Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	324
Gene name	APC regulator of Wnt signaling pathway
Gene symbol	APC
Synonyms (NCBI Gene)	BTPS2DESMDDP2DP2.5DP3GSPPP1R46
Chromosome	5
Chromosome location	5q22.2
Summary	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause famil

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1801155	T>A	Pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, risk-factor	Coding sequence variant, missense variant
rs1801166	G>C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs2229992	T>A,C,G	Other, pathogenic, benign	Coding sequence variant, synonymous variant, stop gained
rs3797704	A>C,G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, intron variant
rs28933379	G>A	Pathogenic	Coding sequence variant, missense variant
rs35540155	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs62619935	C>G,T	Uncertain-significance, likely-benign, pathogenic	Coding sequence variant, stop gained, missense variant, 5 prime UTR variant, intron variant
rs72541813	C>G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs72541816	C>G	Benign-likely-benign, likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs74535574	C>A,T	Other, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs74953290	C>A,G,T	Uncertain-significance, other, likely-pathogenic, pathogenic	Coding sequence variant, stop gained, missense variant, 5 prime UTR variant
rs75239284	C>A,G,T	Uncertain-significance, other, pathogenic	Coding sequence variant, stop gained, missense variant
rs75870842	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs76685252	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant, 5 prime UTR variant
rs77056664	C>A,T	Other, pathogenic	Coding sequence variant, stop gained, missense variant
rs78847145	G>C,T	Pathogenic, other	Splice acceptor variant, intron variant
rs79122263	C>A,G,T	Uncertain-significance, other, pathogenic	Coding sequence variant, missense variant, stop gained
rs79323615	G>T	Pathogenic, other	5 prime UTR variant, coding sequence variant, stop gained
rs112610898	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs116020626	A>G	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, synonymous variant
rs121913224	AAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs121913326	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs121913327	C>G,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs121913328	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs121913329	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs121913331	C>A,T	Likely-benign, pathogenic, likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs121913332	C>G,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs121913333	C>A,T	Likely-benign, pathogenic, likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs121913462	G>A,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs137854567	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, pathogenic, benign-likely-benign	Coding sequence variant, missense variant
rs137854568	C>T	Pathogenic	Stop gained, coding sequence variant
rs137854569	C>G,T	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant, 5 prime UTR variant
rs137854570	C>G	Pathogenic	Stop gained, coding sequence variant
rs137854571	C>T	Pathogenic	Stop gained, coding sequence variant
rs137854572	C>T	Pathogenic	Stop gained, coding sequence variant
rs137854573	C>T	Pathogenic	Stop gained, coding sequence variant
rs137854574	C>T	Pathogenic	Stop gained, coding sequence variant
rs137854575	C>A,G,T	Likely-benign, pathogenic, benign-likely-benign	Synonymous variant, stop gained, coding sequence variant
rs137854576	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs137854577	C>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs137854578	A>T	Pathogenic	Coding sequence variant, missense variant
rs137854580	C>G,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs137854582	T>A,G	Pathogenic	Stop gained, coding sequence variant
rs137854583	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained, 5 prime UTR variant
rs138098808	G>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs138137162	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs138367627	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs138933660	A>C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs139196838	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, missense variant, coding sequence variant, 5 prime UTR variant
rs139618756	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs140079759	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs141519952	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, benign	Coding sequence variant, missense variant
rs141576417	C>G,T	Not-provided, likely-benign, pathogenic, benign-likely-benign	Missense variant, coding sequence variant, stop gained, 5 prime UTR variant
rs141582813	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs143674116	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs144056494	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs144655979	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs145444830	A>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs145751759	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs145945630	C>T	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant, intron variant, 5 prime UTR variant
rs146115809	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs147394539	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, benign	Coding sequence variant, missense variant
rs147411334	T>C,G	Pathogenic, likely-benign, benign-likely-benign	Coding sequence variant, stop gained, synonymous variant
rs147655929	C>A,T	Likely-benign, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs148275069	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs148878262	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Coding sequence variant, missense variant
rs149154604	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant
rs149353082	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs150209825	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs151163793	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs182456139	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs183468041	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, synonymous variant
rs185154886	T>A,C	Benign-likely-benign, likely-pathogenic, likely-benign, benign	Stop gained, synonymous variant, coding sequence variant, 5 prime UTR variant
rs192620988	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs199740875	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs200151646	A>G	Benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200399245	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs200587641	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs200598389	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs200756935	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs201004111	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201185479	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201375478	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs201472075	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201522866	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs201764637	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant
rs201797422	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs202228932	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs367676584	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs367905430	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs369264968	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs369721828	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs370560998	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs370783137	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs371784771	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs372305287	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs372535376	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs373428732	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs373718658	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, intron variant, stop gained
rs376213437	T>A,C,G	Likely-pathogenic, pathogenic, likely-benign	Stop gained, coding sequence variant, synonymous variant, 5 prime UTR variant
rs376526724	A>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs387906228	AG>-	Pathogenic	Coding sequence variant, splice acceptor variant, 5 prime UTR variant
rs387906229	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906230	T>A,C,G	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs387906231	ATAG>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs387906232	->A	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs387906233	->A	Pathogenic	Frameshift variant, coding sequence variant
rs387906234	AGAG>-,AG	Pathogenic	Frameshift variant, coding sequence variant
rs387906236	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906237	CT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs387906238	AA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs387906239	GA>-	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, frameshift variant
rs397509433	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397514030	AAG>-	Pathogenic	Coding sequence variant, splice donor variant
rs397514031	G>A,C	Pathogenic	Splice acceptor variant
rs397514032	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397515732	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs397515733	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs397515734	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant, 5 prime UTR variant
rs397515735	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs398123116	G>A	Pathogenic	Coding sequence variant, stop gained
rs398123117	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs398123118	TAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs398123119	G>C,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs398123120	C>-	Pathogenic	Coding sequence variant, stop gained
rs398123121	C>T	Pathogenic	Coding sequence variant, stop gained
rs398123122	->T	Pathogenic	Frameshift variant, coding sequence variant
rs529480958	G>A,T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs534358523	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs539108537	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, intron variant, 5 prime UTR variant
rs559510809	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs568149455	G>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs573020080	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs573528468	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs575268622	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs587776520	CTTT>-	Pathogenic	Coding sequence variant, stop gained
rs587779352	ACAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779353	TCAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779780	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs587779783	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs587779786	A>C,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs587779790	A>T	Pathogenic	Coding sequence variant, stop gained
rs587779794	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779796	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs587779798	G>A,C	Pathogenic, likely-pathogenic	Intron variant
rs587779799	G>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs587779803	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587780597	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs587780600	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs587780602	TGCTGC>-,TGC,TGCTGCTGC,TGCTGCTGCTGC	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Inframe deletion, coding sequence variant, inframe insertion
rs587780608	C>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs587781330	ACAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587781392	C>A,G,T	Pathogenic, likely-benign, uncertain-significance	Stop gained, 5 prime UTR variant, missense variant, synonymous variant, coding sequence variant
rs587781451	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587781694	ACAA>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs587781809	T>A,C	Not-provided, pathogenic, likely-pathogenic	Splice donor variant
rs587781816	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs587781910	->GTGTCAG	Pathogenic	Coding sequence variant, frameshift variant
rs587782002	CAA>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Inframe deletion, coding sequence variant
rs587782293	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs587782303	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587782305	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs587782505	TCTA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587782518	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs587782557	AT>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs587782678	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs587782744	T>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587782886	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs587782888	GAT>-,GATGAT	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Inframe deletion, coding sequence variant, inframe insertion
rs587783029	C>T	Pathogenic	Coding sequence variant, stop gained
rs587783030	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs587783031	A>-,AA	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs587783033	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783035	A>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Splice acceptor variant
rs727504420	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs730880250	C>-	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs730881228	AT>-	Pathogenic	Splice donor variant, intron variant
rs730881240	C>T	Pathogenic	Coding sequence variant, stop gained
rs730881244	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs730881247	C>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs730881272	->GA	Pathogenic	Coding sequence variant, frameshift variant
rs730881273	TGAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs730882135	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs746289994	A>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Coding sequence variant, synonymous variant
rs746293695	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, synonymous variant
rs746581330	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs747362422	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs748010172	T>C,G	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant, intron variant
rs749479682	C>G,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, 5 prime UTR variant, missense variant
rs750508765	G>A,T	Likely-pathogenic	Splice donor variant, intron variant
rs752152148	A>C,G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs752654519	C>G,T	Pathogenic, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs752977559	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs754122018	C>G,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs754691867	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs755046558	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs755806668	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs756807560	T>G	Uncertain-significance, likely-pathogenic	Intron variant
rs756912930	G>A,C,T	Uncertain-significance, likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs757020188	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, synonymous variant
rs758044862	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs758987855	G>A,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs761458613	G>A,T	Likely-pathogenic	Splice donor variant
rs762034315	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs762899641	A>C,G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs763578917	A>G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs764255983	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs764527706	C>A,G,T	Likely-benign, uncertain-significance, pathogenic	Synonymous variant, coding sequence variant, stop gained, missense variant
rs765893314	ATT>-	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs766739164	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs766973462	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs767372014	C>G	Pathogenic	Coding sequence variant, stop gained
rs768109346	A>C,G	Pathogenic	Intron variant
rs768922431	C>A,T	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs769727966	A>C,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, missense variant
rs770157475	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs770507436	C>A,T	Pathogenic	Intron variant, coding sequence variant, stop gained, missense variant
rs772745309	C>G,T	Likely-pathogenic, uncertain-significance	Intron variant
rs772806807	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, 5 prime UTR variant
