMRRVAETDYEME
  TQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILY
  EYLAEASVVFPKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQT
  SYLQSFGFNGLWRFAGPFSKQTQIPDYAELIVKFLDALIDTYLPGIDEETSEESLLTPTS
  PYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVELSPTTGHCNSGRTRHGSASQ
  VQKQRSAGSFKRNSIKKIV

• Sequence length: 2839

Pathways

KEGG:

EGFR tyrosine kinase inhibitor resistance
MAPK signaling pathway
Ras signaling pathway

Reactome:

Regulation of RAS by GAPs
RAS signaling downstream of NF1 loss-of-function variants

<

Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Cafe-au-lait spot	cafe au lait spots, multiple	rs1555613206, rs1555608663, rs1057518792	N/A
Myelomonocytic Leukemia	juvenile myelomonocytic leukemia	rs1057518807, rs1555614453, rs1060500387, rs1597858594, rs1555614354, rs1567817974, rs1555613543, rs771115661, rs2066874267, rs786203950, rs1060500245, rs1057518904, rs1567845945, rs1555618572, rs1597866846, rs137854553, rs267606607, rs1060500376, rs1064794278, rs1057521098, rs878853865, rs376576925, rs1057521848, rs137854555, rs786202457, rs753245823, rs2066874810, rs587781807, rs786202782, rs1597831990, rs199474747, rs1135402894, rs1131691105, rs267606604, rs2069793099, rs786204157, rs267606599, rs1555535032, rs267606602, rs1567818033, rs1060500356, rs864622161, rs1085307819, rs1555610905, rs771820789, rs786202177, rs2066138676, rs1597713360, rs1597681200, rs753529924, rs397514641, rs1555610893, rs199474737, rs137854562, rs1597710409, rs199474781, rs1555534893, rs1321848637, rs199474742, rs863224445, rs1057518974, rs1555610881, rs1597858459, rs1555614462, rs2069448326, rs876657932, rs199474728, rs1555534697, rs1060500355, rs2066507116, rs1060500363, rs1060500273	N/A
neoplasm	Neoplasm	rs137854565, rs863224491, rs1060500345, rs587781807, rs1555610903, rs1598173737, rs1057518134, rs797044942, rs1555615472, rs137854562, rs1131691082, rs1064794276, rs1060500352	N/A
Neurofibroma	neurofibroma	rs1597715477, rs863224491, rs1555614011, rs1597859854, rs786202782, rs1597851255, rs1597862012	N/A
Neurofibromatosis	Neurofibromatosis, type 1, neurofibromatosis, familial spinal	rs1555615549, rs2069448374, rs1135402901, rs1597710497, rs1131691100, rs267606600, rs1567847571, rs1135402876, rs1597832498, rs1135402856, rs1597719490, rs2069691007, rs786202112, rs1555535403, rs1597851210, rs1555618996, rs199474790, rs1555613543, rs199474749, rs2067189266, rs1555536687, rs1597617010, rs1060500368, rs1282299543, rs1344104003, rs876660931, rs1597843836, rs1135402819, rs1567612647, rs1060500255, rs1555534677, rs538708444, rs1555536773, rs1430634618, rs1555604939, rs137854565, rs2067038509, rs771115661, rs2069743612, rs1060500349, rs1555535053, rs2070108811, rs863224491, rs1187097568, rs1555605393, rs1131691129, rs1567612483, rs1202226733, rs764079291, rs775670722, rs772757623, rs1555613896, rs1555617328, rs2066507556, rs1135402793, rs1567786905, rs1060500284, rs1555533359, rs1131691080, rs137854558, rs1567834983, rs2066874267, rs1555534966, rs1597844547, rs1135402867, rs2069745140, rs786204154, rs1555611110, rs1597712392, rs1555613558, rs1567862991, rs886041347, rs1555614319, rs199474734, rs2067621208, rs1597629813, rs1567861977, rs2070172428, rs876658235, rs1555614963, rs1135402830, rs1057518792, rs1555614211, rs778325867, rs1555618634, rs1597745728, rs878853909, rs1555610896, rs199474774, rs1135402842, rs1567615852, rs786203950, rs1555614653, rs1597748607, rs1555612866, rs1131691123, rs878853877, rs1555612273, rs199474729, rs2067123964, rs1555534673, rs1597832021, rs1060500245, rs1567816131, rs1597747184, rs786203570, rs1555615071, rs1597832482, rs1135402806, rs1567848213, rs1060500308, rs1555533887, rs1555619051, rs1555614529, rs2067091515, rs1131691092, rs1555534770, rs2066990036, rs1418965797, rs1567848100, rs1135402880, rs1555534919, rs2069868519, rs771529172, rs587778548, rs1597720036, rs1131691125, rs199474739, rs1057518904, rs1555614867, rs587781807, rs2069331850, rs1135402891, rs1597680909, rs1064794756, rs2147483647, rs1555618533, rs1597868171, rs1057521097, rs1555617364, rs2069448879, rs1135402902, rs1597710793, rs771764281, rs137854553, rs1567847905, rs1555614229, rs1597834988, rs137854550, rs1420779915, rs2069691055, rs786203896, rs1597858261, rs878853893, rs199474780, rs2067189853, rs1555533368, rs371544233, rs1567845906, rs2070372934, rs876660782, rs1597843853, rs1135402820, rs1567613682, rs1555533366, rs1193716348, rs758206740, rs1597719643, rs1555605362, rs2067065846, rs1597715286, rs1060500300, rs1555535163, rs1555536338, rs147955381, rs1430988476, rs1131691994, rs1567613604, rs199474760, rs2067083695, rs1555614914, rs1597712758, rs1060500331, rs1567847972, rs2070327979, rs1555614169, rs1555535455, rs2066508538, rs1135402795, rs1567814632, rs1060500358, rs1555533363, rs1555614833, rs1597715179, rs1131691132, rs267606603, rs1555614858, rs1597626161, rs1135402869, rs2069745354, rs786204211, rs1555612274, rs1597832043, rs555635097, rs1567864972, rs886041346, rs1555614338, rs199474743, rs2067621912, rs746824139, rs1064794273, rs1567862283, rs757074803, rs876660206, rs754639587, rs1597859558, rs1135402831, rs1567626919, rs1555618572, rs1597713670, rs1555533555, rs1597746982, rs878853922, rs1555610898, rs1597868244, rs1135402844, rs1567627268, rs1555533549, rs1597748617, rs1555613786, rs1597829749, rs878853880, rs1555612286, rs199474785, rs2067124493, rs1555535177, rs1597840055, rs1567817841, rs864622509, rs1252674239, rs1597834703, rs1135402808, rs533210843, rs1555614845, rs1555534595, rs1597842843, rs752039618, rs1597716924, rs1131691075, rs1555534950, rs267606607, rs2066990429, rs1555618821, rs1597716778, rs1135402881, rs2069869918, rs863224488, rs1555604935, rs1597832002, rs1131691091, rs777872719, rs876659289, rs2069336015, rs1135402892, rs1597680938, rs1064794278, rs267606595, rs1567838311, rs1057518360, rs1567615872, rs1057521098, rs1555618494, rs1567613595, rs1135402903, rs1597712398, rs1131691119, rs137854554, rs1567848178, rs1555614310, rs1597858338, rs1135402857, rs2069704625, rs772295894, rs1597858284, rs1555533354, rs878853896, rs1555613773, rs199474741, rs2067193558, rs1555619413, rs1060500346, rs2065902916, rs876660099, rs1597844556, rs1135402822, rs1567615941, rs1060500353, rs1555536380, rs1597688656, rs1555605398, rs1597719704, rs137854566, rs2067069052, rs1555607107, rs1555614226, rs1060500296, rs1555535171, rs1555536359, rs1555614342, rs2065792758, rs1131691610, rs1555610903, rs199474738, rs753082620, rs1597719504, rs1060500364, rs1348129244, rs2070327932, rs1555614386, rs1555618846, rs2066519656, rs1135402796, rs1567826819, rs1555611584, rs1555533416, rs1555614972, rs1597715284, rs1131691099, rs137854559, rs1567851532, rs2066874419, rs1555614866, rs1597713259, rs876660141, rs2069790028, rs786204253, rs1597843186, rs1555614438, rs1567846634, rs886041348, rs1