PALB2 (partner and localizer of BRCA2)

Gene

• Entrez ID: 79728
• Gene name: Partner and localizer of BRCA2
• Gene symbol: PALB2
• Synonyms (NCBI Gene): BROVCA5, FANCN, PNCA3
• Chromosome: 16
• Chromosome location: 16p12.2
• Summary: This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs45439097	C>G,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Synonymous variant, 3 prime UTR variant, coding sequence variant
rs45476495	C>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs45478192	A>C	Uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs45494092	A>C,G,T	Pathogenic, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs45510998	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs45548638	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs45561331	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs45594034	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs61756147	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs62625271	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs62625272	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs62625278	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs62625284	A>G,T	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, missense variant, coding sequence variant
rs78179744	G>A,C,T	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained, missense variant
rs118203997	A>C,G,T	Pathogenic-likely-pathogenic, likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs118203998	G>C,T	Not-provided, pathogenic-likely-pathogenic, risk-factor, pathogenic	Coding sequence variant, stop gained, 3 prime UTR variant
rs118203999	G>A	Risk-factor, pathogenic	Coding sequence variant, stop gained
rs139555085	C>T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	5 prime UTR variant, coding sequence variant, missense variant
rs140776736	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs141749524	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign	Coding sequence variant, missense variant
rs142103232	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs146218439	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs146377793	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs146455175	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147045425	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs148026749	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs149522412	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign-likely-benign	Coding sequence variant, missense variant
rs151316635	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant, synonymous variant
rs180177083	G>A,T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, missense variant
rs180177084	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs180177085	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs180177090	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs180177091	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs180177092	AG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs180177094	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, missense variant
rs180177097	G>A	Risk-factor, pathogenic	Coding sequence variant, stop gained
rs180177098	TT>AGA	Pathogenic	Coding sequence variant, frameshift variant
rs180177099	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs180177100	G>A	Pathogenic	Coding sequence variant, stop gained
rs180177102	AA>-,A	Risk-factor, pathogenic	Coding sequence variant, frameshift variant
rs180177103	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs180177110	G>A,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs180177111	G>A	Risk-factor, pathogenic	Coding sequence variant, stop gained
rs180177112	C>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs180177113	->AG	Pathogenic	Coding sequence variant, frameshift variant
rs180177115	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, synonymous variant
rs180177116	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs180177122	C>T	Pathogenic	Coding sequence variant, stop gained
rs180177124	G>A	Pathogenic	Coding sequence variant, stop gained
rs180177125	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs180177126	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs180177127	->A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs180177131	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs180177132	C>T	Pathogenic-likely-pathogenic, risk-factor, pathogenic	Coding sequence variant, stop gained
rs180177133	T>-	Risk-factor, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, intron variant, frameshift variant
rs180177135	T>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs180177136	T>C,G	Pathogenic-likely-pathogenic, uncertain-significance, likely-pathogenic, pathogenic	Intron variant
rs180177138	C>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs180177142	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs180177143	ACAA>-	Pathogenic-likely-pathogenic, risk-factor, pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs183489969	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign-likely-benign	Coding sequence variant, missense variant, synonymous variant
rs200283306	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, missense variant, coding sequence variant
rs200620434	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200937538	G>A	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs201035780	C>G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201042302	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202241382	A>C	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs367578415	T>A,C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs367979106	C>A,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs370422990	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs371142570	C>G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs373478248	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs373876101	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs375699023	G>A,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs376641234	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs377626805	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs515726060	TTTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs515726065	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs515726067	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs515726071	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs515726072	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs515726073	TT>C,T	Pathogenic	Frameshift variant, coding sequence variant
rs515726075	->T	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs515726081	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs515726085	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, 5 prime UTR variant, coding sequence variant
rs515726099	C>G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs515726103	T>A,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs515726104	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs515726111	C>G,T	Likely-pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant, intron variant
rs515726117	C>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs515726122	G>A,T	Pathogenic-likely-pathogenic, uncertain-significance, pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, stop gained
rs515726123	CT>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs515726126	->A	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs515726127	C>A,T	Uncertain-significance, pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, stop gained
rs536644825	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs576081828	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587776406	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs587776407	G>A,T	Pathogenic	Stop gained, missense variant, 5 prime UTR variant, coding sequence variant
rs587776409	ATTAGAA>-	Pathogenic	Stop gained, coding sequence variant
rs587776410	CTTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776411	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs587776412	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776413	G>C	Pathogenic	Stop gained, coding sequence variant
rs587776414	TGGCAAAAGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776415	G>A	Pathogenic	Stop gained, coding sequence variant
rs587776416	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776417	C>A,G,T	Conflicting-interpretations-of-pathogenicity, risk-factor, likely-pathogenic, pathogenic	Splice acceptor variant
rs587776418	TA>-	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs587776419	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs587776420	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776423	C>A,G	Pathogenic-likely-pathogenic, uncertain-significance, likely-pathogenic	Splice donor variant, intron variant
rs587776424	AAGT>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs587776425	->T	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs587776426	->T	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs587776427	AC>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs587776428	AG>-	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs587776527	G>A,C	Risk-factor, pathogenic, pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, stop gained, coding sequence variant
rs587778584	T>-	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs587778586	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs587778587	C>A,G,T	Uncertain-significance, likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, stop gained, coding sequence variant
rs587780205	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs587780210	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587780211	AGGTTGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587780821	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587780824	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant
rs587781457	C>T	Pathogenic	Stop gained, coding sequence variant
rs587781560	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant
rs587781697	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs587781818	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs587781840	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs587781890	CA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs587781954	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs587782005	T>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs587782050	C>A,T	Uncertain-significance, pathogenic	Missense variant, 3 prime UTR variant, stop gained, coding sequence variant
rs587782081	A>-	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs587782217	C>A,T	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, 3 prime UTR variant, stop gained, coding sequence variant
rs587782232	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs587782337	GGTT>NNNNNNNN,TCATTAAC	Likely-pathogenic, pathogenic	Frameshift variant, intron variant, coding sequence variant