rs773020689	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs773347338	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, 5 prime UTR variant
rs773776516	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs773985321	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs774847203	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs775126020	C>G,T	Pathogenic	Coding sequence variant, stop gained, intron variant, missense variant
rs776966222	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs777603154	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant, 5 prime UTR variant
rs777848503	A>G,T	Likely-pathogenic	Intron variant, splice acceptor variant
rs779068685	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs786201118	AT>-	Pathogenic	Coding sequence variant, stop gained
rs786201134	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs786201291	A>G,T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant
rs786201801	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs786201856	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs786202276	ACCA>TAC	Pathogenic	Coding sequence variant, frameshift variant
rs786202348	TA>-	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs786202351	T>G	Likely-pathogenic	Splice donor variant
rs786202584	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, stop gained
rs786202995	G>T	Pathogenic	Coding sequence variant, stop gained
rs786203020	GAGA>-,GA,GAGAGA	Pathogenic	Coding sequence variant, frameshift variant
rs786203024	TATAAGCTCCGCAATG>-	Pathogenic	Coding sequence variant, frameshift variant
rs786203760	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs786204118	G>T	Pathogenic	Coding sequence variant, stop gained
rs786204169	T>G	Pathogenic	Coding sequence variant, stop gained
rs786204170	C>A	Pathogenic	Coding sequence variant, stop gained
rs794727160	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs863224281	C>G,T	Likely-benign, pathogenic	Coding sequence variant, 5 prime UTR variant, synonymous variant, stop gained
rs863224455	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs863224457	AAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs863224458	G>T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs863224459	A>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs863224535	G>A,C,T	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant, stop gained
rs863224537	A>C,G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, synonymous variant
rs863224552	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs863224817	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant, stop gained
rs863224820	A>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs863225307	C>T	Likely-pathogenic	Coding sequence variant, intron variant, stop gained
rs863225308	T>-,TT	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, frameshift variant
rs863225309	C>T	Pathogenic	Coding sequence variant, stop gained
rs863225310	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs863225311	A>C,G	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Intron variant
rs863225313	G>A,T	Pathogenic	Splice acceptor variant
rs863225314	T>G	Likely-pathogenic	Coding sequence variant, stop gained
rs863225315	ACT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs863225316	G>A	Likely-pathogenic	Splice acceptor variant
rs863225317	A>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs863225318	G>A	Pathogenic	Coding sequence variant, stop gained
rs863225319	TTATTGAAAGTGG>AAT	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs863225321	G>A	Likely-pathogenic, pathogenic	Splice acceptor variant
rs863225322	GAGA>-,GA	Pathogenic	Coding sequence variant, frameshift variant
rs863225323	TAC>A	Likely-pathogenic	Coding sequence variant, inframe indel, stop gained
rs863225325	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs863225326	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs863225327	G>A,C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs863225328	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs863225330	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs863225331	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs863225332	->A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs863225333	->AATTTCAC	Pathogenic	Coding sequence variant, frameshift variant
rs863225334	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs863225335	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs863225336	TGGAGAACTA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs863225337	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs863225338	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs863225339	GA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs863225340	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs863225341	TCTC>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs863225342	TACA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs863225343	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs863225344	C>T	Pathogenic	Coding sequence variant, stop gained
rs863225345	->A	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs863225346	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs863225347	T>A	Pathogenic	Coding sequence variant, stop gained
rs863225348	C>G	Pathogenic	Coding sequence variant, stop gained
rs863225350	->TA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs863225351	->T	Pathogenic	Coding sequence variant, frameshift variant
rs863225352	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs863225353	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs863225354	TA>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, splice acceptor variant
rs863225355	AGAA>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs863225356	C>A,G	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs863225357	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs863225358	AAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs863225359	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs863225360	TGCCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs863225361	->T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs863225362	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs863225363	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs863225364	CTGAAAATGTAA>-	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, splice donor variant
rs863225365	T>A,C	Likely-pathogenic, pathogenic	Splice donor variant
rs863225366	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs863225367	->A	Pathogenic	Coding sequence variant, frameshift variant
rs863225368	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs863225369	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs863225370	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs863225371	A>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant
rs863225372	G>-,GG	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs864622086	AT>-	Pathogenic	Coding sequence variant, stop gained
rs864622106	AA>-,AAA	Pathogenic	Coding sequence variant, frameshift variant
rs864622196	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs864622228	CAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs864622629	T>C,G	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs869312753	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs876658176	->GA	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs876658214	A>G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs876658289	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs876658325	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs876658355	C>A,G,T	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs876658472	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs876658538	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs876658667	G>A	Pathogenic	Coding sequence variant, stop gained
rs876658724	->A	Pathogenic	Coding sequence variant, frameshift variant
rs876658802	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs876658811	G>T	Pathogenic	Coding sequence variant, stop gained
rs876658846	C>A,G	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs876658858	T>C,G	Likely-pathogenic	Splice donor variant
rs876658868	C>T	Pathogenic	Coding sequence variant, stop gained
rs876658941	G>A,C,T	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, stop gained
rs876659015	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs876659022	T>G	Pathogenic	Coding sequence variant, stop gained
rs876659190	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs876659280	C>G	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs876659452	TCTTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs876659460	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs876659517	C>T	Pathogenic	Coding sequence variant, stop gained
rs876659539	C>T	Pathogenic	Coding sequence variant, stop gained
rs876659647	GAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs876659652	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs876659973	G>C	Likely-pathogenic, pathogenic	Splice donor variant
rs876660130	C>T	Pathogenic	Coding sequence variant, stop gained
rs876660174	GTTT>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs876660265	T>A,C	Likely-pathogenic, uncertain-significance, likely-benign	Coding sequence variant, missense variant, synonymous variant
rs876660375	C>A,G	Likely-pathogenic	Coding sequence variant, stop gained
rs876660439	T>A	Pathogenic	Coding sequence variant, stop gained
rs876660454	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs876660496	CAAAT>-	Pathogenic	Coding sequence variant, stop gained
rs876660665	A>T	Pathogenic	Coding sequence variant, stop gained
rs876660765	G>A	Likely-pathogenic, pathogenic	Splice donor variant
rs876660802	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant, stop gained
rs876660816	C>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs878853217	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs878853419	CC>AT	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs878853420	GACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs878853422	CAGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs878853426	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs878853428	T>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs878853432	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs878853436	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs878853438	C>T	Pathogenic	Coding sequence variant, stop gained
rs878853444	A>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs878853449	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs878853451	->A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs878853454	->T	Pathogenic	Coding sequence variant, stop gained
rs878853458	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs878853459	->G	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs878853471	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs879253781	A>-	Pathogenic	5 prime UTR variant, genic upstream transcript variant
rs879253782	A>C	Pathogenic	5 prime UTR variant, genic upstream transcript variant
rs879253783	T>C	Pathogenic	5 prime UTR variant, genic upstream transcript variant
rs879253784	A>G,T	Uncertain-significance, pathogenic	5 prime UTR variant, genic upstream transcript variant
rs879253785	G>A	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant
rs879254032	A>G,T	Likely-pathogenic, pathogenic	Intron variant
rs879254087	A>T	Pathogenic	Splice acceptor variant
rs879254088	->A	Pathogenic	Coding sequence variant, frameshift variant
rs879254089	C>G	Pathogenic	Coding sequence variant, stop gained
rs879254090	G>A,C	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs879254091	AGTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs879254092	C>A,G,T	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs879254110	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant
rs879254148	->TA	Pathogenic	Coding sequence variant, frameshift variant
rs879254149	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs879254155	TAT>AC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs879254169	T>C,G	Likely-pathogenic	Splice donor variant
rs879254226	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs879254283	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs886039507	G>A,C	Likely-pathogenic, pathogenic	Intron variant
rs886039508	A>G	Likely-pathogenic	Intron variant
rs886039509	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs886039510	AT>-	Likely-pathogenic	Intron variant, splice donor variant
rs886039511	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs886039618	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs886039625	A>G	Pathogenic	Splice acceptor variant
rs886039638	CT>-	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs886039639	TTTATCA>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs886039641	CTTCAAAA>TGG	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs886039642	GA>-	Likely-pathogenic, pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs886039682	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs886039687	AACA>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs886042600	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs917976853	C>A	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs964029262	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs973491846	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs975299630	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs980704771	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1019221239	T>A,C,G	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1043505718	G>A	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, missense variant, genic upstream transcript variant
rs1057517544	TGAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517549	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs1057517553	GCCCATA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517558	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057517559	T>C,G	Likely-pathogenic	Splice donor variant
rs1057517561	T>C	Likely-pathogenic	Splice donor variant
rs1057517568	T>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs1057517570	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1057517584	C>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1057518472	G>C,T	Likely-pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1057518901	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519843	AAGATTGGAAC>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1057519844	AAGATTGGAACTAGGTCAGC>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1057519845	GGACC>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1057519846	ATTGATTC>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1057522957	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1057524155	T>C,G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs1060503257	->T	Pathogenic	Splice donor variant
rs1060503259	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503261	G>A	Likely-pathogenic	5 prime UTR variant, synonymous variant, coding sequence variant
rs1060503263	TTGAGTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503282	G>A,C	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1060503287	C>G,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1060503288	C>G,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1060503299	C>A,G	Pathogenic	Stop gained, coding sequence variant
rs1060503305	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503307	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503310	C>G	Pathogenic	Stop gained, coding sequence variant
rs1060503318	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1060503321	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503323	G>A	Likely-pathogenic, pathogenic	Intron variant
rs1060503326	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503327	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503328	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1060503333	C>A,G	Pathogenic	Stop gained, coding sequence variant
rs1060503334	C>G,T	Uncertain-significance, pathogenic	5 prime UTR variant, missense variant, coding sequence variant, stop gained
rs1060503336	G>A	Pathogenic	Stop gained, coding sequence variant
rs1060503340	G>A,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1060503355	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1060503356	->GTAT	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Splice donor variant, intron variant
rs1060503360	AACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503362	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503366	->T	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1064792977	TTTCTTACTAG>-	Likely-pathogenic	Splice acceptor variant, intron variant
rs1064792978	ATAC>TGT	Pathogenic	Coding sequence variant, frameshift variant
rs1064792979	CCTAAAA>AAT	Pathogenic	Coding sequence variant, frameshift variant