555614354, rs199474752, rs2067623178, rs1060500360, rs1064796700, rs1567863614, rs2066961306, rs876658492, rs1555614180, rs1597859566, rs1135402832, rs786203038, rs1597715031, rs1597747012, rs878853865, rs1555610900, rs1597868832, rs1135402846, rs1567814497, rs786202782, rs1555619041, rs1597748656, rs1555614418, rs140994965, rs878853881, rs2067134394, rs1555536352, rs1060500338, rs1567817865, rs2069386858, rs864622639, rs1555618492, rs774893767, rs1135402810, rs1567848731, rs376576925, rs863224660, rs1131691077, rs1555535023, rs2066990975, rs1555536923, rs1597851489, rs2069870374, rs863224655, rs1555605406, rs1597834842, rs1131691084, rs767805288, rs1057518842, rs1555614918, rs2069376426, rs1135402893, rs1466912192, rs1567843930, rs763983337, rs1567617129, rs876660428, rs2069449497, rs1135402904, rs1597712535, rs1131691094, rs267606601, rs1567848739, rs1555614343, rs1597867039, rs1135402858, rs1555614011, rs1353492847, rs786202457, rs747382969, rs1555533543, rs878853899, rs1555613821, rs199474732, rs2067193761, rs1555608928, rs1597845155, rs1060500242, rs1567845945, rs2067039276, rs778405030, rs1597845013, rs753245823, rs1567617849, rs786203824, rs1555604897, rs1597688663, rs1555608763, rs1597719982, rs1555607126, rs1555619056, rs2067071059, rs1555611089, rs1060500268, rs1555535448, rs2070169785, rs863224835, rs1555618528, rs2065792921, rs2067091045, rs1555613975, rs758915600, rs1060500357, rs1135402836, rs2070375859, rs1555534307, rs1555536882, rs2066520848, rs1135402797, rs1567835847, rs1060500307, rs1555533548, rs1597843096, rs1555534596, rs1131691095, rs267606604, rs1567843934, rs2066874810, rs1555615004, rs1597715880, rs1135402872, rs2069790543, rs786204207, rs1555614423, rs1597660090, rs1555614549, rs1567611351, rs1057516197, rs1555614358, rs199474753, rs2067623782, rs1135402883, rs1597629882, rs1064794274, rs1567611375, rs2069724056, rs1555533323, rs1597859719, rs1135402833, rs766585105, rs948982039, rs773710071, rs1555605409, rs1597748682, rs199474754, rs1597870141, rs867391752, rs1567849891, rs1555619033, rs1597839926, rs1428885377, rs1597831854, rs878853883, rs1316926587, rs199474747, rs2067135666, rs1060500345, rs1567820771, rs2070079311, rs1555618658, rs1597834820, rs1135402811, rs1567848976, rs1597866846, rs1279529138, rs1597717610, rs1131691072, rs1555533382, rs2066992658, rs1555619052, rs1597830046, rs1555534928, rs2070074350, rs863224489, rs1555606053, rs1597843782, rs1131691079, rs1567627138, rs1555614934, rs2069382585, rs1135402894, rs1597681864, rs1085307728, rs267606596, rs1567845116, rs2065794400, rs1135402787, rs1567617727, rs773151680, rs2069454068, rs1135402905, rs1597712619, rs1131691118, rs1567814432, rs1555614458, rs1555594500, rs1135402859, rs2069704915, rs1555534929, rs1597866743, rs1555534751, rs878853903, rs1131691105, rs2067194538, rs1555613743, rs1598173737, rs1060500292, rs1567847538, rs876660135, rs1597845926, rs1567626945, rs1555533871, rs1555605404, rs1597688674, rs1555612815, rs1597722429, rs1555608734, rs1282493551, rs1555613427, rs1597716817, rs1060500355, rs1555536685, rs2070170042, rs1555535032, rs1131691089, rs1597748742, rs199474761, rs2067091646, rs1555618489, rs1597745583, rs1060500271, rs1567611231, rs2066618684, rs864622107, rs2066527734, rs1135402798, rs1241533665, rs1060500278, rs1555533569, rs876659768, rs1555536868, rs1597715646, rs1567845069, rs1555535042, rs1597716274, rs1135402873, rs1555534621, rs2069793099, rs786204157, rs1555614464, rs1597682030, rs1555614634, rs1567611380, rs1057518134, rs199474791, rs2067635955, rs1135402884, rs1597635740, rs1064796843, rs876660212, rs1555614455, rs1597859768, rs1135402834, rs1555533552, rs1597715061, rs1555606137, rs267606597, rs915463951, rs1555536683, rs1597629679, rs1135402848, rs1567865089, rs1555533853, rs1411146465, rs1555614635, rs878853884, rs1555612859, rs2067137517, rs1555536689, rs1060500342, rs1567826110, rs2070102904, rs1057519369, rs1555618693, rs1198491194, rs1135402813, rs1567849864, rs1060500370, rs1597629649, rs1597717672, rs754023358, rs1438566555, rs267606609, rs2067016480, rs1057518326, rs1060500252, rs1555534952, rs2070074822, rs863224446, rs181397225, rs1597844653, rs1131691093, rs1567851029, rs1555615039, rs2069382639, rs1597681960, rs755501749, rs1555533644, rs2065795260, rs1135402788, rs1567618250, rs1057521848, rs1555619001, rs2069454362, rs1135402906, rs777759192, rs1131691066, rs137854555, rs1567818033, rs1555614462, rs1597643722, rs1135402860, rs1597851255, rs2069705203, rs786202180, rs1555614207, rs1597866792, rs1555536334, rs878853904, rs199474742, rs2067194816, rs1555613816, rs1060500378, rs1567847962, rs2066964219, rs876658946, rs1597848201, rs1135402823, rs1567627217, rs1060500356, rs753529924, rs1597706578, rs1555614022, rs1597722508, rs1555608740, rs199474789, rs199474786, rs894292181, rs1597680978, rs1060500286, rs567988442, rs2070171459, rs1555610848, rs1597748782, rs878853868, rs1555610955, rs199474762, rs2067091912, rs1555618542, rs1597745689, rs1060500319, rs753463683, rs1555614495, rs864622161, rs1555611590, rs1135402799, rs1567838293, rs1555614284, rs1555533636, rs1597862010, rs1555606061, rs1597715649, rs1131691069, rs2066876556, rs1555615027, rs1597717694, rs1135402875, rs1555534680, rs1555614966, rs1597682159, rs1567611604, rs1555614426, rs199474751, rs2067664784, rs1135402885, rs1597635825, rs1064796331, rs1567611457, rs1555533336, rs1597859871, rs1555534667, rs587782088, rs1555533561, rs1597716765, rs1085307819, rs137854551, rs1567845937, rs1131691096, rs1597682182, rs1135402849, rs876659070, rs786202954, rs1555536030, rs1597842697, rs1555615032, rs1597831990, rs878853885, rs199474764, rs1329683225, rs1060500376, rs745804540, rs2070296011, rs876657714, rs1555618806, rs1597834952, rs1567850984, rs1060500374, rs1243948503, rs1555533292, rs1597718735, rs1131691098, rs1555610905, rs1567852567, rs2067019858, rs1555533284, rs2067017409, rs1555535027, rs2070075481, rs1555536372, rs1597858445, rs1131691115, rs1567851054, rs771820789, rs1555615103, rs786202177, rs1135402895, rs1597682137, rs2066138676, rs1567619134, rs1555619029, rs2069602711, rs1135402907, rs1597713360, rs1131691106, rs2066619128, rs1555534379, rs1597681200, rs1135402861, rs758917402, rs786201367, rs1555615109, rs1597635745, rs1555536724, rs1567852753, rs878853913, rs1270674587, rs137854556, rs2067449346, rs1555618999, rs1060500324, rs1060500312, rs1567848755, rs2067187668, rs876658853, rs1555604899, rs1597851351, rs1135402825, rs1567627751, rs1597706592, rs1555614437, rs1597735166, rs876658854, rs1060500274, rs397514641, rs2067073056, rs1060500335, rs1555537029, rs2070171679, rs1555610893, rs1597753176, rs199474737, rs1555610971, rs199474745, rs2067091885, rs1555618656, rs1597746891, rs1555618552, rs1567612488, rs864622551, rs1555613567, rs1135402800, rs1131691131, rs1060500254, rs1555533641