rs587782443	T>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs587782446	G>A	Pathogenic	Stop gained, coding sequence variant
rs587782531	AC>TA	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs587782566	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs587782570	->T	Pathogenic	Frameshift variant, coding sequence variant
rs587782680	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs587782831	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs587782892	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs730881865	T>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs730881866	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs730881867	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs730881868	->AACC	Pathogenic	Frameshift variant, coding sequence variant
rs730881869	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs730881870	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs730881871	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs730881872	T>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs730881874	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Synonymous variant, coding sequence variant
rs730881876	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs730881879	T>A,C,G	Likely-pathogenic	Splice acceptor variant
rs730881888	A>G,T	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs730881897	T>C,G	Likely-pathogenic	Splice acceptor variant
rs730881898	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs730881905	C>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs730881906	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs745467835	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs745533713	CA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs746604683	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs747148023	AG>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs749494645	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs749602688	G>A,T	Uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, stop gained, coding sequence variant
rs749731838	->GC	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs750650768	G>A,C	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs752592662	A>C	Pathogenic	Stop gained, coding sequence variant
rs753153576	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs753307725	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs754660432	T>C	Likely-pathogenic	Splice acceptor variant
rs755263466	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs755471995	->GGGGTGTGCAGCAAGTT	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs756116550	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs756502783	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs756778249	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs757055720	T>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs757145884	T>A,C	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs757369748	G>A,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs760094988	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs761214886	C>G	Likely-pathogenic	Splice acceptor variant
rs763191051	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs763598472	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs764509489	G>A,C	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained
rs766394024	G>A,T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained, intron variant
rs766487430	A>-,AA	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs767633741	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs769097541	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs769240800	A>C	Pathogenic, likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs769414858	T>-	Benign-likely-benign, benign, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs770996884	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs773829275	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, 3 prime UTR variant, missense variant
rs774049060	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs774057025	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs778309339	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs778345761	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs779278389	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, 5 prime UTR variant, missense variant
rs786201773	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs786202008	->CTCTTTGGCACAGGGAT	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs786202439	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs786203057	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs786203244	ACATTTTTGACTCAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs786203245	T>A	Likely-pathogenic	Splice acceptor variant
rs786203346	->AA	Pathogenic	Coding sequence variant, frameshift variant
rs786203382	AGGAAGCTCTGC>TCTGA	Pathogenic	Coding sequence variant, frameshift variant
rs786203399	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs786203488	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs786203714	A>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs786203775	C>A	Pathogenic	Coding sequence variant, stop gained
rs786203821	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs786203892	TTACCT>-	Pathogenic, likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs786204122	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs786204129	->TCTGAAAAATACAGCTTCC	Pathogenic	Coding sequence variant, frameshift variant
rs786204156	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs863224521	->A	Pathogenic	Coding sequence variant, frameshift variant
rs863224783	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs864622138	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs864622192	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs864622280	C>A,G	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, 5 prime UTR variant, missense variant
rs864622301	->A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs864622481	A>C,G	Likely-pathogenic	Splice donor variant
rs864622498	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs864622622	T>C,G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant, synonymous variant
rs864622695	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs869312772	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs869312774	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs875989789	TT>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs875989790	->T	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs875989791	T>-,TT	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs875989792	->CTTGTTGA	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs876658136	AC>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs876658157	G>C,T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs876658166	G>A	Pathogenic	Stop gained, coding sequence variant
rs876658170	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs876658192	->A	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs876658348	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs876658358	GAATGTTTATGCAGCTCCTGGCA>ATTGTACCTT	Pathogenic	Frameshift variant, coding sequence variant
rs876658431	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs876658695	->CAAT	Pathogenic	3 prime UTR variant, stop gained, coding sequence variant
rs876658773	C>A,T	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs876658813	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs876658855	->TTA	Pathogenic	Stop gained, coding sequence variant
rs876658979	A>C,G,T	Pathogenic, uncertain-significance	Missense variant, stop gained, 5 prime UTR variant, coding sequence variant
rs876658983	C>T	Pathogenic	Stop gained, coding sequence variant
rs876659036	C>A,G	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs876659319	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs876659326	AGGAA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs876659328	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs876659341	->A	Pathogenic	Stop gained, coding sequence variant
rs876659354	G>A,T	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs876659378	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs876659405	TA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs876659463	C>G,T	Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs876659571	TTCA>-	Pathogenic, pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs876659697	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs876659741	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs876659859	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs876659997	->T	Pathogenic	Frameshift variant, coding sequence variant
rs876660147	->T	Pathogenic	Frameshift variant, coding sequence variant
rs876660193	G>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs876660465	A>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs876660492	TCCAGAAGTC>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs876660574	AAGATTGCTGCTGCACAGTGAT>-	Pathogenic, likely-pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs876660643	TT>-,T	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs876660669	A>C,G	Pathogenic, likely-benign	Synonymous variant, stop gained, coding sequence variant
rs876660678	C>T	Pathogenic	Stop gained, coding sequence variant
rs876660719	ATCTGAGTGAATCA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs878855099	C>A	Pathogenic	Stop gained, coding sequence variant
rs878855105	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs878855118	C>T	Pathogenic	3 prime UTR variant, stop gained, coding sequence variant
rs878855122	C>A,T	Pathogenic	Missense variant, stop gained, 5 prime UTR variant, coding sequence variant
rs879253892	G>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs879253960	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs879253986	->T	Pathogenic	Frameshift variant, coding sequence variant
rs879254015	C>A,T	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs879254033	G>A,C,T	Pathogenic, uncertain-significance	Missense variant, 3 prime UTR variant, stop gained, coding sequence variant
rs879254060	TT>-	Pathogenic, likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs879254113	C>T	Pathogenic, likely-pathogenic	3 prime UTR variant, stop gained, coding sequence variant
rs879254121	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs879254197	G>A	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs886039479	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs886039480	G>A	Pathogenic, likely-pathogenic, not-provided	Stop gained, coding sequence variant
rs886039503	CT>-	Pathogenic, likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs886039613	T>G	Likely-pathogenic	Splice acceptor variant
rs886039614	T>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs886039619	C>T	Likely-pathogenic	Splice acceptor variant, intron variant
rs886039620	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs886039624	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886039626	C>A	Likely-pathogenic	Splice donor variant