rs1064792980	GCAAGCTGCAGTAAA>C	Pathogenic	Coding sequence variant, frameshift variant
rs1064793020	ATAG>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1064793021	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1064793022	A>G	Pathogenic	Intron variant
rs1064793024	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1064793363	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793530	T>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1064793535	C>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1064793716	C>T	Likely-pathogenic, pathogenic	Synonymous variant, coding sequence variant
rs1064793778	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793969	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794042	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794092	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794114	A>T	Pathogenic	Stop gained, coding sequence variant
rs1064794163	A>C,G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1064794224	G>-	Likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1064794225	A>-	Not-provided, pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1064794226	G>A	Pathogenic	Stop gained, coding sequence variant
rs1064794228	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794229	TAAAA>-	Uncertain-significance, pathogenic	Coding sequence variant, frameshift variant
rs1064795228	C>G,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1064795475	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1064795688	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064795724	AG>T	Pathogenic	Coding sequence variant, frameshift variant
rs1064795792	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064795861	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1114167544	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1114167545	C>G	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1114167546	->A	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1114167547	C>T	Pathogenic	Stop gained, coding sequence variant
rs1114167549	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1114167550	A>C	Likely-pathogenic, uncertain-significance	Intron variant
rs1114167551	CAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167552	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant
rs1114167554	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167555	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167558	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1114167559	C>T	Pathogenic	Stop gained, coding sequence variant
rs1114167561	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, frameshift variant
rs1114167562	TGGTCA>-	Pathogenic	Stop gained, inframe indel, coding sequence variant
rs1114167564	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1114167565	->A	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, frameshift variant
rs1114167566	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167567	ACAC>-,AC	Pathogenic	Coding sequence variant, frameshift variant
rs1114167568	G>T	Pathogenic	Stop gained, coding sequence variant
rs1114167569	G>A	Pathogenic	Splice donor variant
rs1114167571	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167573	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167576	CAGCTCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167577	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant
rs1114167578	C>G,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1114167579	T>C	Pathogenic	Splice donor variant
rs1114167580	A>C,G	Likely-pathogenic, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs1114167582	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1114167583	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167584	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167586	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167587	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1114167588	CTA>TT	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1114167589	GAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167592	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1114167593	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, frameshift variant
rs1114167594	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167595	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1114167596	C>T	Pathogenic	Stop gained, coding sequence variant
rs1114167597	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167599	G>A,C,T	Pathogenic	Splice donor variant
rs1114167601	ACC>T	Pathogenic	Coding sequence variant, frameshift variant
rs1114167602	TACT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167603	A>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1114167604	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167606	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167607	T>A	Pathogenic	Stop gained, coding sequence variant
rs1114167608	->A	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1114167609	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1114167613	C>TGT	Pathogenic	Coding sequence variant, frameshift variant
rs1114167614	C>A	Pathogenic	Stop gained, coding sequence variant
rs1114167616	TT>-,T	Pathogenic	Coding sequence variant, frameshift variant
rs1114167617	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1131691136	GACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131691137	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1131691139	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1131691140	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1131691142	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131691143	TTAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131691144	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131691145	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131691146	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1131691253	C>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs1131691555	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1202435147	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs1211642532	G>T	Pathogenic	Coding sequence variant, stop gained
rs1240024893	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1254176854	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1270783041	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1305971005	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1321583762	G>A,T	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1326410920	G>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant, stop gained
rs1392778905	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1408646734	TCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1409414498	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1414406816	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained, 5 prime UTR variant
rs1415318567	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1426881729	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, synonymous variant
rs1462312032	G>T	Pathogenic	Coding sequence variant, stop gained
rs1469278346	TCAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554067104	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant
rs1554067110	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, intron variant
rs1554067124	AA>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant
rs1554067141	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant
rs1554067164	T>C	Likely-pathogenic	Intron variant, splice donor variant
rs1554069481	G>A	Likely-pathogenic	Splice acceptor variant
rs1554069524	->G	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554069549	T>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1554069570	G>A	Pathogenic	Splice donor variant
rs1554069710	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554069805	GGTTCATTTCCAAG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554069828	A>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554069831	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554069850	AG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554071494	A>C,G	Uncertain-significance, likely-pathogenic	Intron variant
rs1554071521	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554071529	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554071555	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554071590	TCTC>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554071602	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554071607	TAGAT>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554071617	GTAA>-	Likely-pathogenic	Intron variant, splice donor variant
rs1554072547	G>A	Pathogenic	Splice acceptor variant
rs1554072560	T>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1554072562	AACA>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554072616	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554074738	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, intron variant
rs1554074759	ACTT>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant
rs1554074762	C>TT	Pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant
rs1554074772	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, intron variant
rs1554074786	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, intron variant
rs1554074793	->C	Pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant
rs1554076129	G>C	Pathogenic	Splice acceptor variant
rs1554076133	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, missense variant
rs1554076216	T>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1554076217	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1554076225	G>A	Pathogenic	Splice donor variant
rs1554079128	T>G	Uncertain-significance, likely-pathogenic	Intron variant
rs1554079938	A>G	Uncertain-significance, likely-pathogenic	Intron variant, splice acceptor variant
rs1554079988	TCTGGATGTCTTCCTCTCCTCATCCAGCTTTTACATGGCAATGACAAAGACTCTGTATTGTTGGGAAATTCCCGGGGCAGTAAAGAGGCTCGGG>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554079996	->AAGGATGATAT	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554080016	GT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554080036	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554080070	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554080082	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554080089	TACT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554080106	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554080162	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554080688	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554080695	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1554080698	GT>-,GTGT	Pathogenic	Coding sequence variant, frameshift variant
rs1554080702	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554080716	TGAAGAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554081629	T>G	Likely-pathogenic	Intron variant
rs1554081631	AGG>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1554081640	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant
rs1554081669	TG>-	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1554081719	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554081749	TT>-,TTT	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1554081752	TGGAGATGTAGCCAACAAGGTATGTTTTT>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554081762	->TA	Pathogenic	Coding sequence variant, stop gained
rs1554081884	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554081901	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs1554081906	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554081910	ACTTACAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554081921	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554081930	GGTACTA>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554081934	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs1554082082	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554082091	T>-,TT	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, frameshift variant
rs1554082100	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554082118	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554082135	G>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs1554083100	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant
rs1554083122	->TG	Pathogenic	Coding sequence variant, stop gained
rs1554083132	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554083134	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs1554083160	GCACT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554083164	CACTCTTACTTACCGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554083205	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554083255	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554083862	T>A	Pathogenic	Coding sequence variant, stop gained
rs1554083888	AAATCTC>TAGTTTTGTA	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1554083898	T>A	Pathogenic	Coding sequence variant, stop gained
rs1554083930	C>A	Pathogenic	Coding sequence variant, stop gained
rs1554083941	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554083981	GGAAGTGCTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554083984	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554083990	CTCATGGCAAATAGGCCTGCGAAGTACAAGGATGCCAATATTATGTCTCCTGGCTCAAGCTTGCCATCTCTTCATGTTAGGAAACAAAAAGCCCTAGAAGCAGAATTAGATGCTCAGCACTTATCAGAAACTTTTGACAATATAGACAATTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554083998	->GCAGCTT	Pathogenic	Coding sequence variant, frameshift variant
rs1554084079	T>-,TT	Pathogenic	Coding sequence variant, stop gained, frameshift variant
rs1554084080	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554084100	->GA	Pathogenic	Coding sequence variant, frameshift variant
rs1554084141	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554084159	GACAATTTTA>CC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554084228	CATCA>G	Pathogenic	Coding sequence variant, stop gained
rs1554084266	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554084299	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554084318	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs1554084375	->GCCA	Pathogenic	Coding sequence variant, frameshift variant
rs1554084389	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554084403	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554084454	AC>GTGT	Pathogenic	Coding sequence variant, frameshift variant
rs1554084508	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554084511	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554084512	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs1554084529	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554084531	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554084541	T>-	Pathogenic	Coding sequence variant, stop gained
rs1554084547	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554084553	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554084575	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554084576	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554084587	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554084592	A>T	Pathogenic	Coding sequence variant, stop gained
rs1554084648	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554084650	ATC>T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554084685	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554084698	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554084712	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554084772	TAATA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554084794	TAAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554084818	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554084848	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs1554084885	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554084921	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554084945	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554085005	TGAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554085029	AAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554085053	ATAAT>-	Pathogenic	Coding sequence variant, stop gained
rs1554085081	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554085084	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554085102	T>A	Pathogenic	Coding sequence variant, stop gained
rs1554085117	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554085128	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554085131	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554085190	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554085227	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554085246	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554085258	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554085303	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554085307	TT>-	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1554085335	CAT>A	Pathogenic	Coding sequence variant, frameshift variant