, rs1597865858, rs1555607102, rs1597715673, rs1131691122, rs137854562, rs2066877516, rs1555535192, rs1135402874, rs1555534712, rs2069795265, rs797044942, rs1555617354, rs1597698330, rs1567612415, rs1555614429, rs199474735, rs2067689582, rs1597635936, rs1064794275, rs1567616894, rs1555533889, rs1597862293, rs1135402837, rs1567862095, rs587782819, rs1555534378, rs1597717471, rs267606598, rs1555533290, rs1597698310, rs1135402850, rs1567862071, rs786202023, rs374014162, rs1555615472, rs1597832223, rs1555612867, rs199474748, rs1555533875, rs1060500347, rs1567826188, rs1555611043, rs1555619402, rs1597840273, rs1135402814, rs1060500276, rs1597643692, rs1555533566, rs1597719471, rs137854563, rs2067030828, rs1555533297, rs2067066952, rs1555535041, rs2070076040, rs863224490, rs1555536947, rs1597689068, rs1131691073, rs1567851445, rs1555615114, rs1135402897, rs1597688896, rs2070172706, rs863224492, rs1555534661, rs1135402789, rs1567623480, rs1060500321, rs1555619395, rs2069670563, rs1135402908, rs1131691067, rs267606602, rs1567825858, rs2066785949, rs1555534611, rs1135402862, rs1597862012, rs2069707755, rs786204255, rs1555618803, rs778963145, rs1555608924, rs1567852849, rs878853917, rs1555613926, rs199474781, rs2067449536, rs1555534393, rs1597626094, rs1060500266, rs2067092561, rs876660826, rs1555614825, rs1597851420, rs1135402826, rs1567848761, rs1060500354, rs1597708558, rs1555614652, rs1597735186, rs876660696, rs1555608972, rs2067074098, rs1555613932, rs1597635722, rs1060500333, rs1555537032, rs773097190, rs1597753263, rs1555610972, rs199474746, rs2067122084, rs1555614296, rs1597746962, rs1064792912, rs1567613569, rs864622142, rs1555613784, rs1135402802, rs1567843917, rs1060500367, rs1555533856, rs1597866921, rs1597716432, rs1131691112, rs761199437, rs775181940, rs1597844692, rs1555534893, rs2069867490, rs1555607093, rs1567612435, rs267604791, rs2069325928, rs1135402887, rs1597658676, rs1064794277, rs1567617158, rs1555614977, rs1597866350, rs1135402838, rs1567627709, rs786203307, rs1555535434, rs1597708728, rs1085307459, rs137854552, rs1567847384, rs1555613831, rs1597706620, rs1135402851, rs1060500352, rs1321848637, rs1555614521, rs1597843640, rs1555613185, rs1597720167, rs1555611105, rs1060500344, rs1567826633, rs863224445, rs876657715, rs1555533883, rs1597843052, rs1135402815, rs1567858318, rs1597657969, rs1555535417, rs1597719535, rs1131691103, rs1555534955, rs2067031065, rs1555533393, rs2067137617, rs1057523533, rs2070076088, rs1555610854, rs1597748995, rs1131691114, rs1567862860, rs1057518974, rs1555615467, rs2069383586, rs1135402898, rs2070273520, rs863224493, rs1555534766, rs2066505751, rs1135402790, rs1567626632, rs1060500320, rs1555619404, rs1555607112, rs1131691085, rs1567825887, rs2066787009, rs1555614526, rs1597716256, rs1135402863, rs2069725866, rs786204059, rs1597706737, rs1555612289, rs1567858344, rs878853918, rs1555613999, rs2067450400, rs1597629724, rs1060500359, rs1567851416, rs1567858306, rs876660444, rs1555610881, rs1597858459, rs1135402827, rs1567847681, rs1555612266, rs1597708581, rs1555614947, rs1597735273, rs876658541, rs766011053, rs200962248, rs1567849184, rs1555607073, rs1597682729, rs1555536701, rs764783865, rs1555611039, rs1597753353, rs878853871, rs1555610984, rs199474763, rs2067122345, rs1555614940, rs1597829906, rs1060500339, rs1567615902, rs2066510244, rs864622431, rs1555613843, rs1135402803, rs1567845935, rs1555614313, rs1475358670, rs1567848711, rs1131691104, rs2066962518, rs1555615567, rs1597682922, rs1135402877, rs776506332, rs797045139, rs1555618994, rs1597710409, rs1567848704, rs1057517848, rs1555614611, rs267604793, rs2069326761, rs1135402888, rs1597659883, rs1064794276, rs1135402900, rs1555534917, rs1597866414, rs1135402839, rs587781747, rs786201874, rs1135402899, rs1597708762, rs1085307885, rs137854560, rs1567847398, rs587781577, rs876657932, rs1135402852, rs1567623508, rs2069682584, rs863224447, rs1597844950, rs1555615497, rs1597832235, rs953440640, rs199474728, rs2067186801, rs1555617368, rs753054046, rs1060500327, rs1567835161, rs876658658, rs1555534697, rs1597843675, rs1135402817, rs1567864983, rs1555618862, rs1462287670, rs1597658505, rs1555536035, rs1131691121, rs267606605, rs1555613421, rs267606610, rs2067031123, rs1555535050, rs2067142728, rs1060500373, rs2070076529, rs1555614535, rs1597868312, rs1567863580, rs1555615469, rs2069448326, rs1060500301, rs1567820688, rs2070275502, rs863224837, rs1555615431, rs2066507116, rs1135402791, rs1567627210, rs1057519370, rs1555619416, rs1555610910, rs1597713777, rs137854557, rs201047812, rs2066787606, rs1555534775, rs1597722374, rs1135402864, rs2069727641, rs768638173, rs1555607110, rs1597635615, rs886039548, rs1555614260, rs199474750, rs2067450430, rs1597629765, rs772348111, rs878853892, rs878853897, rs1135402828, rs1567848878, rs1555612270, rs770211384, rs1555615111, rs866445127, rs199474773, rs2067074457, rs375188075, rs1597710342, rs786203448, rs1555536928, rs1597734976, rs1555611610, rs1597829519, rs199474778, rs1555611098, rs199474730, rs2067122982, rs1555533621, rs1597829913, rs1060500363, rs1567617877, rs760703505, rs1555614293, rs1135402804, rs1060500273, rs1555533882, rs1597832056, rs1555613795, rs1131691127, rs2066962730, rs1555618511, rs1060500253, rs1135402878, rs1555534913, rs2069867622, rs1555533326, rs1597710675, rs1567617045, rs1057517967, rs1555614624, rs587781517, rs2069329312, rs1135402889, rs1597659893, rs1567623439, rs1555534964, rs1597866897, rs1135402840, rs1567849237, rs1597710358, rs1131691101, rs267606599, rs1567786829, rs1555533648, rs1135402855, rs1597712251, rs2069687965, rs786203614, rs1555536358, rs1597845886, rs1555617383, rs1597832360, rs878853890, rs1555613430, rs2067188114, rs1555619391, rs1597832304, rs1060500295, rs1567835183, rs2067138719, rs876658570, rs1555534859, rs1135402818, rs1567612531, rs1555619397, rs1555534433, rs1597659694, rs1555536340, rs1597719619, rs1131691117, rs1555613933, rs137854564, rs2067031470, rs1555536765, rs2069329829, rs1060500385, rs1555536135, rs786203390, rs1555614848, rs1597866554, rs1131691090, rs1567863648, rs1057518807, rs1555615495, rs1597710658, rs1060500281, rs1567845818, rs2070298589, rs1555610774, rs1555615458, rs1135402792, rs1567627755, rs1060500323, rs1555613206, rs1131691130, rs1567851231, rs1952238027, rs1597831805, rs1135402865, rs2069743252, rs1555608647, rs1597682751, rs1567862956, rs886041630, rs1555614261, rs199474733, rs1597735272, rs1597629809, rs1060500387, rs760949880, rs2069717916, rs876658997, rs1555611004, rs1597858594, rs1135402829, rs1567849199, rs1597713206, rs1555615445, rs1597745663, rs878853891, rs1555610884, rs199474758, rs1555614642, rs1567615766, rs769048538, rs1555614460, rs1597746884, rs1555612294, rs1597829557, rs878853875, rs2067123493, rs1597829969, rs1567627286, rs1555614514, rs1135402805, rs1567848129, rs2230852, rs1555613983, rs1597716910, rs267606606, rs2066989409, rs1555618515, rs1597706610, rs1135402879, rs1555534918, rs2069867738, rs1555534600, rs1597710690, rs1057518884, rs1555614862, rs2069330560, rs1135402890, rs1555608970, rs1555533628, rs1567817974, rs1597866998, rs1135402841	N/A