rs886039634	A>G,T	Likely-benign, likely-pathogenic	Stop gained, synonymous variant, intron variant, coding sequence variant
rs886039635	GAGTCGT>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886039645	TA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886039683	A>-	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs886039686	G>A	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs886039729	C>G	Likely-pathogenic	Splice donor variant
rs886039738	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886039747	G>A	Pathogenic, likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs886041220	->T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs886041984	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs929474806	G>A	Pathogenic	Coding sequence variant, stop gained
rs982643702	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs995629797	A>T	Pathogenic	Coding sequence variant, stop gained
rs1021662947	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs1057517539	G>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1057517563	A>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs1057517600	G>-	Likely-pathogenic, pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1057517602	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057520645	C>G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1057520653	T>A	Pathogenic	Stop gained, coding sequence variant
rs1057520736	G>A,C,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1060499812	C>A	Pathogenic	Stop gained, coding sequence variant
rs1060499813	GATT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499814	C>T	Likely-pathogenic	Splice donor variant
rs1060499815	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1060499818	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499819	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499821	A>G	Likely-pathogenic	Splice donor variant
rs1060499823	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499824	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499827	T>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1060499828	C>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1060499830	T>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1060499831	T>A,C	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1060502726	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060502734	ATAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060502738	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1060502748	G>C	Pathogenic	Stop gained, coding sequence variant
rs1060502759	TTTT>-,TT,TTT	Pathogenic	Frameshift variant, coding sequence variant
rs1060502760	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1060502761	G>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1060502764	T>C	Likely-pathogenic	Splice acceptor variant
rs1060502768	G>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1060502769	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1060502771	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060502772	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1060502781	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060502785	C>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs1060502787	T>C,G	Likely-pathogenic	Splice acceptor variant
rs1060502788	G>A	Pathogenic	Stop gained, coding sequence variant
rs1060502799	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1060502800	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060502803	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060502804	C>A,G	Likely-pathogenic	Splice acceptor variant
rs1060502805	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1064793220	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793772	G>A,C	Uncertain-significance, pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, missense variant
rs1064793827	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064794886	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1064795168	->AT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064795507	C>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1064795640	ATTTT>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1064795824	G>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs1064795953	C>-	Likely-pathogenic, pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1218512317	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, stop gained
rs1219715328	C>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1241049372	G>A,C	Likely-benign, uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1248579792	T>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1257545151	AAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1304351755	C>A,G,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs1327399690	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1440838364	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1485260432	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555457841	G>A	Pathogenic	Stop gained, 3 prime UTR variant, coding sequence variant
rs1555457867	A>T	Pathogenic-likely-pathogenic	Stop gained, 3 prime UTR variant, coding sequence variant
rs1555457878	A>T	Pathogenic	Stop gained, 3 prime UTR variant, coding sequence variant
rs1555458171	G>C	Likely-pathogenic	Splice donor variant, intron variant
rs1555458187	->GCTGAGAG	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555458211	->A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1555458223	A>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555458815	ATCA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555458822	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555458828	->T	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555459386	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555459421	T>G	Likely-pathogenic	Splice acceptor variant
rs1555459520	->AT	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1555459528	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555459530	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1555459540	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555459553	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555459599	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555459709	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555459747	T>G	Likely-pathogenic	Splice acceptor variant
rs1555459925	C>G,T	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs1555459934	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555459949	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555459954	->A	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555459999	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555460007	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555460315	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460323	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555460325	ATTTTCTT>-	Pathogenic-likely-pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555460334	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460360	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555460407	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555460423	->GTTCGTCCAGCAA	Pathogenic	Frameshift variant, coding sequence variant
rs1555460431	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555460442	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460445	G>A,C	Uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1555460457	GTACCTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460463	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460465	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555460490	TAATATGGATG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460526	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460533	T>A	Pathogenic	Stop gained, coding sequence variant
rs1555460548	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460564	->GAAAAATACAGCTTCCCTCT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555460579	T>A	Pathogenic	Stop gained, coding sequence variant
rs1555460584	->TC	Pathogenic	Frameshift variant, coding sequence variant
rs1555460592	C>A,T	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1555460593	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460609	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460627	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555460648	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555460650	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555460670	C>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555460671	ATAA>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555460682	C>-,CC	Likely-pathogenic	Stop gained, frameshift variant, coding sequence variant
rs1555461148	C>A,T	Likely-pathogenic	Splice donor variant
rs1555461154	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555461174	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461176	->T	Pathogenic	Stop gained, coding sequence variant
rs1555461178	T>A,C	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1555461192	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555461217	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461253	T>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1555461256	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555461278	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461280	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461287	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461294	->G	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555461295	G>-	Pathogenic	Stop gained, coding sequence variant
rs1555461323	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461339	T>A	Pathogenic	Stop gained, coding sequence variant
rs1555461358	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1555461363	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555461366	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555461385	CATAA>-	Likely-pathogenic	Stop gained, inframe indel, coding sequence variant
rs1555461386	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1555461407	C>-	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1555461408	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461413	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555461415	A>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555461427	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs1555461451	T>-,TT	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555461460	ACTGGGAGATTTTAAAGAT>CC	Pathogenic	Frameshift variant, coding sequence variant
rs1555461467	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461472	A>-	Pathogenic	Stop gained, coding sequence variant
rs1555461484	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461488	->AG	Pathogenic	Frameshift variant, coding sequence variant