rs1554085355	T>A	Pathogenic	Coding sequence variant, stop gained
rs1554085373	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554085382	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554085429	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs1554085450	->CT	Pathogenic	Coding sequence variant, frameshift variant
rs1554085479	T>AA	Pathogenic	Coding sequence variant, frameshift variant
rs1554085480	C>G	Pathogenic	Coding sequence variant, stop gained
rs1554085533	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554085560	->GGTC	Pathogenic	Coding sequence variant, frameshift variant
rs1554085654	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554085659	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554085679	C>-,CC	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1554085714	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554085817	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554085825	AAT>GCTGA	Pathogenic	Coding sequence variant, frameshift variant
rs1554085846	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554085850	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554085898	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554085992	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs1554086008	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554086015	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554086030	TGAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554086036	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1554086084	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554086134	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554086138	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554086182	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554086185	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554086196	AGCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554086212	C>G	Pathogenic	Coding sequence variant, stop gained
rs1554086262	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554086285	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554086324	->CT	Pathogenic	Coding sequence variant, frameshift variant
rs1554086327	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554086338	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554086340	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554086363	TTAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554086415	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554086550	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554086653	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554086694	C>G	Pathogenic	Coding sequence variant, stop gained
rs1554086794	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554086805	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554086854	AATAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554086862	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1554086923	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554086935	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1554086974	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554087023	->AA	Pathogenic	Coding sequence variant, frameshift variant
rs1554087036	TTTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554087070	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554087123	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554087174	C>G	Pathogenic	Coding sequence variant, stop gained
rs1554087239	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554087314	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554087379	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554087390	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554087474	A>-	Uncertain-significance, pathogenic	Coding sequence variant, frameshift variant
rs1554087515	TAGA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554087972	A>G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs1554088206	C>G	Pathogenic	Coding sequence variant, stop gained
rs1554088313	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554088359	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554088391	CT>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1554088413	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554088600	->G	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1554088632	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554088726	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554088762	TTAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554088780	CTGCTGTTTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554088793	AACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561444605	->TTTA	Pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant
rs1561444620	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant
rs1561445097	->G	Pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant
rs1561464190	GT>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1561477658	->TCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTCACTAAAAGAATAGATAGTCTTCCTTTAACTGAAAATGTAAGTAACTTGGCAGTACAACTTATTTGAAACTTTAATAACTTGATATTTTAAAGTACCTAGGTAATC	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, splice donor variant, intron variant
rs1561485947	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1561540666	T>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1561542165	C>T	Pathogenic	Coding sequence variant, stop gained
rs1561545780	A>G	Likely-pathogenic	Splice acceptor variant
rs1561545947	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1561553403	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1561553939	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1561555761	A>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1561568510	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561569140	TTGAAAGTGGAGGTGGGATATTACGGAATGTGTCCAGCTTGATAGCTACAAATGAGGACCACAGGTATATATAGAGTTTTATATTACTTTTA>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1561569606	->GT	Likely-pathogenic	Splice donor variant
rs1561574581	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561574860	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1561575998	C>T	Pathogenic	Coding sequence variant, stop gained
rs1561576302	T>G	Pathogenic	Coding sequence variant, stop gained
rs1561576308	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561576666	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561576755	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1561577342	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1561577476	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561578229	C>A	Pathogenic	Coding sequence variant, stop gained
rs1561578684	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1561578889	G>T	Pathogenic	Coding sequence variant, stop gained
rs1561579040	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1561580546	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561581273	ACCCAGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561583917	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561584336	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1561585111	GCATA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561585641	T>G	Pathogenic	Coding sequence variant, stop gained
rs1561586671	->AA	Pathogenic	Coding sequence variant, frameshift variant
rs1561587604	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561588017	->AT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561588104	C>T	Pathogenic	Coding sequence variant, stop gained
rs1561589459	GTTGAATTTT>-,GTTGAATTTTGTTGAATTTT	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, inframe indel, frameshift variant
rs1561590380	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561594148	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561594547	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561598017	GC>A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561599054	TTAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561600715	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561601114	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1561602876	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1561604164	->GCAGCATCTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGG	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1561604514	->TT	Pathogenic	Coding sequence variant, frameshift variant
rs1561605385	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561605508	GA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561606344	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1561610839	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs1561617778	C>G	Pathogenic	Coding sequence variant, stop gained
rs1561618361	CAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561619376	ATTTA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580328099	C>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1580329260	G>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1580358224	A>G	Pathogenic	Intron variant
rs1580358296	TAGGTCATTGCTTCTTGCTGATCTTGACAAAGAAGAA>-	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant, 5 prime UTR variant
rs1580359502	ATAGTCTT>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1580359575	->T	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1580379633	A>G,T	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant, 5 prime UTR variant
rs1580423534	CCAG>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs1580423584	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant, 5 prime UTR variant
rs1580424314	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant, 5 prime UTR variant
rs1580454483	C>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1580454619	->TG	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1580511131	A>G	Likely-pathogenic	Intron variant
rs1580511939	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580511959	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580516055	A>G	Likely-pathogenic	Intron variant
rs1580527839	->A	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1580528776	->T	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1580530177	->T	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1580530928	GCGCTT>A	Pathogenic	Frameshift variant, coding sequence variant
rs1580531483	AACCAGGCATG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580531584	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580541855	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580542168	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580564136	->G	Pathogenic	Splice acceptor variant, coding sequence variant
rs1580565026	TAATGACCACTAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580565841	ACT>GAGATGTAGCCTTTGAGATGTTGGC	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1580568839	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580569295	A>T	Pathogenic	Stop gained, coding sequence variant
rs1580569680	C>T	Pathogenic	Stop gained, coding sequence variant
rs1580573837	A>G	Likely-pathogenic	Splice acceptor variant
rs1580573847	G>A	Pathogenic	Splice acceptor variant
rs1580603007	TAC>AG	Pathogenic	Intron variant
rs1580603163	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580604238	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1580605254	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580616896	TAAGAGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580616970	AAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580617130	->TTTCT	Pathogenic	Frameshift variant, coding sequence variant
rs1580617162	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580617349	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580619588	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580620163	G>T	Pathogenic	Stop gained, coding sequence variant
rs1580620326	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1580620655	TTTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580621917	->TAATAGGTCAGACAATTTTAATACTGGCAACATGACTGTCCTTTCACCATATTTGAATACTACAGTGTTACCCAGCTCCTCTTCATCAAGA	Pathogenic	Stop gained, coding sequence variant
rs1580623468	T>-	Pathogenic	Stop gained, coding sequence variant
rs1580623562	TC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580623656	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580624327	TACCATCCAGCAAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580625495	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580625739	TGT>GTATG	Pathogenic	Frameshift variant, coding sequence variant
rs1580627539	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580628041	->TATG	Pathogenic	Frameshift variant, coding sequence variant
rs1580629061	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1580629755	C>A	Pathogenic	Stop gained, coding sequence variant
rs1580630407	G>T	Pathogenic	Stop gained, coding sequence variant
rs1580630436	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580630481	ACT>TAATTGG	Pathogenic	Frameshift variant, coding sequence variant
rs1580631181	C>T	Pathogenic	Stop gained, coding sequence variant
rs1580631422	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580632210	TGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580632599	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580633219	C>T	Pathogenic	Stop gained, coding sequence variant
rs1580633796	C>G	Pathogenic	Stop gained, coding sequence variant
rs1580634177	AAATC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580634573	TCAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580634617	C>T	Pathogenic	Stop gained, coding sequence variant
rs1580639836	G>T	Pathogenic	Stop gained, coding sequence variant
rs1580640215	->CTT	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, inframe indel
rs1580640350	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1580640872	->TAGGATGTAATCA	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1580640910	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1580641118	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1580641218	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1580641874	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580642648	A>G,T	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1580643026	T>G	Pathogenic	Stop gained, coding sequence variant
rs1580643056	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580644533	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580644987	->T	Pathogenic	Stop gained, coding sequence variant
rs1580645285	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1580645606	G>-	Pathogenic	Stop gained, coding sequence variant
rs1580646270	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580646613	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580646768	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580647642	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580648665	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1580648975	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580649018	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580649145	C>-	Pathogenic	Stop gained, coding sequence variant
rs1580649885	TTCAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580650175	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1580653360	->AC	Pathogenic	Frameshift variant, coding sequence variant
rs1580653770	AGTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580657643	TGAAAAAGATAATG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580662647	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580663714	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580666429	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580667434	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580668673	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580670427	C>G	Pathogenic	Stop gained, coding sequence variant
rs1580671859	TAAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580672507	TTACTGGAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580672887	AAATT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580674179	A>C,T	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1580678722	C>G,T	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1580680919	C>G	Pathogenic	Stop gained, coding sequence variant
rs1580682001	TTCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580682528	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580684327	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580684796	CAATC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1580685528	C>T	Pathogenic	Stop gained, coding sequence variant
rs1580686729	TAAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1580690024	ATCA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1580693467	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1580995904	AT>TAGCAAGGG	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant
rs1581160030	A>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1581160123	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant

193

Show/Hide all (193)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001941	hsa-miR-135a-5p	Luciferase reporter assayqRT-PCR	18632633
MIRT001941	hsa-miR-135a-5p	Luciferase reporter assayqRT-PCR	18632633
MIRT001940	hsa-miR-135b-5p	Luciferase reporter assayqRT-PCR	18632633
MIRT001940	hsa-miR-135b-5p	Luciferase reporter assayqRT-PCR	18632633
MIRT001207	hsa-miR-155-5p	Luciferase reporter assayWestern blot	19136465
MIRT003183	hsa-miR-210-3p	immunoprecipitaionMicroarrayqRT-PCR	19826008
MIRT006221	hsa-miR-27a-3p	Luciferase reporter assayWestern blot	22018270
MIRT006221	hsa-miR-27a-3p	Luciferase reporter assayWestern blot	22018270
MIRT006221	hsa-miR-27a-3p	Luciferase reporter assayWestern blot	22018270
MIRT006221	hsa-miR-27a-3p	Luciferase reporter assayWestern blot	22018270
MIRT006221	hsa-miR-27a-3p	Luciferase reporter assayWestern blot	22018270
MIRT006221	hsa-miR-27a-3p	Luciferase reporter assayWestern blot	22018270
MIRT007071	hsa-miR-106b-5p	FlowImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot	23087084
MIRT007071	hsa-miR-106b-5p	FlowImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot	23087084
MIRT001207	hsa-miR-155-5p	Proteomics	20584899
MIRT024577	hsa-miR-215-5p	Microarray	19074876
MIRT026886	hsa-miR-192-5p	Microarray	19074876
MIRT031054	hsa-miR-21-5p	Microarray	18591254
MIRT048033	hsa-miR-148a-3p	CLASH	23622248
MIRT045069	hsa-miR-186-5p	CLASH	23622248
MIRT053348	hsa-miR-663a	ImmunoblotLuciferase reporter assayMicroarrayqRT-PCRAlizarin red S staining	24642258
MIRT001207	hsa-miR-155-5p	Luciferase reporter assayqRT-PCRWestern blot	23796566
MIRT001207	hsa-miR-155-5p	Luciferase reporter assayqRT-PCRWestern blot	23796566
MIRT001207	hsa-miR-155-5p	Luciferase reporter assayWestern blot	22610915
MIRT001207	hsa-miR-155-5p	Luciferase reporter assayWestern blot	22610915
MIRT006221	hsa-miR-27a-3p	Luciferase reporter assayqRT-PCRWestern blot	24487055
MIRT165080	hsa-miR-142-3p	Luciferase reporter assay	23229013
MIRT165080	hsa-miR-142-3p	Luciferase reporter assay	23229013
MIRT121568	hsa-miR-129-5p	Luciferase reporter assay	24194897
MIRT121568	hsa-miR-129-5p	Luciferase reporter assay	24194897
MIRT438099	hsa-miR-135a-5p	Luciferase reporter assayWestern blot	24850830
MIRT438099	hsa-miR-135a-5p	Luciferase reporter assayWestern blot	24850830
MIRT121568	hsa-miR-129-5p	Luciferase reporter assay	24194897
MIRT121568	hsa-miR-129-5p	Luciferase reporter assay	24194897
MIRT438099	hsa-miR-135a-5p	Luciferase reporter assayWestern blot	24850830
MIRT438099	hsa-miR-135a-5p	Luciferase reporter assayWestern blot	24850830
MIRT165080	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT441214	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT165080	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT441214	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT731847	hsa-miR-106a-5p	Luciferase reporter assayqRT-PCRTOP????sh/FOP????sh reporter assayWestern blot	27815074
MIRT731847	hsa-miR-106a-5p	Luciferase reporter assayqRT-PCRTOP????sh/FOP????sh reporter assayWestern blot	27815074
MIRT001940	hsa-miR-135b-5p	qRT-PCR	26877610
MIRT026886	hsa-miR-192-5p	Luciferase reporter assayWestern blottingqRT-PCR	32091625
MIRT024577	hsa-miR-215-5p	Luciferase reporter assayWestern blottingqRT-PCR	32091625
MIRT788953	hsa-miR-1183	CLIP-seq
MIRT788954	hsa-miR-1206	CLIP-seq
MIRT788955	hsa-miR-1267	CLIP-seq
MIRT788956	hsa-miR-1276	CLIP-seq
MIRT788957	hsa-miR-150	CLIP-seq
MIRT788958	hsa-miR-223	CLIP-seq
MIRT788959	hsa-miR-2278	CLIP-seq
MIRT788960	hsa-miR-3120-3p	CLIP-seq
MIRT788961	hsa-miR-3137	CLIP-seq
MIRT788962	hsa-miR-3161	CLIP-seq
MIRT788963	hsa-miR-335	CLIP-seq
MIRT788964	hsa-miR-3607-5p	CLIP-seq
MIRT788965	hsa-miR-3667-5p	CLIP-seq
MIRT788966	hsa-miR-3672	CLIP-seq
MIRT788967	hsa-miR-3675-3p	CLIP-seq
MIRT788968	hsa-miR-3685	CLIP-seq
MIRT788969	hsa-miR-374a	CLIP-seq
MIRT788970	hsa-miR-374b	CLIP-seq
MIRT788971	hsa-miR-374c	CLIP-seq
MIRT788972	hsa-miR-384	CLIP-seq
MIRT788973	hsa-miR-3973	CLIP-seq
MIRT788974	hsa-miR-410	CLIP-seq
MIRT788975	hsa-miR-4282	CLIP-seq
MIRT788976	hsa-miR-4328	CLIP-seq
MIRT788977	hsa-miR-4477a	CLIP-seq
MIRT788978	hsa-miR-4501	CLIP-seq
MIRT788979	hsa-miR-4652-3p	CLIP-seq
MIRT788980	hsa-miR-4699-3p	CLIP-seq
MIRT788981	hsa-miR-4729	CLIP-seq
MIRT788982	hsa-miR-4760-3p	CLIP-seq
MIRT788983	hsa-miR-501-3p	CLIP-seq
MIRT788984	hsa-miR-502-3p	CLIP-seq
MIRT788985	hsa-miR-515-3p	CLIP-seq
MIRT788986	hsa-miR-519e	CLIP-seq
MIRT788987	hsa-miR-520d-5p	CLIP-seq
MIRT788988	hsa-miR-524-5p	CLIP-seq
MIRT788989	hsa-miR-548l	CLIP-seq
MIRT788990	hsa-miR-556-3p	CLIP-seq
MIRT788991	hsa-miR-579	CLIP-seq
MIRT788992	hsa-miR-583	CLIP-seq
MIRT788993	hsa-miR-655	CLIP-seq
MIRT788994	hsa-miR-944	CLIP-seq
MIRT739610	hsa-miR-2053	CLIP-seq
MIRT739609	hsa-miR-3682-5p	CLIP-seq
MIRT739608	hsa-miR-4766-5p	CLIP-seq
MIRT739611	hsa-miR-569	CLIP-seq
MIRT788955	hsa-miR-1267	CLIP-seq
MIRT788995	hsa-miR-1298	CLIP-seq
MIRT788996	hsa-miR-300	CLIP-seq
MIRT788997	hsa-miR-3065-5p	CLIP-seq
MIRT788998	hsa-miR-3074-3p	CLIP-seq
MIRT788960	hsa-miR-3120-3p	CLIP-seq
MIRT788962	hsa-miR-3161	CLIP-seq
MIRT788966	hsa-miR-3672	CLIP-seq
MIRT788969	hsa-miR-374a	CLIP-seq
MIRT788970	hsa-miR-374b	CLIP-seq
MIRT788999	hsa-miR-381	CLIP-seq
MIRT789000	hsa-miR-3942-5p	CLIP-seq
MIRT788976	hsa-miR-4328	CLIP-seq
MIRT788979	hsa-miR-4652-3p	CLIP-seq
MIRT789001	hsa-miR-4666-3p	CLIP-seq
MIRT789002	hsa-miR-4703-5p	CLIP-seq
MIRT1932742	hsa-miR-103b	CLIP-seq
MIRT788954	hsa-miR-1206	CLIP-seq
MIRT1932743	hsa-miR-1279	CLIP-seq
MIRT1932744	hsa-miR-132	CLIP-seq
MIRT1932745	hsa-miR-135a	CLIP-seq
MIRT1932746	hsa-miR-135b	CLIP-seq
MIRT739610	hsa-miR-2053	CLIP-seq
MIRT1932747	hsa-miR-208a	CLIP-seq
MIRT1932748	hsa-miR-208b	CLIP-seq
MIRT1932749	hsa-miR-2115	CLIP-seq
MIRT1932750	hsa-miR-212	CLIP-seq
MIRT788958	hsa-miR-223	CLIP-seq
MIRT1932751	hsa-miR-27a	CLIP-seq
MIRT1932752	hsa-miR-27b	CLIP-seq
MIRT788996	hsa-miR-300	CLIP-seq
MIRT788997	hsa-miR-3065-5p	CLIP-seq
MIRT788998	hsa-miR-3074-3p	CLIP-seq
MIRT788960	hsa-miR-3120-3p	CLIP-seq
MIRT788961	hsa-miR-3137	CLIP-seq
MIRT788962	hsa-miR-3161	CLIP-seq
MIRT1932753	hsa-miR-3180-5p	CLIP-seq
MIRT1932754	hsa-miR-330-3p	CLIP-seq
MIRT1932755	hsa-miR-3617	CLIP-seq
MIRT1932756	hsa-miR-3658	CLIP-seq
MIRT1932757	hsa-miR-3671	CLIP-seq
MIRT788969	hsa-miR-374a	CLIP-seq
MIRT788970	hsa-miR-374b	CLIP-seq
MIRT788999	hsa-miR-381	CLIP-seq
MIRT789000	hsa-miR-3942-5p	CLIP-seq
MIRT788973	hsa-miR-3973	CLIP-seq
MIRT1932758	hsa-miR-4255	CLIP-seq
MIRT788976	hsa-miR-4328	CLIP-seq
MIRT1932759	hsa-miR-4505	CLIP-seq
MIRT1932760	hsa-miR-4528	CLIP-seq
MIRT789001	hsa-miR-4666-3p	CLIP-seq
MIRT1932761	hsa-miR-4690-5p	CLIP-seq
MIRT788980	hsa-miR-4699-3p	CLIP-seq
MIRT789002	hsa-miR-4703-5p	CLIP-seq
MIRT788982	hsa-miR-4760-3p	CLIP-seq
MIRT739608	hsa-miR-4766-5p	CLIP-seq
MIRT1932762	hsa-miR-487a	CLIP-seq
MIRT1932763	hsa-miR-499-5p	CLIP-seq
MIRT1932764	hsa-miR-513a-5p	CLIP-seq
MIRT1932765	hsa-miR-520a-5p	CLIP-seq
MIRT1932766	hsa-miR-525-5p	CLIP-seq
MIRT1932767	hsa-miR-548ac	CLIP-seq
MIRT1932768	hsa-miR-548c-3p	CLIP-seq
MIRT1932769	hsa-miR-548d-3p	CLIP-seq
MIRT788989	hsa-miR-548l	CLIP-seq
MIRT1932770	hsa-miR-548z	CLIP-seq
MIRT1932771	hsa-miR-555	CLIP-seq
MIRT739611	hsa-miR-569	CLIP-seq
MIRT1932772	hsa-miR-641	CLIP-seq
MIRT788976	hsa-miR-4328	CLIP-seq
MIRT788954	hsa-miR-1206	CLIP-seq
MIRT1932751	hsa-miR-27a	CLIP-seq
MIRT1932752	hsa-miR-27b	CLIP-seq
MIRT789000	hsa-miR-3942-5p	CLIP-seq
MIRT2172965	hsa-miR-4670-3p	CLIP-seq
MIRT2172966	hsa-miR-4691-3p	CLIP-seq
MIRT789002	hsa-miR-4703-5p	CLIP-seq
MIRT1932764	hsa-miR-513a-5p	CLIP-seq
MIRT1932768	hsa-miR-548c-3p	CLIP-seq
MIRT2172967	hsa-miR-619	CLIP-seq
MIRT739610	hsa-miR-2053	CLIP-seq
MIRT739609	hsa-miR-3682-5p	CLIP-seq
MIRT739608	hsa-miR-4766-5p	CLIP-seq
MIRT739611	hsa-miR-569	CLIP-seq
MIRT2476148	hsa-miR-124	CLIP-seq
MIRT2476149	hsa-miR-1305	CLIP-seq
MIRT2476150	hsa-miR-3132	CLIP-seq
MIRT738007	hsa-miR-3189-5p	CLIP-seq
MIRT738010	hsa-miR-3200-5p	CLIP-seq
MIRT738008	hsa-miR-371b-3p	CLIP-seq
MIRT2476151	hsa-miR-3922-5p	CLIP-seq
MIRT2476152	hsa-miR-3935	CLIP-seq
MIRT2476153	hsa-miR-3936	CLIP-seq
MIRT738009	hsa-miR-4682	CLIP-seq
MIRT2476154	hsa-miR-4733-3p	CLIP-seq
MIRT738006	hsa-miR-4758-3p	CLIP-seq
MIRT738011	hsa-miR-483-3p	CLIP-seq
MIRT2476155	hsa-miR-498	CLIP-seq
MIRT2476156	hsa-miR-506	CLIP-seq
MIRT2476157	hsa-miR-577	CLIP-seq
MIRT2476158	hsa-miR-606	CLIP-seq
MIRT738012	hsa-miR-630	CLIP-seq

Show/Hide all (7)

Transcription factor	Regulation	Reference
CDX2	Activation	23393221
CDX2	Unknown	24501326
CEBPZ	Activation	15087381
EZH2	Repression	22907428
USF1	Activation	11241666
USF2	Activation	11241666
YY1	Repression	22907428