Neurofibromatosis-Noonan Syndrome	neurofibromatosis-noonan syndrome	rs1597713777, rs267606607, rs1555618996, rs1060500376, rs1555610903, rs267606608, rs199474732, rs199474789, rs1131691122, rs1555535032, rs753529924, rs1060500331, rs1597832235, rs1060500276, rs766011053, rs267606606	N/A
Bardet-Biedl Syndrome	bardet-biedl syndrome 9	rs1555534964	N/A
gastric cancer	Gastric cancer	rs1597747184, rs587781807, rs1555605362, rs199474738, rs878853865, rs199474747, rs1135402788, rs876660444, rs1597713777	N/A
Multiple myeloma	multiple myeloma	rs1135402871	N/A
Optic Nerve Glioma	optic nerve glioma	rs1567848147, rs1279529138	N/A
Rhabdomyosarcoma	rhabdomyosarcoma	rs864622639, rs1567611375, rs876657714, rs199474742, rs137854557, rs768638173	N/A
Spinal neurofibromas	Spinal neurofibroma	rs1555604877	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Acute Myeloid Leukemia	Acute myeloid leukemia	Reduced expression levels of LZTR1, NF1, TSC1, and TSC2 correlate with reduced sensitivity to sorafenib in samples from patients with acute myeloid leukemia and deficiency results in hyperactivation of MAPK or MTOR pathways in acute myeloid leukemia cells	33375770	CBGDA
autism spectrum disorder	Autism spectrum disorder	N/A	N/A	ClinVar
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
hereditary cancer	Hereditary cancer	N/A	N/A	ClinVar
Hereditary Pheochromocytoma-Paraganglioma	hereditary pheochromocytoma-paraganglioma	N/A	N/A	GenCC
Insomnia	Insomnia	N/A	N/A	GWAS
Keratoconus	keratoconus	N/A	N/A	ClinVar
Liver Cancer	Liver cancer	Using a CRISPR-based strategy, we identified Nf1, Plxnb1, Flrt2, and B9d1 as suppressors of liver tumor formation.	27956228	CBGDA
Lung adenocarcinoma	Familial squamous cell lung carcinoma	N/A	N/A	GWAS
Microcephaly	microcephaly	N/A	N/A	ClinVar
Myeloproliferative Neoplasm	myeloproliferative neoplasm, unclassifiable	N/A	N/A	ClinVar
Myopathy	myopathy, centronuclear, 5	N/A	N/A	ClinVar
ovarian cancer	Ovarian cancer	N/A	N/A	ClinVar
Ovarian cancer	familial ovarian cancer	N/A	N/A	GenCC
Retinoblastoma	retinoblastoma	N/A	N/A	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Abdominal Pain	Associate	38469797
Achalasia Addisonianism Alacrimia syndrome	Stimulate	31301733
Acromegaly	Associate	34334593
Adenocarcinoma	Associate	31208361, 31747302, 33500480, 38469797
Adenocarcinoma of Lung	Associate	18948947, 25079552, 27151654, 31199580, 32083571, 34887322, 35702826
Adenomatous Polyposis Coli	Associate	34986841
Adrenocortical Carcinoma	Associate	25078331, 27165744
Alagille Syndrome	Associate	33910856
Alopecia Neurologic Defects and Endocrinopathy Syndrome	Associate	34334593
Alternating hemiplegia of childhood	Associate	31462295
Androgen Insensitivity Syndrome	Associate	31747302, 35732329
Aneuploidy	Associate	26490262, 26690015
Angina Stable	Associate	37053535
Angiomyolipoma	Associate	36308711
Anxiety	Associate	35503937, 39234078
Anxiety	Stimulate	37996843
Aortic Coarctation	Associate	34476477
Aortic Stenosis Supravalvular	Associate	31703719
Arthropathy progressive pseudorheumatoid of childhood	Associate	31066482
Astrocytoma	Associate	14565158, 19603027, 21113787, 21228927, 23161775, 23222849, 23702730, 26992069, 29763623, 29973652, 30190611, 31970404, 32859279, 35945463, 36260562, 36840626, 38485198, 8702000
Astrocytoma	Inhibit	23222849
Ataxia	Associate	31703719
Atelosteogenesis type 2	Associate	17138179, 17914491
Atrophy	Associate	22096509
Attention Deficit and Disruptive Behavior Disorders	Associate	26051969
Attention Deficit Disorder with Hyperactivity	Associate	22845611, 23163236, 24088225, 24229851, 26051969, 36996759
Attention Deficit Disorder with Hyperactivity	Stimulate	26304096, 30710873
Auditory Perceptual Disorders	Associate	35869419
Autism Spectrum Disorder	Associate	23163236, 27760236, 29204259, 31558455, 33037790
Autism Spectrum Disorder	Stimulate	26304096, 30710873
Autistic Disorder	Associate	23163236, 23205844, 26051969, 27760236, 31558455, 34233200, 34983638, 35093157, 36316421
Bankart Lesions	Associate	38469797
Beta ketothiolase deficiency	Associate	17299016, 21853543
Biliary Tract Neoplasms	Associate	29360550, 37341068
Bipolar Disorder	Associate	35503937
Blindness	Associate	29670214
Blister	Associate	23193848
Blood Coagulation Disorders Inherited	Associate	35346302
Body Dysmorphic Disorders	Associate	10631140, 1359144
Bone Diseases	Associate	1719426, 17914491, 33402484, 33764694, 33910856, 35503937, 37446790, 40133996
Bone Diseases	Stimulate	25208116, 28398289
Bone Diseases Developmental	Associate	16773574, 18317233, 32697994, 33956037
Bone Diseases Metabolic	Associate	16571643, 18317233, 32638973
Bone Neoplasms	Associate	29941005
Bone Resorption	Associate	18317233
Brain Diseases	Associate	22965669, 23094098, 30710873
Brain Neoplasms	Associate	10593996, 23222849, 29566708, 35093157, 37140883, 39285664, 9458162
Brain Neoplasms	Stimulate	22829012
Breast Neoplasms	Associate	17708679, 20002172, 25885768, 25927147, 27931045, 28891274, 30104415, 30423024, 31206626, 31495828, 31704974, 32125938, 32868316, 32934021, 33560870, 33734413, 33782032, 34105210, 34487234, 34793666, 34977446, 35396981, 36011273, 36332363, 37470892, 37501682, 39264897, 40523834, 40691558
Breast Neoplasms	Stimulate	23165953
Breast Neoplasms Male	Associate	38369186
Cafe au Lait Spots	Stimulate	16138229, 17914491, 29382000, 32147744, 32384911, 33757576, 35503937, 37294265
Cafe au Lait Spots	Associate	16482197, 1719426, 17668375, 19366998, 22558206, 23583712, 24232412, 24473962, 25329635, 25370043, 26150484, 26178382, 27322474, 29618358, 31703719, 31717729, 34080803, 34164111, 34573290, 35801779, 38469797, 40617948, 7903272, 8825931, 9036924
Calcinosis Cutis	Associate	36308711, 37062455
Carcinogenesis	Associate	20550523, 34707296
Carcinoma	Associate	21113787, 28498454, 33734413
Carcinoma Ductal	Associate	34810298
Carcinoma Embryonal	Associate	8380093
Carcinoma Giant Cell	Associate	24232412
Carcinoma Hepatocellular	Associate	21067840, 8602361
Carcinoma Intraductal Noninfiltrating	Associate	26249178
Carcinoma Lobular	Associate	30423024
Carcinoma Merkel Cell	Associate	26981779, 36602798
Carcinoma Non Small Cell Lung	Associate	27418131, 29127119, 29343556, 30280776, 34860166
Carcinoma Ovarian Epithelial	Associate	23791828, 31043489
Carcinoma Pancreatic Ductal	Associate	36351408
Carcinoma Renal Cell	Associate	31208361
Carcinoma Squamous Cell	Associate	24294391, 26479420
Carcinoma Transitional Cell	Inhibit	10079253
Cardiovascular Abnormalities	Associate	31595648, 32694667, 35093157
Carotid Artery Diseases	Associate	32694667