rs1555461502	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461514	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461517	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555461551	GGTTATC>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555461553	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461558	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555461574	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1555461586	TCTA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461595	T>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461597	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461602	GTCG>-	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555461606	GTGAGTAGTAAGTTCACTG>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461611	->T	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461618	->TA	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461627	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555461628	->G	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461634	C>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461683	TAAT>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461684	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461693	C>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555461695	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461697	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461704	G>-	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461727	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461733	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461765	GACA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461777	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461788	C>A	Pathogenic-likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555461790	->GCTTCTTTCTTCTGCT	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461796	C>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461825	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461846	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461868	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461870	AT>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555461875	T>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555462026	C>A,T	Likely-pathogenic	Splice donor variant
rs1555462031	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555462076	->CTTT	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567204928	->AA	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1567204932	AATA>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1567206753	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs1567206756	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1567206804	AG>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567206813	AGTCG>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567206823	->A	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567206909	ACGAC>GGCT	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567209835	->T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1567209922	->A	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567212825	TAGTAGTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567213009	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant
rs1567214312	GATTTCCA>-	Pathogenic	Stop gained, coding sequence variant
rs1567214484	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567214493	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1567215519	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1567217830	AG>C	Pathogenic	Frameshift variant, coding sequence variant
rs1567217898	A>C	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs1567217908	GG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567218036	GTATTTAAAGGAGT>C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567218690	->A	Pathogenic	Stop gained, coding sequence variant
rs1567220542	CTGATATTTGTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1567220758	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567220784	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1567220802	G>T	Pathogenic	Stop gained, coding sequence variant
rs1567221328	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1567221417	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567221493	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567221521	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567221761	GTTC>TTTTTT	Pathogenic	Frameshift variant, coding sequence variant
rs1567221851	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567222143	C>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1567222476	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567222523	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567222580	CT>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567222636	C>A	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1567222725	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567222943	TG>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567223192	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567224146	C>T	Likely-pathogenic	Synonymous variant, 5 prime UTR variant, coding sequence variant
rs1567224232	A>C	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1597061983	C>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained
rs1597062038	G>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained
rs1597062083	G>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs1597062296	A>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained
rs1597062406	C>G	Likely-pathogenic	Splice acceptor variant
rs1597066595	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1597073208	C>A	Likely-pathogenic	Intron variant
rs1597073266	CTGAAG>TGATT	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1597073423	C>-	Pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1597079557	C>T	Likely-pathogenic	Splice donor variant
rs1597079711	->CC	Pathogenic	Coding sequence variant, frameshift variant
rs1597079810	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597079941	TGC>GT	Pathogenic	Coding sequence variant, frameshift variant
rs1597081202	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597081571	ACAAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597082860	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597082866	->CTGG	Pathogenic	Coding sequence variant, frameshift variant
rs1597082876	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1597088146	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597088245	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597088811	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597089246	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1597089434	CTGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597089469	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597089741	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597089845	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1597089904	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597090031	GTATTTAAAGGAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1597090059	A>T	Pathogenic	Coding sequence variant, stop gained
rs1597090146	G>C	Pathogenic	Coding sequence variant, stop gained
rs1597090324	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597090596	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597090656	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597090894	T>A	Pathogenic	Coding sequence variant, stop gained
rs1597090903	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597091230	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1597091247	GCCGTGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597091425	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597091518	C>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1597095394	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597095683	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597096243	C>A	Pathogenic	Coding sequence variant, stop gained
rs1597096326	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1597096338	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597096949	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1597097072	C>A	Pathogenic	Coding sequence variant, stop gained
rs1597097182	AG>-	Pathogenic	Coding sequence variant, stop gained
rs1597097408	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597097438	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597097936	->C	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597098094	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597098138	G>-	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1597098679	T>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597098739	A>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597098943	TC>AAAGGAACTA	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1597098971	CTTTA>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597098996	->GT	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597099149	TC>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597099331	->T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597099523	C>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1597101532	T>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597101736	CGATTCACTTA>GCCG	Likely-pathogenic	Intron variant, splice donor variant
rs1597101776	->G	Likely-pathogenic	Splice donor variant
rs1597101822	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597101885	T>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597101949	T>-	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT046846	hsa-miR-221-3p	CLASH	23622248
MIRT1211685	hsa-miR-299-3p	CLIP-seq
MIRT1211686	hsa-miR-3153	CLIP-seq
MIRT1211687	hsa-miR-3924	CLIP-seq
MIRT1211688	hsa-miR-4648	CLIP-seq
MIRT1211689	hsa-miR-4654	CLIP-seq
MIRT1211690	hsa-miR-4668-5p	CLIP-seq
MIRT1211691	hsa-miR-4769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	19369211, 19423707, 28398198
GO:0000724	Process	Double-strand break repair via homologous recombination	IEA
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	26323318
GO:0001701	Process	In utero embryonic development	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001833	Process	Inner cell mass cell proliferation	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IDA	20871616
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	17420451, 19369211, 19423707, 19609323, 20332121, 20871616, 22193777, 22244764, 22293751, 24141787, 24485656, 25960410, 26833090, 28319063, 28514442, 29656893, 30410870, 32296183, 33961781, 34591612
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	19369211
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007498	Process	Mesoderm development	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0032991	Component	Protein-containing complex	IDA	26833090
GO:0035264	Process	Multicellular organism growth	IEA
GO:0036342	Process	Post-anal tail morphogenesis	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:1990391	Component	DNA repair complex	IPI	19369211