102

Show/Hide all (102)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	IMP	17570218
GO:0000776	Component	Kinetochore	IDA	11283619
GO:0001708	Process	Cell fate specification	IBA
GO:0003170	Process	Heart valve development	ISS
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0005515	Function	Protein binding	IPI	8638125, 8638126, 9601641, 9707618, 10811618, 10947987, 11283619, 11389840, 11425858, 11943150, 11972058, 15161933, 15327768, 15327769, 16212417, 16293619, 16611247, 16753179, 17145773, 17218255, 17318191, 17510365, 17588722, 17599059, 17925383, 18281465, 18502210, 19131971, 1963218
GO:0005634	Component	Nucleus	IDA	11035805, 12072559, 12955080
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	11035805, 12955080, 20937854
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005813	Component	Centrosome	IDA	11283619
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IDA	28057765
GO:0005874	Component	Microtubule	IEA
GO:0005881	Component	Cytoplasmic microtubule	IBA
GO:0005886	Component	Plasma membrane	IDA	16611247
GO:0005886	Component	Plasma membrane	IDA	20937854
GO:0005886	Component	Plasma membrane	IEA
GO:0005912	Component	Adherens junction	IDA	16611247
GO:0005912	Component	Adherens junction	IEA
GO:0005923	Component	Bicellular tight junction	IDA	18502210
GO:0006974	Process	DNA damage response	IDA	14728717
GO:0007026	Process	Negative regulation of microtubule depolymerization	IBA
GO:0007026	Process	Negative regulation of microtubule depolymerization	IDA	11166179
GO:0007026	Process	Negative regulation of microtubule depolymerization	IMP	17192415
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IMP	17227893
GO:0007155	Process	Cell adhesion	NAS	8259518
GO:0007389	Process	Pattern specification process	IBA
GO:0007399	Process	Nervous system development	IBA
GO:0008013	Function	Beta-catenin binding	EXP	15327768
GO:0008013	Function	Beta-catenin binding	IBA
GO:0008013	Function	Beta-catenin binding	IDA	7806582
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008013	Function	Beta-catenin binding	IPI	7890674, 9707618, 10773885, 11533658, 15327768, 16753179
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IDA	11166179, 16188939
GO:0008017	Function	Microtubule binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	8521819
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008286	Process	Insulin receptor signaling pathway	IMP	28057765
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016328	Component	Lateral plasma membrane	IDA	12072559
GO:0016342	Component	Catenin complex	IBA
GO:0016342	Component	Catenin complex	IDA	7806582
GO:0016342	Component	Catenin complex	IEA
GO:0016477	Process	Cell migration	IBA
GO:0016477	Process	Cell migration	IMP	19151759
GO:0019887	Function	Protein kinase regulator activity	IDA	11972058
GO:0019901	Function	Protein kinase binding	IDA	24130866
GO:0019901	Function	Protein kinase binding	IPI	8638126
GO:0030027	Component	Lamellipodium	IDA	19151759
GO:0030027	Component	Lamellipodium	IEA
GO:0030054	Component	Cell junction	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0030335	Process	Positive regulation of cell migration	IMP	17192415
GO:0030877	Component	Beta-catenin destruction complex	IBA
GO:0030877	Component	Beta-catenin destruction complex	IDA	8638126, 9601641, 16188939
GO:0030877	Component	Beta-catenin destruction complex	NAS	9601641
GO:0031256	Component	Leading edge membrane	IEA
GO:0031274	Process	Positive regulation of pseudopodium assembly	IMP	17192415
GO:0031625	Function	Ubiquitin protein ligase binding	IDA	18076571
GO:0032587	Component	Ruffle membrane	IDA	19151759
GO:0032587	Component	Ruffle membrane	IEA
GO:0032886	Process	Regulation of microtubule-based process	IMP	20937854
GO:0042995	Component	Cell projection	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IMP	17227893
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	9601641
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045295	Function	Gamma-catenin binding	IBA
GO:0045295	Function	Gamma-catenin binding	IPI	7890674
GO:0045296	Function	Cadherin binding	IDA	7890674
GO:0045732	Process	Positive regulation of protein catabolic process	IC	16188939
GO:0045732	Process	Positive regulation of protein catabolic process	IGI	12952940
GO:0045736	Process	Negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	8521819
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	18076571
GO:0051010	Function	Microtubule plus-end binding	IDA	19632184
GO:0051988	Process	Regulation of attachment of spindle microtubules to kinetochore	IMP	17227893
GO:0051988	Process	Regulation of attachment of spindle microtubules to kinetochore	NAS	11283619
GO:0060632	Process	Regulation of microtubule-based movement	IEP	28057765
GO:0065003	Process	Protein-containing complex assembly	IDA	16188939
GO:0070161	Component	Anchoring junction	IEA
GO:0070830	Process	Bicellular tight junction assembly	NAS	18502210
GO:0070840	Function	Dynein complex binding	IPI	28057765
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IBA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IC	9601641
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IGI	12952940
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IGI	21471006
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	10656683, 30374053
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	NAS	16344550
GO:0120025	Component	Plasma membrane bounded cell projection	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	26948948
GO:1902807	Process	Negative regulation of cell cycle G1/S phase transition	IDA	8521819
GO:1904781	Process	Positive regulation of protein localization to centrosome	IMP	28057765
GO:1990909	Component	Wnt signalosome	NAS	24115276
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IMP	10656683

MIM	HGNC	e!Ensembl
611731	583	ENSG00000134982

P25054

Protein name

Adenomatous polyposis coli protein (Protein APC) (Deleted in polyposis 2.5)

Protein function

Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and ARHGEF4. Plays a role in hepat

PDB

1DEB , 1EMU , 1JPP , 1M5I , 1T08 , 1TH1 , 1V18 , 2RQU , 3AU3 , 3NMW , 3NMX , 3NMZ , 3QHE , 3RL7 , 3RL8 , 3T7U , 4G69 , 4YJE , 4YJL , 4YK6 , 5B6G , 5IZ6 , 5IZ8 , 5IZ9 , 5IZA , 5Z8H , 7F6M , 7F7O , 7XTY , 8GSJ , 8X2Q

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16689	APC_N_CC	4 → 55	Coiled-coil N-terminus of APC, dimerisation domain	Coiled-coil
PF11414	Suppressor_APC	127 → 207		Family
PF18797	APC_rep	393 → 466	Adenomatous polyposis coli (APC) repeat	Repeat
PF00514	Arm	512 → 553	Armadillo/beta-catenin-like repeat	Repeat
PF00514	Arm	649 → 689	Armadillo/beta-catenin-like repeat	Repeat
PF16629	Arm_APC_u3	732 → 1019		Disordered
PF05972	APC_15aa	1020 → 1034	APC 15 residue motif	Motif
PF16630	APC_u5	1036 → 1135		Disordered
PF05972	APC_15aa	1136 → 1150	APC 15 residue motif	Motif
PF05972	APC_15aa	1155 → 1169	APC 15 residue motif	Motif
PF05972	APC_15aa	1172 → 1186	APC 15 residue motif	Motif
PF05923	APC_r	1257 → 1280	APC repeat	Motif
PF16633	APC_u9	1282 → 1368		Disordered
PF05923	APC_r	1371 → 1393	APC repeat	Motif
PF05923	APC_r	1486 → 1509	APC repeat	Motif
PF05924	SAMP	1567 → 1588	SAMP Motif	Motif
PF05923	APC_r	1637 → 1660	APC repeat	Motif
PF16634	APC_u13	1662 → 1715		Disordered
PF05924	SAMP	1716 → 1737	SAMP Motif	Motif
PF16635	APC_u14	1746 → 1839		Disordered
PF05923	APC_r	1841 → 1865	APC repeat	Motif
PF16636	APC_u15	1867 → 1947		Disordered
PF05923	APC_r	1949 → 1972	APC repeat	Motif
PF05923	APC_r	2008 → 2030	APC repeat	Motif
PF05924	SAMP	2031 → 2052	SAMP Motif	Motif
PF05956	APC_basic	2223 → 2575	APC basic domain	Family
PF05937	EB1_binding	2670 → 2843	EB-1 Binding Domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in a variety of tissues: brain, small intestine, colon, thymus, skeletal muscle, heart, prostate, lung, spleen, ovary, testis kidney, placenta, blood and liver (PubMed:21643010, PubMed:27217144). Isoform 1A: Very strongly exp

Sequence

MAAASYDQLLKQVEALKMENSNLRQELEDNSNHLTKLETEASNMKEVLKQLQGSIEDEAM
ASSGQIDLLERLKELNLDSSNFPGVKLRSKMSLRSYGSREGSVSSRSGECSPVPMGSFPR
RGFVNGSRESTGYLEELEKERSLLLADLDKEEKEKDWYYAQLQNLTKRIDSLPLTENFSL
QTDMTRRQLEYEARQIRVAMEEQLGTCQDMEKRAQRRIARIQQIEKDILRIRQLLQSQAT
EAERSSQNKHETGSHDAERQNEGQGVGEINMATSGNGQGSTTRMDHETASVLSSSSTHSA
PRRLTSHLGTKVEMVYSLLSMLGTHDKDDMSRTLLAMSSSQDSCISMRQSGCLPLLIQLL
HGNDKDSVLLGNSRGSKEARARASAALHNIIHSQPDDKRGRREIRVLHLLEQIRAYCETC
WEWQEAHEPGMDQDKNPMPAPVEHQICPAVCVLMKLSFDEEHRHAMNELGGLQAIAELLQ
VDCEMYGLTNDHYSITLRRYAGMALTNLTFGDVANKATLCSMKGCMRALVAQLKSESEDL
QQVIASVLRNLSWRADVNSKKTLREVGSVKALMECALEVKKESTLKSVLSALWNLSAHCT
ENKADICAVDGALAFLVGTLTYRSQTNTLAIIESGGGILRNVSSLIATNEDHRQILRENN
CLQTLLQHLKSHSLTIVSNACGTLWNLSARNPKDQEALWDMGAVSMLKNLIHSKHKMIAM
GSAAALRNLMANRPAKYKDANIMSPGSSLPSLHVRKQKALEAELDAQHLSETFDNIDNLS
PKASHRSKQRHKQSLYGDYVFDTNRHDDNRSDNFNTGNMTVLSPYLNTTVLPSSSSSRGS
LDSSRSEKDRSLERERGIGLGNYHPATENPGTSSKRGLQISTTAAQIAKVMEEVSAIHTS
QEDRSSGSTTELHCVTDERNALRRSSAAHTHSNTYNFTKSENSNRTCSMPYAKLEYKRSS
NDSLNSVSSSDGYGKRGQMKPSIESYSEDDESKFCSYGQYPADLAHKIHSANHMDDNDGE
LDTPINYSLKYSDEQLNSGRQSPSQNERWARPKHIIEDEIKQSEQRQSRNQSTTYPVYTE
STDDKHLKFQPHFGQQECVSPYRSRGANGSETNRVGSNHGINQNVSQSLCQEDDYEDDKP
TNYSERYSEEEQHEEEERPTNYSIKYNEEKRHVDQPIDYSLKYATDIPSSQKQSFSFSKS
SSGQSSKTEHMSSSSENTSTPSSNAKRQNQLHPSSAQSRSGQPQKAATCKVSSINQETIQ
TYCVEDTPICFSRCSSLSSLSSAEDEIGCNQTTQEADSANTLQIAEIKEKIGTRSAEDPV
SEVPAVSQHPRTKSSRLQGSSLSSESARHKAVEFSSGAKSPSKSGAQTPKSPPEHYVQET
PLMFSRCTSVSSLDSFESRSIASSVQSEPCSGMVSGIISPSDLPDSPGQTMPPSRSKTPP
PPPQTAQTKREVPKNKAPTAEKRESGPKQAAVNAAVQRVQVLPDADTLLHFATESTPDGF
SCSSSLSALSLDEPFIQKDVELRIMPPVQENDNGNETESEQPKESNENQEKEAEKTIDSE
KDLLDDSDDDDIEILEECIISAMPTKSSRKAKKPAQTASKLPPPVARKPSQLPVYKLLPS
QNRLQPQKHVSFTPGDDMPRVYCVEGTPINFSTATSLSDLTIESPPNELAAGEGVRGGAQ
SGEFEKRDTIPTEGRSTDEAQGGKTSSVTIPELDDNKAEEGDILAECINSAMPKGKSHKP
FRVKKIMDQVQQASASSSAPNKNQLDGKKKKPTSPVKPIPQNTEYRTRVRKNADSKNNLN
AERVFSDNKDSKKQNLKNNSKVFNDKLPNNEDRVRGSFAFDSPHHYTPIEGTPYCFSRND
SLSSLDFDDDDVDLSREKAELRKAKENKESEAKVTSHTELTSNQQSANKTQAIAKQPINR
GQPKPILQKQSTFPQSSKDIPDRGAATDEKLQNFAIENTPVCFSHNSSLSSLSDIDQENN
NKENEPIKETEPPDSQGEPSKPQASGYAPKSFHVEDTPVCFSRNSSLSSLSIDSEDDLLQ
ECISSAMPKKKKPSRLKGDNEKHSPRNMGGILGEDLTLDLKDIQRPDSEHGLSPDSENFD
WKAIQEGANSIVSSLHQAAAAACLSRQASSDSDSILSLKSGISLGSPFHLTPDQEEKPFT
SNKGPRILKPGEKSTLETKKIESESKGIKGGKKVYKSLITGKVRSNSEISGQMKQPLQAN
MPSISRGRTMIHIPGVRNSSSSTSPVSKKGPPLKTPASKSPSEGQTATTSPRGAKPSVKS
ELSPVARQTSQIGGSSKAPSRSGSRDSTPSRPAQQPLSRPIQSPGRNSISPGRNGISPPN
KLSQLPRTSSPSTASTKSSGSGKMSYTSPGRQMSQQNLTKQTGLSKNASSIPRSESASKG
LNQMNNGNGANKKVELSRMSSTKSSGSESDRSERPVLVRQSTFIKEAPSPTLRRKLEESA
SFESLSPSSRPASPTRSQAQTPVLSPSLPDMSLSTHSSVQAGGWRKLPPNLSPTIEYNDG
RPAKRHDIARSHSESPSRLPINRSGTWKREHSKHSSSLPRVSTWRRTGSSSSILSASSES
SEKAKSEDEKHVNSISGTKQSKENQVSAKGTWRKIKENEFSPTNSTSQTVSSGATNGAES
KTLIYQMAPAVSKTEDVWVRIEDCPINNPRSGRSPTGNTPPVIDSVSEKANPNIKDSKDN
QAKQNVGNGSVPMRTVGLENRLNSFIQVDAPDQKGTEIKPGQNNPVPVSETNESSIVERT
PFSSSSSSKHSSPSGTVAARVTPFNYNPSPRKSSADSTSARPSQIPTPVNNNTKKRDSKT
DSTESSGTQSPKRHSGSYLVTSV