Cell Transformation Viral	Associate	37399248
Central Nervous System Diseases	Associate	39279083
Central Nervous System Neoplasms	Associate	10204844, 38139220
Cerebral Arterial Diseases	Associate	31990487
Cerebral Infarction	Stimulate	39799317
Cerebral Small Vessel Diseases	Associate	24218100
Cerebrovascular Disorders	Associate	29386211, 31990487
Cherubism	Associate	33910856
Cholangiocarcinoma	Associate	24563076, 34810298, 37222808, 40422514
Choroid Diseases	Associate	33956037
Choroiditis	Associate	33757576
Chromosome Disorders	Associate	20513137
Chronic Kidney Disease Mineral and Bone Disorder	Associate	35288591
Chronic Pain	Associate	27021207
Chronic Pain	Stimulate	35840301
Cleft Palate	Associate	37399248
Cognition Disorders	Associate	11258348, 11337320, 17299016, 23881898, 24229851, 30190611, 31730495, 32015538, 32977190, 33963966, 33978520, 37608248, 38216958, 39609892
Cognition Disorders	Stimulate	22723888, 22965669, 35503937, 36215287
Cognitive Dysfunction	Stimulate	11550319
Colitis Ulcerative	Associate	28674264
Colonic Neoplasms	Associate	31805970
Colonic Polyps	Associate	24294391
Colorectal Neoplasms	Associate	15886296, 18592002, 26351322, 29599344, 29703253, 30018131, 31287991, 31611389, 31805970, 32098826, 32216031, 32814491, 33787608, 34728807, 34779495, 35544729, 36356413, 37355626, 7947085
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	36356413
Communication Disorders	Stimulate	24229851, 29204259
Composite Lymphoma	Associate	36187102
Congenital Abnormalities	Associate	39690988
Constipation	Associate	33911094
Constriction Pathologic	Associate	24218100
Conversion Disorder	Associate	29204259, 39609892
Corneal Dystrophy Lisch Epithelial	Associate	16138229, 31703719, 34164111
Corneal Dystrophy Lisch Epithelial	Stimulate	29926437, 33956037, 35503937
Coronary Aneurysm	Associate	24473962
Cranial Nerve Diseases	Associate	33402484
Cumulative Trauma Disorders	Associate	28891274
Cytokine Release Syndrome	Associate	17200120
Death	Associate	21542925, 28267273, 31397088, 33734413
Depressive Disorder	Associate	35503937, 37996843, 39234078
Dermochondrocorneal dystrophy of François	Associate	35791167
	Associate	35791167
Developmental Disabilities	Associate	21068634, 24229851, 26178382, 31703719, 33037790, 34233200, 35093157, 35441233, 37088138, 39840811
Developmental Disabilities	Inhibit	22241097
Diabetes Mellitus Type 2	Associate	34233200, 34992063
Diabetic Angiopathies	Associate	32694667
Disease	Associate	31439678, 35801779
Drug Related Side Effects and Adverse Reactions	Associate	38531793
Dwarfism Pituitary	Associate	26758488, 34589056, 36714562
Dyslexia Acquired	Stimulate	25907848
Dysthymic Disorder	Associate	35503937
Ectropion	Associate	33956037
Edema	Associate	32990942
Encephalocraniocutaneous lipomatosis	Associate	7643367
Endocrine Gland Neoplasms	Associate	30205045
Endocrine System Diseases	Associate	34334593, 36332363
Endometrial Neoplasms	Associate	30093612, 36908940
Eosinophilia	Associate	34539959
Epidermolysis bullosa with pyloric atresia	Associate	14565158
Epilepsy	Associate	10204844, 23205844, 38471245
Erythema Nodosum	Associate	34992063
Esophageal Squamous Cell Carcinoma	Associate	26857264, 32375686
Esthesioneuroblastoma Olfactory	Associate	28495808
Exophthalmos	Associate	35801779
Eye Abnormalities	Associate	23701296
Eye Diseases	Associate	23701296, 35801779
Facial Dysmorphism with Multiple Malformations	Associate	20513137
Fibroma Ossifying	Associate	32393377
Fibrous Dysplasia of Bone	Associate	24232412, 32393377
Flatfoot	Associate	31703719
Fractures Bone	Associate	24932921, 26822862
Fragile X Syndrome	Associate	17138179
Funnel Chest	Associate	40225171
Ganglioglioma	Associate	36973520
Ganglioneuroma	Associate	38469797
Ganglioneuromatosis of the Alimentary Tract	Associate	23958108
Gardner Syndrome	Associate	33787608
Gastrointestinal Diseases	Associate	31397088
Gastrointestinal Hemorrhage	Associate	38469797
Gastrointestinal Stromal Tumors	Associate	21173220, 22675144, 22892600, 24294391, 25239601, 26555092, 27974047, 28270683, 28862263, 31301733, 31397088, 33854214, 35490251, 37789344, 38469797
Gastrointestinal Stromal Tumors	Stimulate	31805970
Genetic Diseases Inborn	Associate	1570015, 20186797, 25325900, 26478990, 30946477, 31717729, 33356508, 33602260, 34707296, 35628517, 37188759
Genetic Diseases Inborn	Stimulate	24473962
Genomic Instability	Associate	18723266
Glaucoma	Associate	33956037, 35791167
Glaucoma Neovascular	Associate	32345252
Glioblastoma	Associate	18772890, 19915670, 20129251, 23864165, 23907387, 25950952, 26190195, 26337765, 26490262, 26496030, 28166733, 30085274, 30289729, 31896544, 34060283, 34399888, 34605602, 34875133, 34952640, 34997451, 36031351, 37053535, 38079020, 39472976
Glioma	Associate	21694737, 23185366, 26190195, 27385209, 27852048, 28166733, 30531922, 31151904, 31462295, 32665022, 32748499, 33356508, 33734413, 33903738, 35210278, 35496054, 35584348, 35801779, 35945463, 36031351, 36840626, 37053535, 37252421, 37524847, 39472976, 40355925
Glioma	Inhibit	23476020, 25040262
Gliosarcoma	Associate	34504233, 34605602
Glomerulonephritis IGA	Associate	34678898
Glomus Tumor	Associate	19738042, 22250039, 23999936
Glucagonoma	Inhibit	8543966
Goiter	Associate	34334593
Granuloma Giant Cell	Stimulate	17138179
Granulomatosis with Polyangiitis	Associate	34539959
Gray Platelet Syndrome	Associate	22965669
Growth Disorders	Associate	16571643, 24218100, 26178382, 31088041, 31717729, 36803953, 37605180, 40505135
GSD IV Neuromuscular Form Fatal Perinatal	Associate	31250151
Hamartoma	Associate	22488919, 23399325
Hearing Loss	Associate	35093157
Heart Defects Congenital	Associate	24473962, 31487937
Heart Diseases	Associate	22845611, 32694667, 33037790
Heart Septal Defects Atrial	Associate	24473962
HEM dysplasia	Associate	10593996, 18317233
Hemangioma Cavernous Central Nervous System	Associate	28181149
Hemangiosarcoma	Associate	26440310
Hematuria	Associate	34678898
Hemothorax	Associate	29926437
Hemothorax	Stimulate	31162485
Hepatoblastoma	Associate	39862580
Heredodegenerative Disorders Nervous System	Associate	35188187, 37878632
Histiocytic Sarcoma	Associate	30626916, 31439678
Hydronephrosis	Associate	38216958
Hydrophthalmos	Associate	35791167
Hyperkinesis	Associate	31703719
Hyperlipidemias	Associate	37041514
Hyperparathyroidism Primary	Associate	34334593
Hyperpigmentation	Associate	26150484
Hyperplasia	Associate	28270683, 32702947
Hypersensitivity Delayed	Associate	21068634, 40617948
Hypertelorism	Associate	9783703
Hypertension	Associate	29382000, 31990487, 37252421, 37562365
Hypertension Pulmonary	Stimulate	17878687, 27927206
Hypertension Pulmonary	Associate	21512413, 28694401
Hypertension Renovascular	Associate	34476477
Hypertrophy	Associate	40505135
Hypopigmentation	Stimulate	37294265
Hypoxia	Associate	30705246
Hypoxia Ischemia Brain	Associate	29566708