Other IDs

• MIM: 610355
• HGNC: 26144
• e!Ensembl: ENSG00000083093

Protein

• UniProt ID: Q86YC2
• Protein name: Partner and localizer of BRCA2
• Protein function: Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks (PubMed:16793542, PubMed:19369211, PubMed:19423707, PubMed:22941656, PubMed:24141787, PubMed:28319063). Strongly stimulat
• PDB: 2W18, 3EU7, 7S4A, 8YAP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16756	PALB2_WD40	834 → 1184	Partner and localizer of BRCA2 WD40 domain	Domain

• Sequence:

  MDEPPGKPLSCEEKEKLKEKLAFLKREYSKTLARLQRAQRAEKIKHSIKKTVEEQDCLSQ
  QDLSPQLKHSEPKNKICVYDKLHIKTHLDEETGEKTSITLDVGPESFNPGDGPGGLPIQR
  TDDTQEHFPHRVSDPSGEQKQKLPSRRKKQQKRTFISQERDCVFGTDSLRLSGKRLKEQE
  EISSKNPARSPVTEIRTHLLSLKSELPDSPEPVTEINEDSVLIPPTAQPEKGVDTFLRRP
  NFTRATTVPLQTLSDSGSSQHLEHIPPKGSSELTTHDLKNIRFTSPVSLEAQGKKMTVST
  DNLLVNKAISKSGQLPTSSNLEANISCSLNELTYNNLPANENQNLKEQNQTEKSLKSPSD
  TLDGRNENLQESEILSQPKSLSLEATSPLSAEKHSCTVPEGLLFPAEYYVRTTRSMSNCQ
  RKVAVEAVIQSHLDVKKKGFKNKNKDASKNLNLSNEETDQSEIRMSGTCTGQPSSRTSQK
  LLSLTKVSSPAGPTEDNDLSRKAVAQAPGRRYTGKRKSACTPASDHCEPLLPTSSLSIVN
  RSKEEVTSHKYQHEKLFIQVKGKKSRHQKEDSLSWSNSAYLSLDDDAFTAPFHRDGMLSL
  KQLLSFLSITDFQLPDEDFGPLKLEKVKSCSEKPVEPFESKMFGERHLKEGSCIFPEELS
  PKRMDTEMEDLEEDLIVLPGKSHPKRPNSQSQHTKTGLSSSILLYTPLNTVAPDDNDRPT
  TDMCSPAFPILGTTPAFGPQGSYEKASTEVAGRTCCTPQLAHLKDSVCLASDTKQFDSSG
  SPAKPHTTLQVSGRQGQPTCDCDSVPPGTPPPIESFTFKENQLCRNTCQELHKHSVEQTE
  TAELPASDSINPGNLQLVSELKNPSGSCSVDVSAMFWERAGCKEPCIITACEDVVSLWKA
  LDAWQWEKLYTWHFAEVPVLQIVPVPDVYNLVCVALGNLEIREIRALFCSSDDESEKQVL
  LKSGNIKAVLGLTKRRLVSSSGTLSDQQVEVMTFAEDGGGKENQFLMPPEETILTFAEVQ
  GMQEALLGTTIMNNIVIWNLKTGQLLKKMHIDDSYQASVCHKAYSEMGLLFIVLSHPCAK
  ESESLRSPVFQLIVINPKTTLSVGVMLYCLPPGQAGRFLEGDVKDHCAAAILTSGTIAIW
  DLLLGQCTALLPPVSDQHWSFVKWSGTDSHLLAGQKDGNIFVYHYS