Sequence length

2843

Interactions

View interactions

	KEGG		Reactome
	Wnt signaling pathway Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells Regulation of actin cytoskeleton Cushing syndrome Alzheimer disease Pathways of neurodegeneration - multiple diseases Human papillomavirus infection Pathways in cancer MicroRNAs in cancer Colorectal cancer Endometrial cancer Basal cell carcinoma Breast cancer Hepatocellular carcinoma Gastric cancer		Apoptotic cleavage of cellular proteins Degradation of beta-catenin by the destruction complex Beta-catenin phosphorylation cascade Deactivation of the beta-catenin transactivating complex Disassembly of the destruction complex and recruitment of AXIN to the membrane Misspliced GSK3beta mutants stabilize beta-catenin S33 mutants of beta-catenin aren't phosphorylated S37 mutants of beta-catenin aren't phosphorylated S45 mutants of beta-catenin aren't phosphorylated T41 mutants of beta-catenin aren't phosphorylated APC truncation mutants are not K63 polyubiquitinated APC truncation mutants have impaired AXIN binding AXIN missense mutants destabilize the destruction complex Truncations of AMER1 destabilize the destruction complex Ovarian tumor domain proteases

27625

Show/Hide Causal Diseases (40)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Adenomatous colonic polyposis	Pathogenic	rs121913224, rs1057518901	RCV000626570 RCV000415316
ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA	Pathogenic	rs121913224	RCV000000858
APC associated polyposis	Pathogenic	rs62619935	RCV006436434
APC-Associated Polyposis Disorders	Pathogenic	rs137854580, rs121913332, rs1554080106, rs1554074772	RCV003483421 RCV001824661 RCV005420208 RCV003330781
APC-related attenuated familial adenomatous polyposis	Pathogenic	rs587779783, rs876658846	RCV001824606 RCV004992098
APC-related disorder	Pathogenic; Likely pathogenic	rs587779780, rs587779783, rs1766600757, rs587781330, rs121913224, rs2533570013, rs730882135, rs1434813233, rs2533044885, rs863225311, rs863225347, rs761458613, rs2533657639, rs2149916320, rs863225310 View all (9 more)	RCV003925108 RCV003935094 RCV003418249 RCV003925272 RCV004739276 RCV003408241 RCV003975229 RCV003973390 RCV003403828 RCV003422107 RCV003982949 RCV003401162 RCV004723274 RCV003404188 RCV003416874 RCV004740244 RCV003962330 RCV004722817 RCV003403363 RCV004723181 RCV004726788 RCV003405401 RCV003894926 RCV003415842
Atypical endometrial hyperplasia	Pathogenic	rs863225357	RCV003327380
BRAIN TUMOR-POLYPOSIS SYNDROME 2	Pathogenic	rs137854572, rs137854577	RCV000000844 RCV000000854
Carcinoma of colon	Pathogenic; Likely pathogenic	rs2149682237, rs2149784543, rs1554069573, rs2149614206, rs2149614301, rs2149640346, rs2149780373, rs2149783399, rs2149808371, rs2149840729, rs2149870772, rs2149879574, rs2149880355, rs2149882615, rs863225337 View all (78 more)	RCV001357810 RCV001356387 RCV001355324 RCV001356837 RCV001356566 RCV001358508 RCV001357085 RCV001355864 RCV001356307 RCV001355667 RCV001357757 RCV001354704 RCV001357563 RCV001357951 RCV001358423 RCV001357900 RCV001358255 RCV000763536 RCV000763535 RCV000502854 RCV000503701 RCV001353612 RCV000000838 RCV000503851 RCV000763541 RCV000763542 RCV000502554 RCV000500484 RCV000677779 RCV001353679 RCV000500538 RCV000763538 RCV000501209 RCV001356072 RCV000500904 RCV001354196 RCV000500343 RCV001356258 RCV000501460 RCV000763539 RCV000504287 RCV000501512 RCV000502529 RCV000500122 RCV001355311 RCV000500203 RCV001353812 RCV000501897 RCV000503571 RCV000502897 RCV000503003 RCV000501734 RCV000503404 RCV001354779 RCV000503747 RCV000500725 RCV000502700 RCV000500710 RCV000501918 RCV000503428 RCV000500692 RCV000503185 RCV000502717 RCV000503760 RCV000504016 RCV000503133 RCV000504522 RCV000501164 RCV000504229 RCV000502326 RCV000500648 RCV000503388 RCV000500319 RCV000503832 RCV000504269 RCV000504093 RCV000503045 RCV000501415 RCV000500243 RCV000500372 RCV000502705 RCV000503626 RCV000501685 RCV000499864 RCV000501056 RCV000501161 RCV001356878 RCV001354472 RCV000763537 RCV000763543 RCV001355161 RCV001353466 RCV000501023 RCV000501536
Cervical cancer	Likely pathogenic; Pathogenic	rs761458613	RCV005895181
Classic or attenuated familial adenomatous polyposis	Likely pathogenic; Pathogenic	rs863225313, rs587779783, rs587779803, rs62619935, rs1766600757, rs2149959261, rs587781451, rs587781694, rs587782557, rs137854568, rs137854574, rs121913224, rs587783033, rs730881273, rs1290023611 View all (46 more)	RCV004803677 RCV003997211 RCV003997225 RCV003997226 RCV004010984 RCV005361870 RCV003997496 RCV003997533 RCV003998116 RCV003996069 RCV003996071 RCV003996072 RCV003998158 RCV003998428 RCV004005708 RCV003995243 RCV004806149 RCV004808437 RCV004007750 RCV003997041 RCV005361254 RCV005365162 RCV004804940 RCV004009626 RCV005365216 RCV005361469 RCV005361470 RCV005361471 RCV005365199 RCV005365215 RCV005361476 RCV004808479 RCV005356405 RCV004009749 RCV005624222 RCV004009750 RCV004009751 RCV005356406 RCV005356408 RCV004009753 RCV004011497 RCV004011594 RCV004011846 RCV004017038 RCV004804990 RCV004802020 RCV005365351 RCV004003450 RCV004802099 RCV004003511 RCV004001187 RCV004002383 RCV005357873 RCV005357899 RCV005357912 RCV005359591 RCV004001649 RCV004807252 RCV005359785 RCV004010735 RCV003997058 RCV004004896
Colon adenocarcinoma	Pathogenic; Likely pathogenic	rs137854573, rs121913224, rs570514864, rs1114167569, rs1554085246, rs1211642532, rs397515734	RCV005887147 RCV000677780 RCV005931158 RCV005899749 RCV006254078 RCV005901168 RCV006253727
Colonic neoplasm	Pathogenic	rs1060503333	RCV001643225
Colorectal cancer	Pathogenic; Likely pathogenic	rs2149866222, rs2149877627, rs2149792567, rs587782518, rs121913224, rs786202351, rs1756477033, rs2149712600, rs2149841625, rs2149914657, rs730881273, rs786201856, rs863225310, rs2533450703, rs976449430 View all (10 more)	RCV006250184 RCV001449975 RCV001527482 RCV006250167 RCV001199306 RCV002248970 RCV002249248 RCV002249249 RCV002249250 RCV002249251 RCV001262202 RCV004813067 RCV005893615 RCV006250190 RCV005927132 RCV003484463 RCV004813091 RCV006250172 RCV005603621 RCV005899748 RCV004813119 RCV006250182 RCV001262201 RCV001293811 RCV001293810
Colorectal cancer, susceptibility to	Likely pathogenic; Pathogenic	rs137854568, rs137854573, rs137854575, rs387906234, rs869312753	RCV000210154 RCV000210172 RCV000210151 RCV000210178 RCV000210089
Craniopharyngioma	Pathogenic	rs587779352	RCV000722012
Desmoid disease, hereditary	Likely pathogenic; Pathogenic	rs2149808371, rs587779783, rs62619935, rs2149908617, rs587781392, rs137854573, rs137854575, rs786201856, rs863225311, rs864622228, rs876660765, rs1554080698, rs397515734, rs1554085355, rs1765495276	RCV005361559 RCV001292808 RCV000763536 RCV005361869 RCV000763535 RCV000763541 RCV000763542 RCV000763538 RCV000763540 RCV000000861 RCV000763539 RCV005367356 RCV000763537 RCV000763543 RCV001292791
Desmoid tumor	Likely pathogenic; Pathogenic	rs398123122	RCV000722013
Duodenal polyposis	Pathogenic	rs121913224	RCV000626570