Immunodeficiency due to Defect in MAPBP Interacting Protein	Stimulate	23881898
Immunologic Deficiency Syndromes	Associate	11704931
Infarction	Associate	37012328
Infarction Middle Cerebral Artery	Associate	36239750
Inflammatory Bowel Diseases	Associate	28674264
Infratentorial Neoplasms	Associate	38485198
Intellectual Disability	Associate	10631140, 11258348, 11468690, 1359144, 16138229, 24218100, 34233200
Interleukin 2 Receptor Alpha Deficiency of	Associate	19839503
Internal Hernia	Associate	26304096
Intestinal Atresia Multiple	Associate	40624119
Intestinal Diseases	Associate	38469797
Intestinal Neoplasms	Associate	31397088
Intracranial Arterial Diseases	Inhibit	34476477
Iris Diseases	Associate	1719426, 29618358, 34080803, 7903272
Iris Diseases	Stimulate	17914491, 33757576
Ischemia	Associate	32694667
Isolated Systolic Hypertension	Associate	32694667
Jaw Abnormalities	Associate	31703719
Kidney Diseases	Associate	16359595
Kidney Diseases Cystic	Associate	31533797
Kidney Neoplasms	Associate	24708790
Kyphoscoliosis 1	Associate	31703719
Language Development Disorders	Associate	11258348
Language Disorders	Stimulate	35503937
Learning Disabilities	Stimulate	10204844, 18632543, 26304096, 28398289, 29618358, 30710873, 35188187, 8320697
Learning Disabilities	Associate	10631140, 11258348, 16138229, 1719426, 19366998, 20513137, 23094098, 24088225, 24443315, 26178382, 30190611, 33037790, 33978520, 37252421
Legius syndrome	Associate	19366998, 26635368, 32107864, 32147744, 32575496, 32697994, 34012067, 35713653, 40225167
Legius syndrome	Stimulate	34325699
Leprosy Tuberculoid	Associate	31703719
Leukemia	Associate	16690971, 20015894, 23460398, 7609078, 8943868, 9180088, 9639526
Leukemia Hairy Cell	Associate	28801450
Leukemia Lymphocytic Chronic B Cell	Associate	38280423
Leukemia Monocytic Acute	Associate	19366998
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	12518368, 19091943, 40151938, 7609078
Leukemia Myeloid	Associate	7609078, 8943868, 9180088
Leukemia Myeloid Acute	Inhibit	12518368
Leukemia Myeloid Acute	Associate	19773259, 20505189, 23077663, 23460398, 29437595, 29872168, 33375770, 35390143, 37339484, 38429501, 40151938
Leukemia Myelomonocytic Chronic	Associate	7947106
Leukemia Myelomonocytic Juvenile	Associate	10979983, 14644997, 19571318, 19785027, 20008299, 20015894, 20408841, 22753870, 23696637, 26316488, 27345975, 27345978, 32933826, 34032360, 40151938, 8943868, 9639526
Leukemia Promyelocytic Acute	Associate	1972563, 2491776
Leukemia T Cell	Stimulate	7947106
Leukoencephalopathies	Associate	10766898, 22965669, 30710873
Leukoencephalopathy Progressive Multifocal	Associate	32087593
Leydig Cell Tumor	Associate	24294389
Liposarcoma	Associate	20601955, 33046013
Livedoid Vasculopathy	Associate	24218100, 29566708, 31990487, 37252421
Liver Diseases	Associate	39862580
Liver Failure	Associate	22824559
Lung Diseases	Associate	21512413, 23193848, 28694401, 29386211
Lung Diseases Interstitial	Stimulate	23193848
Lung Neoplasms	Associate	24296828, 25477232, 26861459, 29343556, 31182981, 31199580, 32578376, 35702826, 36211008
Lymphatic Metastasis	Associate	32083130
Lymphoma	Associate	8995642
Lymphoma B Cell	Associate	31439678
Lymphoma Non Hodgkin	Associate	23881924, 31346129, 33903738, 35363510, 38160304, 39548629, 7947106
Lymphoma T Cell	Associate	10979983
Malocclusion	Associate	31703719
Mastocytosis Systemic	Associate	34539959
Megalencephaly	Associate	11337320, 24218100
Melanoma	Associate	16961930, 23288408, 23444215, 24576830, 25980496, 26076063, 26082173, 26214590, 27671167, 27708104, 27728982, 27739435, 27890785, 28067894, 28143781, 28193624, 28267273, 28296713, 28380455, 29180761, 29191620, 29559732, 30657954, 30936219, 31419753, 31647501, 31811783, 31900433, 31980996, 32083130, 32406600, 33067454, 33230298, 33383577, 33419898, 33724703, 33734413, 34155350, 34681018, 34742158, 35385748, 35688970, 35941108, 35988589, 36409827, 36739402, 36901951, 36926987, 37053535, 37932252, 38615585, 39564955, 40023845, 8648172
Melanoma	Inhibit	8516298
Melanoma astrocytoma syndrome	Associate	37585199
Melanoma Cutaneous Malignant	Associate	24576830, 26744134, 32483240, 32581366, 40023845
Melanosis	Associate	10593996, 29618358, 34080803
Memory Disorders	Associate	28725547, 36316421
Memory Disorders	Stimulate	33963966
Meningioma	Associate	22083253
Meningioma	Inhibit	9310240
Mental Disorders	Associate	23163236, 35801779, 35869419
Mental Disorders	Stimulate	35503937
Mesothelioma	Associate	37556141
Metrorrhagia	Associate	33757576
Microphthalmos	Associate	23701296
Microsatellite Instability	Associate	15886296
Microvascular Angina	Associate	33757576
Mixed Tumor Malignant	Associate	16961930, 17138179, 26509978, 31301733, 35188187, 39862580
Mixed Tumor Malignant	Stimulate	25885768, 37188759
Mobility Limitation	Associate	29204259, 34627329
Motor Disorders	Stimulate	36996759
Motor Neuron Disease	Associate	34413392
Motor Skills Disorders	Associate	35869419
Mouth Abnormalities	Stimulate	25823487
Mouth Diseases	Associate	19269919, 37569527
Mouth Neoplasms	Associate	9326316
Moyamoya Disease	Associate	24952383, 30001348, 30463371, 31990487, 35093157
Moyamoya Disease	Stimulate	29364453
Moyamoya disease 1	Associate	37012328
Multi centric Castleman's Disease	Associate	34431136
Multiple Pterygium Syndrome Autosomal Dominant	Associate	28674264
Multiple Pterygium Syndrome Autosomal Dominant	Stimulate	31495828
Multiple Sclerosis	Associate	32664938, 7745407
Multiple Sclerosis Chronic Progressive	Associate	10766898
Muscle Hypotonia	Associate	31703719
Muscle Weakness	Associate	24229851
Muscular Atrophy	Associate	22096509
Musculoskeletal Abnormalities	Associate	29618358
Musculoskeletal Abnormalities	Stimulate	8320697
Musculoskeletal Diseases	Associate	29941005, 37252421
Myelodysplastic Myeloproliferative Diseases	Associate	40151938
Myelodysplastic Syndromes	Inhibit	12518368
Myelodysplastic Syndromes	Associate	40151938
Myeloproliferative Disorders	Associate	18723266, 8943868
Myopathies Structural Congenital	Associate	22965669, 23881898, 30181556
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	34080803
Myotonic Dystrophy	Associate	6787200
Nasopharyngeal Carcinoma	Associate	28581676
Neoplasm Invasiveness	Associate	40691558
Neoplasm Metastasis	Associate	25009010, 31685261, 33046013, 39285664
Neoplasms	Inhibit	10079253, 10469340, 10633134, 11404820, 11896214, 12368469, 13679444, 16169856, 16397625, 16961930, 18413802, 18948947, 19773259, 20601955, 20655465, 21512413, 22544022, 23288408, 23583712, 24282279, 24443315, 24668609, 25486365, 25946318, 25980496, 26478990, 26490262, 27739435, 27773919, 27852048, 28143781, 28556483, 28694401, 29459759, 29471550, 30045273, 30274822, 30657954, 31199580, 31551296, 31650799, 31730023, 31836666, 33114250, 33153459, 34539959, 34605602, 34707296, 34910921, 34967922, 35353986, 35394421, 35702826, 36011273, 37932252, 7609078, 7734302, 7947085, 8302341, 8516298, 8543966, 8648172, 8702000, 9180088, 9326316, 9783703