• Sequence length: 1186

Pathways

KEGG:

Homologous recombination
Fanconi anemia pathway

Reactome:

HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange

<

Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Breast Cancer	Malignant tumor of breast	rs869312772, rs587776419, rs180177133, rs886039683, rs587780210, rs180177103, rs1966967065, rs730881868, rs587776527, rs1555457867, rs1555461217, rs587781697, rs1555461765, rs180177135, rs755263466, rs180177111, rs180177136, rs1597062038, rs587782005, rs786203775, rs515726117, rs180177110, rs1555461460, rs786203714, rs878855122, rs45494092, rs863224521, rs587782531, rs1555461407, rs180177100, rs1597091518, rs515726060, rs1060502769, rs587782680, rs1555461586, rs375699023	N/A
Breast Carcinoma	breast carcinoma	rs1060502759, rs1060502772, rs1555461727	N/A
Fanconi Anemia	Fanconi anemia complementation group N	rs180177134, rs774949203, rs876658813, rs747148023, rs1060499823, rs587776416, rs515726073, rs730881876, rs180177135, rs730881879, rs587776410, rs786203488, rs118203997, rs180177112, rs118203998, rs180177113, rs180177085, rs180177110, rs180177092, rs1060502748, rs118203999, rs180177126, rs755471995, rs180177133	N/A
Pancreatic cancer	Pancreatic cancer, susceptibility to, 3	rs886039619, rs587776527, rs745533713, rs876659571, rs1555460431, rs587778587, rs118203998, rs587776417, rs864622498	N/A
Colonic Neoplasms	Colonic neoplasm	rs1060502734	N/A
colorectal cancer	Colorectal cancer	rs1567221417, rs180177084	N/A
gastric cancer	Gastric cancer	rs180177100, rs1966858562, rs1555460315, rs730881869, rs1021662947, rs876658348, rs587776416, rs180177103, rs1966967065, rs1967016153, rs876658431, rs1060502734, rs1967113484, rs876659326, rs587776408, rs1224428422, rs1555460548, rs1597096243, rs1555461154, rs864622481	N/A
lung cancer	Lung cancer	rs878855122	N/A
Lynch syndrome	Lynch syndrome 1	rs180177099	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Anaplastic Ependymoma	anaplastic ependymoma	N/A	N/A	ClinVar
Bile Duct Neoplasms	Bile duct cancer	N/A	N/A	ClinVar
Bipolar Disorder	Bipolar disorder	N/A	N/A	GWAS
Chordoma	chordoma	N/A	N/A	ClinVar
Endometrial carcinoma	endometrial carcinoma	N/A	N/A	ClinVar
hereditary cancer	Hereditary cancer	N/A	N/A	ClinVar
ovarian cancer	Ovarian cancer	N/A	N/A	ClinVar
Ovarian cancer	Familial ovarian cancer, familial ovarian cancer	N/A	N/A	ClinVar, GenCC
Papillary thyroid carcinoma	papillary thyroid carcinoma	N/A	N/A	ClinVar
Retinoblastoma	retinoblastoma	N/A	N/A	ClinVar
Triple Negative Breast Neoplasms	Triple-negative breast cancer	N/A	N/A	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	31976786, 37452825
Adenocarcinoma Mucinous	Associate	34103667
Adenoma	Associate	33403473
Adenomatous Polyposis Coli	Associate	39519399
Alternating hemiplegia of childhood	Associate	28398700
Anemia Hemolytic	Associate	24949998, 26990772
Anodontia	Associate	33229504
Anophthalmia with pulmonary hypoplasia	Associate	31787751, 31976786, 36717525, 37200008
Anxiety Disorders	Associate	25390645
Biliary Tract Neoplasms	Associate	32012241, 36243179
Bipolar Disorder	Associate	28283021
Bohring syndrome	Associate	36978154
Bone Marrow Failure Disorders	Associate	28837162
Brain Neoplasms	Associate	32554798, 34687993
Breast Diseases	Associate	29802286
Breast Neoplasms	Associate	16793542, 17200668, 17292821, 17420451, 18053174, 18288683, 18637200, 19264984, 19584259, 20003494, 20122277, 20512659, 20871615, 21113654, 21165770, 21182766, 21285249, 21356067, 21365267, 21637299, 21932393, 22166947, 22241545, 22331464, 22383991, 23038782, 23302520, 23409019, 23448497, 23787919, 23935836, 23941127, 23977390, 24141787, 24153426, 24206657, 24415441, 24485656, 24556926, 24591564, 24884479, 24949998, 25099575, 25288723, 25428789, 25447460, 25452441, 25575445, 25636233, 26283626, 26489409, 26640152, 26641009, 26873923, 27464310, 27595995, 27624329, 27648926, 27757719, 27902704, 28011157, 28027327, 28158555, 28279176, 28319063, 28407996, 28418444, 28419251, 28664506, 28779002, 28796317, 28837162, 28864920, 28891274, 29052111, 29325031, 29338689, 29422015, 29522266, 29802286, 29988077, 30054569, 30086788, 30099541, 30128536, 30130155, 30255452, 30257646, 30287823, 30303537, 30309218, 30890586, 30947698, 30964716, 31017574, 31206626, 31300551, 31342359, 31575519, 31586400, 31636395, 31841383, 31871109, 32068069, 32091585, 32125938, 32300229, 32318955, 32339256, 32427313, 32609350, 33113089, 33169439, 33277227, 33318493, 33421217, 33455826, 33471991, 33560870, 33606809, 33826040, 33964450, 33976419, 34036661, 34042955, 34101481, 34113003, 34196900, 34230637, 34282249, 34292776, 34299313, 34377931, 34455229, 34461861, 34672684, 34793666, 34846068, 34857041, 34866136, 34946951, 34977446, 35054852, 35084436, 35167615, 35187501, 35264596, 35277653, 35293552, 35329227, 35333900, 35353237, 35396981, 35409110, 35468796, 35564499, 35585550, 35779338, 35868849, 35886069, 36122798, 36162852, 36175305, 36232564, 36315097, 36509001, 36655350, 36827971, 37084156, 37096751, 37169825, 37344780, 37470892, 37628581, 37628606, 37661222, 37861889, 37992259, 38098088, 38244928, 38326120, 38422475, 38636249, 39226054, 39684352, 40288678, 40428378, 40523834
Breast Neoplasms	Inhibit	23585894
Breast Neoplasms	Stimulate	26534844
Breast Neoplasms Male	Associate	20927582, 27648926, 28008555, 31841383, 32554798, 34461861, 39889220
Breast Neoplasms Male	Stimulate	37262986
Calcinosis Cutis	Associate	36446039, 37628606
Capillary Malformation Arteriovenous Malformation	Associate	28837162
Carcinogenesis	Associate	34946951, 35333900
Carcinoma Basal Cell	Associate	30089731
Carcinoma Ductal	Associate	25575445
Carcinoma Ductal Breast	Associate	23302520
Carcinoma Intraductal Noninfiltrating	Associate	31060593, 33758026
Carcinoma Ovarian Epithelial	Associate	30640700, 36162851, 37493628
Carcinoma Pancreatic Ductal	Associate	24293293, 27732944, 27768182, 28726808, 29802286, 31787751, 31976786, 32669374, 33229504, 34341011, 35171259, 35737913, 36409970, 36978154, 36999792, 38086003
Carcinoma Pancreatic Ductal	Stimulate	35445726
Cardiac Output Low	Associate	40399292
Choroiditis	Associate	33403473
Colorectal Neoplasms	Associate	27978560, 29118424, 29478780, 35567913, 36243179, 36717525, 38326120
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	28135145, 37861889
DNA Repair Deficiency Disorders	Associate	33662100
DNA Virus Infections	Associate	35606411
Drug Hypersensitivity	Associate	20003494
Endometrial Neoplasms	Associate	36744932
Esophageal Neoplasms	Associate	36175305
Familial Multiple Lipomatosis	Associate	26845227
Fanconi Anemia	Associate	17200668, 17292821, 19268590, 20871616, 21932393, 22331464, 22383991, 23038782, 24141787, 26420486, 27277787, 31017574, 31586400, 32554798, 34549727, 34687993
Friedreich Ataxia 1	Associate	31586400
Gallbladder Neoplasms	Associate	33328484
Gastrointestinal Stromal Tumors	Associate	33854214
Genetic Diseases Inborn	Associate	19264984
Glioma	Associate	32554798
Graft vs Host Disease	Associate	28024868, 30640700
Hereditary Breast and Ovarian Cancer Syndrome	Associate	20122277, 20332121, 23300655, 23302520, 23935836, 23941127, 24141787, 24549055, 24591564, 25925845, 26976419, 27067391, 27757719, 27779110, 28279176, 28874143, 29052111, 29988077, 30306255, 30309218, 30927251, 31650731, 31841383, 32300229, 33113089, 33421217, 33646313, 34113003, 34299313, 34946951, 35451682, 35608067, 36307613, 37169825, 37563628, 37861889, 39684258, 40428378
Inflammation	Associate	24591564
Inflammatory Breast Neoplasms	Associate	30933323, 34445631
Leukemia Myeloid Acute	Associate	26689913, 32868804, 34687993, 38608356
Lung Neoplasms	Associate	36175305