Neoplasms	Associate	10744064, 11438454, 11704931, 11727199, 14565158, 14627667, 1570015, 15840687, 16033085, 16690971, 17138179, 1715669, 17889038, 18927496, 19048115, 20015882, 20049721, 20049725, 20154675, 20844836, 21051559, 21281783, 21346257, 2142531, 22083253, 22108604, 22300766, 22558206, 22824559, 22829012, 23101500, 23222849, 23244685, 23423222, 23487764, 23522120, 23704090, 24218100, 24221193, 24294391, 24466223, 24618614, 24694336, 24708790, 24767714, 25009010, 25074460, 25079552, 25293717, 25329635, 25576899, 25593300, 25710373, 25884485, 26150484, 26214590, 26461061, 26558359, 26580448, 26690015, 26861459, 27057633, 27078035, 27078850, 27102345, 27103403, 27151654, 27161309, 27273132, 27426982, 27494896, 27626165, 27827403, 27862886, 27875628, 27930734, 28061772, 28067894, 28068329, 28166733, 28267273, 28398289, 28446466, 28776571, 28891274, 29084603, 29110923, 29117310, 29159601, 29320474, 29427150, 29463311, 29893754, 29973652, 29992434, 30018131, 30287926, 30381327, 30809793, 30824584, 30936219, 31127187, 31182981, 31250151, 31301733, 31341961, 31397088, 31419753, 31439678, 31462295, 31611389, 31645347, 31736278, 31886188, 31896544, 32014052, 32083130, 32193699, 32252413, 32345730, 32431053, 32533764, 32554297, 32561749, 32697994, 32859279, 32887687, 33356508, 33476564, 33507258, 33630851, 33734413, 33782032, 33854214, 34230207, 34308104, 34427956, 34461930, 34504233, 34659131, 34661724, 34728807, 34742158, 34864569, 34875133, 35393510, 35584348, 35655404, 35760350, 35871080, 35876628, 35945463, 35977347, 35988589, 36308711, 36351408, 36409827, 36760809, 36805510, 36840626, 36870308, 37053535, 37062455, 37140985, 37252421, 37339484, 37387515, 37460928, 37501682, 37717273, 38000020, 38093606, 38369186, 38469797, 39208653, 39216515, 39264897, 39336731, 39368853, 39840811, 40023845, 40107157, 40151938, 40420762, 8264648, 8602361, 9012403
Neoplasms	Stimulate	31805970, 35001007, 8320697
Neoplasms Bone Tissue	Associate	35093157
Neoplasms Cystic Mucinous and Serous	Associate	26043110
Neoplasms Neuroepithelial	Associate	27322474, 32859279
Neoplasms Radiation Induced	Associate	36788076
Neoplastic Syndromes Hereditary	Associate	16961930, 23222849, 9132486
Nerve Degeneration	Associate	34233200
Nerve Sheath Neoplasms	Associate	11727199, 13679444, 16033085, 20002172, 22558206, 23848554, 24294391, 25946318, 31913576, 32561749, 33436083, 39321200
Nervous System Diseases	Associate	15520408
Nervous System Neoplasms	Associate	24443315, 29618358, 32664938, 33476564, 34530870
Nervous System Neoplasms	Stimulate	32990942
Netherton Syndrome	Associate	32357851
Neural crest tumor	Associate	26150484, 8516298
Neuralgia	Associate	15520408
Neurilemmoma	Associate	13679444, 8516298
Neurilemmoma	Inhibit	8543966
Neurobehavioral Manifestations	Associate	36996759
Neuroblastoma	Associate	20655465, 26925841, 35689207
Neuroblastoma	Inhibit	8516298
Neurocognitive Disorders	Associate	39609892
Neurocutaneous Syndromes	Associate	19516012, 19935827, 32575496, 37294265, 39862580
Neurocutaneous Syndromes	Stimulate	34539959
Neurodegenerative Diseases	Associate	32664938
Neuroectodermal Tumors Primitive	Associate	22824559, 36440216
Neuroendocrine Tumors	Associate	22824559
Neurofibroma	Associate	10204844, 10595918, 11406645, 11468690, 12660952, 15255999, 1570015, 15703081, 16169856, 16571643, 1715669, 17160901, 1719426, 17668375, 20002172, 20049725, 20844836, 21031597, 21281783, 21752287, 22108604, 22241097, 22558206, 23101500, 23417386, 23432799, 24140765, 24294391, 24346909, 2500456, 25293717, 28099461, 28398289, 28548933, 28813519, 29185159, 29262839, 29618358, 30190611, 30381327, 31595648, 32345730, 32814709, 33476564, 33734413, 33757576, 33951044, 34164111, 34573290, 34992063, 35093157, 36332985, 37140985, 37294265, 37949359, 38175707, 38216958, 38279591, 39690988, 7903272, 9326316
Neurofibroma	Stimulate	25208116, 25305755, 25885768, 29415745, 33956037, 8320697
Neurofibroma Plexiform	Associate	10633134, 11438454, 12408239, 16033085, 16138229, 18800150, 20002172, 20680410, 20739432, 23101500, 23848554, 25293717, 25823487, 26840085, 26871793, 29893754, 31533651, 31913576, 32076030, 32193699, 32345730, 33436083, 33910856, 33951044, 34164111, 35093157, 35244537, 36332985, 36868501, 37569527, 37996843, 38216958, 40691558, 40691787, 9012403
Neurofibroma Plexiform	Stimulate	16571643, 32384911, 33903738, 35791167, 38366576
Neurofibroma Plexiform	Inhibit	28068329
Neurofibromatoses	Associate	10595918, 16961930, 1905930, 20008299, 21542925, 24676443, 26083891, 28891274, 29262839, 31175295, 34230207, 34707296, 35628517, 39373898, 39690988, 39840811, 8264648, 8516298
Neurofibromatoses	Stimulate	30908877, 32990942
Neurofibromatosis 1	Inhibit	10469340, 26304096, 27773919, 28694401, 32608378, 37145209, 37238595, 8302341, 9180088
Neurofibromatosis 1	Associate	10775528, 11068991, 11406645, 11896214, 14565158, 1570015, 16397625, 16482197, 16690971, 16793550, 1715669, 17160901, 17295913, 1770531, 1783401, 17889038, 1971145, 1972563, 19738042, 2112607, 2121371, 21482379, 22207399, 22241097, 22869071, 23047742, 23082153, 23423222, 23460398, 24218100, 24232412, 24676424, 2491776, 2491777, 2491778, 2491779, 24932921, 25049390, 25074460, 2511318, 25166435, 25370043, 27345975, 27345978, 27739187, 28862263, 28961165, 2896629, 2896631, 30190611, 30274822, 31066482, 31466283, 31533651, 31533797, 31650799, 31730495, 31836666, 31886188, 33091851, 33476564, 33757576, 33764694, 34080803, 34427956, 34530870, 34573290, 34948100, 34992063, 35353986, 35723633, 35879407, 36803953, 37186028, 37717273, 37751797, 39279083, 39332134, 39373898, 39521772, 40617948, 7570581, 7903272, 7903661, 8317503, 8417346, 8516298, 9687500, 9783703
Neurofibromatosis 1	Stimulate	22250039, 25907848, 32990942, 7604643
Neurofibromatosis 2	Associate	21347399, 30104415
Neurofibromatosis Familial Spinal	Associate	11704931, 23417386, 23812910, 37217626, 38018226, 9529361
Neurofibromatosis Noonan syndrome	Associate	16380919, 16542390, 23047742, 26758488, 31088041, 32107864, 32357851, 36803953
Neurofibromatosis type 5	Associate	16117786
Neurofibrosarcoma	Associate	10362810, 10595918, 11406645, 11438454, 12660952, 15255999, 15446585, 1570015, 16033085, 16406348, 17649804, 18413802, 18927496, 19182148, 19246520, 19414372, 20550523, 20680410, 20844836, 21694737, 23244685, 23370767, 23423222, 23434321, 23437333, 23530091, 23848554, 24668609, 24824755, 25038505, 25240281, 25293717, 25305755, 25833823, 25884485, 25946318, 26191206, 26645727, 26840085, 27494873, 27655679, 27875628, 28502478, 28556483, 28752843, 28762137, 28813519, 29020982, 29482987, 30381327, 31053152, 31127187, 31462295, 32076030, 32193699, 32252413, 32590748, 32606289, 33452215, 33707600, 33831431, 34461930, 34530870, 35093157, 35244537, 35746841, 36244030, 36598417, 37246765, 38000020, 38178234, 39321200
Neurofibrosarcoma	Inhibit	25189642, 34948100, 8543966
Neurologic Manifestations	Associate	16033085, 2491778, 29364453, 32561749, 9529361
Neurologic Manifestations	Stimulate	35869419
Neurothekeoma	Associate	39578817
Nevus Epithelioid and Spindle Cell	Associate	32431053
Nevus Pigmented	Associate	29191620
Nocardia Infections	Associate	19839503
Nonsyndromic Holoprosencephaly	Associate	36840626
Noonan like syndrome	Associate	31595648
Noonan Syndrome	Associate	1348094, 16380919, 16542390, 23047742, 25049390, 25370043, 26178382, 31487937, 32107864, 34032360, 36803953, 8317503
Obesity	Associate	36908940
Oligodendroglioma	Associate	27862886
Optic Nerve Diseases	Associate	26992069
Optic Nerve Glioma	Associate	10204844, 10593996, 22829012, 22845611, 22892521, 25293717, 26992069, 31595648, 32533764, 32814709, 33356508, 33757576, 33956037, 34080803, 35093157, 35210278, 35503937, 36840626, 8702000
Optic Nerve Glioma	Stimulate	22083253
Optic Nerve Neoplasms	Associate	21542925, 31462295, 32814709
Oral Submucous Fibrosis	Associate	38050610
Orofaciodigital syndrome 4	Associate	28433079
Osteitis Deformans	Associate	16571643, 16773574, 17914491
Osteogenesis imperfecta type 3	Associate	31533797
Osteomalacia	Stimulate	32384911
Osteomalacia	Associate	40133996
Osteoporosis	Associate	35288591
Osteosarcoma	Associate	16565597, 35584348
Ovarian Neoplasms	Associate	19048115, 24448499, 25710373, 31043489, 32294438, 33432021, 33560870, 33734413, 36721777
Pain	Associate	16033085, 28398289, 35093157, 35840301, 38216958
Pain	Stimulate	37996843
Papilledema	Associate	35801779
Paraganglioma	Associate	19657044, 20505258, 20980436, 24466223, 25459911, 28122379, 37717273
Paraganglioma Extra Adrenal	Associate	36760809
Paraparesis Spastic	Associate	10766898
Parathyroid Neoplasms	Associate	30373905
Peripheral Arterial Disease	Associate	32694667
Peripheral Nervous System Neoplasms	Associate	14627667, 16406348, 17327286, 20049725, 22108604, 23101500, 25884485, 29893754, 29973652, 31053152, 32561749, 32606289, 33903738, 34992063, 35484894
Personality Disorders	Associate	35503937
Pheochromocytoma	Associate	11404820, 16098460, 16098468, 19269919, 19657044, 19763184, 20154675, 20219130, 20505258, 20980436, 24466223, 24694336, 24925884, 26960314, 28162975, 29159601, 29386211, 31301733, 33397040, 34334593, 36187102, 36440216, 36760809, 37062455, 40235160, 8732460
Piebaldism	Associate	22136869, 23374959
Pigmentation Disorders	Associate	9036924
Pituitary Neoplasms	Associate	36440216
Platelet Disorder Familial with Associated Myeloid Malignancy	Associate	7949098, 8302341, 8943868, 9180088
Pleural Effusion	Associate	31534501
Pleural Effusion Malignant	Associate	37095178
Polycystic Kidney Autosomal Dominant	Associate	32533764
Polycythemia Vera	Associate	34793666, 37186028
Polyendocrinopathies Autoimmune	Associate	37717273
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	20435627, 28408464
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	20065082, 20067559, 22675565
Primary Immunodeficiency Diseases	Associate	19839503
Primary Myelofibrosis	Inhibit	18723266
Primary Myelofibrosis	Associate	20015882, 23066032, 23996481, 38386293
Prodromal Symptoms	Associate	30872465
Prostatic Neoplasms	Associate	26925973
Prostatic Neoplasms Castration Resistant	Associate	30620391
Proteinuria	Associate	34678898
Proteus Syndrome	Associate	21347399
Pseudarthrosis	Associate	16773574, 17914491, 22488919, 24218100, 24932921, 26822862, 28433079, 31066482, 31533797
Pseudoachondroplasia	Associate	36890482
Puberty Precocious	Associate	39279083
Pulmonary Arterial Hypertension	Associate	28694401
Pulmonary Valve Stenosis	Associate	23047742, 26178382, 31487937, 31595648
Radiculopathy	Associate	35093157
Rectal Diseases	Associate	37387515
Renal Artery Obstruction	Stimulate	29382000, 39799317
Renal Artery Obstruction	Associate	31990487, 34476477
Retinal Arterial Macroaneurysm	Associate	30045273
Retinal Dysplasia	Associate	17914491
Retinoblastoma	Associate	31736278
Rhabdomyosarcoma	Associate	33372952, 34095712, 39368853
Salivary Duct Calculi	Associate	30946933
Salivary Gland Neoplasms	Associate	39780157
Salter Harris Fractures	Associate	36714562
Sarcoma	Associate	29881993, 31645347, 32213089, 34939467, 37536918
Sarcoma Ewing	Associate	31645347
Schizophrenia	Associate	30710873, 35503937
Schwannomatosis	Associate	22083253, 22558206, 24443315
Scoliosis	Associate	16138229, 17914491, 24218100, 32814709, 34413392
Seizures	Associate	22241097, 29566708, 35093157, 36973520
Short Bowel Syndrome	Associate	38469797
Sialic Acid Storage Disease	Associate	32107864
Signs and Symptoms	Stimulate	31301733
Signs and Symptoms Digestive	Associate	33911094
Simpson Golabi Behmel syndrome	Associate	20125191, 20513137
Skeletal Defects Genital Hypoplasia And Mental Retardation	Associate	18317233
Skin Diseases	Associate	20219130, 34992063, 36370836
Skin Diseases	Stimulate	36717073
Small Cell Lung Carcinoma	Associate	24978188
Social Communication Disorder	Associate	23881898, 31558455
Solitary Fibrous Tumors	Associate	24708790
Spasms Infantile	Associate	31175295
Spastic paraplegia 23	Associate	35188187
Speech Disorders	Associate	31703719
Sphenoid Sinusitis	Inhibit	33402484
Spinal Neoplasms	Associate	23417386
Status Epilepticus	Associate	35288591
Stenosis Pulmonary Artery	Associate	29926437
Stomach Neoplasms	Associate	26857264, 27827403
Strabismus	Associate	31703719
Stroke	Associate	29364453, 31990487
Subarachnoid Hemorrhage	Associate	29386211
Summitt syndrome	Associate	39609892
Syndrome	Associate	10631140, 29483232, 37145209
Tangier Disease	Associate	34233200
Telfer Sugar Jaeger syndrome	Associate	20137753
Terminal Osseous Dysplasia and Pigmentary Defects	Associate	23583712
Thakker Donnai syndrome	Associate	11258348, 22965669
Thalamic Diseases	Associate	17299016
Thoracic Injuries	Associate	40225171
Thyroid cancer medullary	Associate	32702947
Thyroid Carcinoma Anaplastic	Associate	25576899
Thyroid Nodule	Associate	34992063
Triple Negative Breast Neoplasms	Associate	30630526, 33059724, 37743642
Turcot syndrome	Associate	35713653
Turner Syndrome	Associate	37252421
Uniparental Disomy	Inhibit	16690971
Uniparental Disomy	Associate	20015894
Urachal adenocarcinoma	Associate	27078850
Urinary Bladder Diseases	Inhibit	10079253
Urticaria Solar	Associate	35876628
Vaginal Discharge	Associate	38471245
Vascular Diseases	Associate	23145129, 24218100, 36239750
Vascular Diseases	Stimulate	28398289
Vasculitis	Associate	34539959
Vasculopathy Retinal With Cerebral Leukodystrophy	Associate	24218100
Vision Disorders	Associate	22723888
Vitamin D Deficiency	Associate	16571643
von Hippel Lindau Disease	Associate	37717273
Waardenburg Syndrome	Associate	20137753
Xanthogranuloma Juvenile	Associate	19785027, 34032360
Xerostomia	Stimulate	25759173
Xerostomia	Associate	33602260