Lupus Erythematosus Systemic	Associate	32636238
Lymphoma B Cell	Associate	26990772
Lymphoma B Cell Marginal Zone	Associate	26990772
Medulloblastoma	Associate	29753700, 32056145, 32554798, 34687993
Melanoma	Associate	24949998, 26106605
Migraine Disorders	Associate	34113003
Mitochondrial Complex II Deficiency	Associate	33854214
Neoplasm Invasiveness	Associate	29422015
Neoplasm Metastasis	Associate	32657779, 37169825
Neoplasm Residual	Associate	33420229
Neoplasms	Associate	16793542, 20003494, 20122277, 22331464, 23302520, 23787919, 24141787, 24153426, 24293293, 24949998, 25099575, 26640152, 26681312, 26689913, 26845227, 27595995, 27621404, 28135145, 28158555, 28319063, 28837162, 29053726, 29118424, 29706558, 29753700, 31090900, 31586400, 31601699, 31636395, 31682005, 31841383, 31937788, 32012241, 32068069, 32091585, 32234758, 32554798, 33149131, 33229504, 34006922, 34045297, 34113003, 34133209, 34282249, 34308104, 34371384, 34687993, 34846068, 34946951, 35167615, 35606411, 36107942, 36253484, 36411032, 36529447, 36655350, 36716415, 36999792, 37002487, 37200008, 37460928, 37507557, 37515473, 38041901, 38105176, 38254917, 39577422, 39745016, 40399292, 40421962
Neoplasms	Inhibit	20871615, 20871616, 24591564, 25113031, 26420486, 27434671, 31017574, 35564499, 36038612
Neoplasms Cystic Mucinous and Serous	Associate	40428378
Neoplasms Germ Cell and Embryonal	Associate	26990772
Neoplasms Multiple Primary	Associate	30309218
Neoplasms Second Primary	Associate	26641009
Neoplastic Syndromes Hereditary	Associate	30099541, 35445726, 35456488, 36243179, 36261688, 40388595
Nephrosis Lipoid	Associate	23787919
Neuroblastoma	Associate	34687993
Non Muscle Invasive Bladder Neoplasms	Associate	39817975
Ovarian Diseases	Associate	23302520
Ovarian Neoplasms	Associate	20122277, 21285249, 23302520, 24240112, 24448499, 26315354, 26718727, 26873923, 27757719, 28591191, 29052111, 31841383, 32546565, 32853479, 33560870, 33976419, 34672090, 34740923, 36307613, 36411032, 37169825, 38041901, 38326120, 40210464, 40428378
Ovarian Neoplasms	Stimulate	37493628
Pancreatic Diseases	Associate	35171259
Pancreatic Neoplasms	Associate	19264984, 19690177, 21285249, 21365267, 22162228, 22166947, 23561644, 23935836, 25076338, 25356972, 25479140, 26098869, 26440929, 27197284, 27488870, 27732944, 28767289, 29223478, 29506128, 29961768, 30883245, 31787751, 31841383, 31856090, 32354656, 32554798, 33169439, 33976419, 34034685, 34341011, 34620795, 35171259, 35779338, 36175305, 36717525, 39256447
Pancreatitis	Associate	35171259
Personality Disorders	Associate	20003494, 34006922
Polycythemia Vera	Associate	32609350, 33606809, 37024097, 37169825, 40288678
Polycythemia Vera	Stimulate	34793666
Prodromal Symptoms	Associate	31976786
Prostatic Neoplasms	Associate	18288683, 20003494, 27595995, 30833416, 31629422, 32234758, 32853339, 34006922, 34388386, 35054852, 35534218, 35606411, 35666082, 35820087, 35986085, 36446039, 37415201, 38014910, 38452035
Prostatic Neoplasms Castration Resistant	Associate	33906368, 39577422
Recombinant chromosome 8 syndrome	Associate	30293905, 32636238, 33149131, 33421217, 35643464, 36243179, 36627197, 36978154, 37193789, 38039432, 38041901
Rufous oculocutaneous albinism	Associate	29223478
Sarcoma	Associate	37536918
Spinocerebellar Degenerations	Associate	33229504
Stomach Neoplasms	Associate	26182300, 26689913, 28024868, 29706558, 36484990
Thyroid Neoplasms	Associate	38165228
Triple Negative Breast Neoplasms	Associate	23110154, 25452441, 26489409, 26577449, 29522266, 32339256, 34113003, 34292776, 36315097
Triple Negative Breast Neoplasms	Stimulate	28085182
Urinary Bladder Neoplasms	Associate	38326120
Uterine Cervical Neoplasms	Stimulate	34151839
Uveal melanoma	Associate	33403473
Uveal Neoplasms	Associate	33403473
Wilms Tumor	Associate	34687993