Familial adenomatous polyposis 1	Likely pathogenic; Pathogenic	rs1762431806, rs2149787552, rs2149614206, rs2149614716, rs2149762397, rs2149808371, rs2149818599, rs2149879574, rs2149880355, rs2149888223, rs2149891392, rs2149907906, rs1554086001, rs2149928153, rs2149949090 View all (1722 more)	RCV004562993 RCV001358256 RCV003771044 RCV001354880 RCV003337366 RCV005094477 RCV001354156 RCV005094469 RCV003771046 RCV001357052 RCV001355298 RCV004563075 RCV004563074 RCV001356080 RCV001354809 RCV003771225 RCV003771226 RCV003771229 RCV004563852 RCV003771264 RCV002550275 RCV003771253 RCV003771248 RCV002551538 RCV003771231 RCV003771252 RCV003771246 RCV003771240 RCV003771263 RCV003771241 RCV003771249 RCV003771250 RCV002551570 RCV004563890 RCV004563875 RCV003771268 RCV004563874 RCV004563870 RCV003771265 RCV002550272 RCV002550265 RCV003337367 RCV003337368 RCV003771256 RCV004563883 RCV002551537 RCV003771254 RCV004563892 RCV004563864 RCV004563893 RCV004563876 RCV003771266 RCV004570958 RCV004563894 RCV003771262 RCV003771261 RCV003771255 RCV002550262 RCV004563872 RCV004563865 RCV004563866 RCV004563895 RCV002551573 RCV004563882 RCV003771244 RCV002551572 RCV003771238 RCV002550970 RCV003771243 RCV004563867 RCV004563899 RCV004563891 RCV003771251 RCV003771267 RCV004563898 RCV003771247 RCV004563885 RCV003771232 RCV004563886 RCV004563896 RCV003771230 RCV003771234 RCV002551564 RCV005094655 RCV002564249 RCV004564017 RCV001580136 RCV002539747 RCV001726722 RCV004564715 RCV002541343 RCV004564716 RCV004564721 RCV004564725 RCV000234357 RCV001824606 RCV003764809 RCV004562257 RCV004562260 RCV003337233 RCV004562264 RCV000763536 RCV001823513 RCV001849577 RCV001843389 RCV001843600 RCV001843601 RCV004564728 RCV001843939 RCV001845059 RCV003772831 RCV003337379 RCV003337380 RCV003772578 RCV004564750 RCV004571595 RCV004571514 RCV003772799 RCV002571201 RCV002562185 RCV003772606 RCV003772734 RCV003772472 RCV003773489 RCV003337376 RCV002556380 RCV003772805 RCV003772517 RCV004564886 RCV004564888 RCV003772941 RCV003772942 RCV003772676 RCV004564777 RCV003337377 RCV003772674 RCV004571534 RCV003337378 RCV003772862 RCV004571638 RCV004571726 RCV003772946 RCV003772679 RCV003471101 RCV004571681 RCV004564870 RCV004571642 RCV003772953 RCV004571492 RCV003772689 RCV003337373 RCV002553643 RCV004564785 RCV003336453 RCV004564874 RCV003772571 RCV002564397 RCV004565141 RCV002569150 RCV004565142 RCV004571750 RCV003772559 RCV003772698 RCV003773331 RCV003772838 RCV003772709 RCV004564882 RCV004564883 RCV004564884 RCV002564372 RCV002563620 RCV004571702 RCV003772615 RCV002568517 RCV004564887 RCV003772939 RCV003772931 RCV003772932 RCV003772936 RCV003772937 RCV003772938 RCV003773147 RCV004564853 RCV004571662 RCV002554256 RCV002560465 RCV004564885 RCV003337384 RCV004571705 RCV004571724 RCV004564760 RCV004571465 RCV004564801 RCV003772854 RCV003772943 RCV004564889 RCV003772944 RCV004564761 RCV003772759 RCV003772948 RCV005361869 RCV002564377 RCV004564898 RCV004564899 RCV003772949 RCV004564900 RCV004571472 RCV003772758 RCV004564894 RCV003773029 RCV003336504 RCV004571725 RCV003336493 RCV004571744 RCV002564391 RCV004565135 RCV004565136 RCV002564393 RCV004565137 RCV003772954 RCV003772955 RCV003772646 RCV004564806 RCV002547988 RCV004564775 RCV003337388 RCV003772956 RCV004571910 RCV003772447 RCV003772650 RCV002557789 RCV002564396 RCV004564810 RCV003772884 RCV004571660 RCV003773082 RCV004564834 RCV002514709 RCV000763535 RCV002514717 RCV004571436 RCV003772471 RCV000552842 RCV004562290 RCV002553451 RCV004562292 RCV000686573 RCV004562299 RCV001290141 RCV004562301 RCV000144571 RCV000000829 RCV000000831 RCV000000832 RCV000000834 RCV004562179 RCV004562180 RCV000168134 RCV004562181 RCV000000841 RCV000000842 RCV000000843 RCV000000845 RCV000000846 RCV000000847 RCV000000848 RCV003989278 RCV004562182 RCV000000852 RCV000000853 RCV000000856 RCV000000862 RCV000000863 RCV002512626 RCV000204796 RCV000000868 RCV000000869 RCV000000871 RCV000000874 RCV001310095 RCV000000878 RCV000000879 RCV003335009 RCV000144563 RCV000144565 RCV000144566 RCV000144569 RCV000144573 RCV004565247 RCV004565248 RCV004565249 RCV004565250 RCV003337391 RCV003337392 RCV002266124 RCV002266552 RCV003337393 RCV002288262 RCV004572124 RCV002289492 RCV002290180 RCV002292404 RCV005096306 RCV004565269 RCV003336537 RCV004565278 RCV000157585 RCV005096517 RCV004565280 RCV004565263 RCV003336524 RCV004565273 RCV004565282 RCV003336520 RCV003337394 RCV003464450 RCV003337396 RCV004565268 RCV003336533 RCV005096407 RCV004565274 RCV004565275 RCV003337395 RCV003336535 RCV003337402 RCV004565311 RCV002515106 RCV002516422 RCV000198238 RCV004562320 RCV000234000 RCV003337401 RCV004565304 RCV004565306 RCV003336560 RCV004565308 RCV004565318 RCV004565319 RCV004565321 RCV004565290 RCV004565291 RCV004565298 RCV000161944 RCV004565323 RCV003337405 RCV004565333 RCV003464487 RCV004565322 RCV004565340 RCV003103423 RCV004562337 RCV000763538 RCV000460182 RCV004562359 RCV003454411 RCV000226886 RCV004562356 RCV004562381 RCV003335155 RCV002515125 RCV004562354 RCV002516443 RCV003337242 RCV002515179 RCV004572396 RCV004565350 RCV003774484 RCV004565345 RCV004565346 RCV003337407 RCV006252615 RCV004565348 RCV003336719 RCV004565343 RCV004565356 RCV004565361 RCV004565362 RCV003100959 RCV004565354 RCV003336730 RCV004565358 RCV004565363 RCV004565596 RCV004565355 RCV003337408 RCV003337410 RCV003336733 RCV003337412 RCV004571155 RCV004565599 RCV003336753 RCV003336750 RCV004571158 RCV004565603 RCV003337413 RCV002463411 RCV003337414 RCV000168066 RCV000168200 RCV004567362 RCV000168194 RCV004565610 RCV003060003 RCV004565664 RCV004565665 RCV004565666 RCV003068732 RCV004565691 RCV004565709 RCV004565710 RCV004562396 RCV000174977 RCV004565724 RCV002640740 RCV002640741 RCV004565730 RCV004565731 RCV004565732 RCV002664373 RCV004565734 RCV002664375 RCV004565735 RCV004565736 RCV004565737 RCV002664376 RCV004565738 RCV004565616 RCV003776646 RCV003776792 RCV004571263 RCV004571291 RCV004571258 RCV004571284 RCV004571314 RCV004571363 RCV002839419 RCV004571302 RCV004571310 RCV004571328 RCV004571355 RCV004571381 RCV004571396 RCV002894139 RCV004571391 RCV004571392 RCV004571388 RCV004571406 RCV004571413 RCV004571371 RCV004571409 RCV004571820 RCV004571795 RCV004571774 RCV002885289 RCV004571811 RCV004571800 RCV004571802 RCV000199388 RCV002515468 RCV000197702 RCV003337243 RCV000195881 RCV002288811 RCV004562405 RCV002971054 RCV004565640 RCV003000037 RCV004572515 RCV004565648 RCV004565654 RCV004562414 RCV002517324 RCV002517325 RCV004563115 RCV004563118 RCV002517332 RCV004563119 RCV002519591 RCV004563120 RCV004563121 RCV002517337 RCV003337251 RCV002517339 RCV004567443 RCV004562410 RCV002517319 RCV002517320 RCV000204247 RCV002519584 RCV003337245 RCV002517321 RCV004562412 RCV004562413 RCV003229818 RCV003633487 RCV002519586 RCV002515483 RCV005420747 RCV003335204 RCV004567445 RCV004562416 RCV000410020 RCV004562417 RCV004562418 RCV004562419 RCV004562420 RCV004562421 RCV004562422 RCV004562423 RCV004562424 RCV004562425 RCV000411477 RCV004562426 RCV002517329 RCV004562427 RCV004563114 RCV003335213 RCV004563116 RCV002519589 RCV004563117 RCV002517331 RCV002519590 RCV004563122 RCV002517336 RCV004563123 RCV002517338 RCV004572518 RCV004572531 RCV004572546 RCV004565657 RCV004572568 RCV004572569 RCV004572618 RCV004565655 RCV004572595 RCV004572584 RCV004572654 RCV004572637 RCV003059513 RCV004565659 RCV004565660 RCV004572672 RCV004572679 RCV004572710 RCV004572717 RCV004572718 RCV004572704 RCV003335225 RCV002243886 RCV003765321 RCV004563140 RCV004563160 RCV003462425 RCV000767384 RCV001254064 RCV003765401 RCV000411683 RCV000763539 RCV002518265 RCV002516175 RCV002519679 RCV003765410 RCV003148685 RCV003337255 RCV004563196 RCV002516171 RCV004563184 RCV002518241 RCV003765431 RCV003337253 RCV004563156 RCV002515704 RCV003335247 RCV002515653 RCV004563185 RCV003337259 RCV003337254 RCV003765441 RCV003765433 RCV003335266 RCV004567568 RCV000225339 RCV004563228 RCV004563238 RCV000229992 RCV000232568 RCV002519767 RCV000229977 RCV002516261 RCV000230843 RCV000234542 RCV004563231 RCV002516269 RCV002516270 RCV004563234 RCV004563242 RCV004563243 RCV000232552 RCV000229708 RCV004563254 RCV003149087 RCV003336816 RCV003336817 RCV003336818 RCV004565807 RCV003337420 RCV004565809 RCV004565810 RCV004565815 RCV004790500 RCV004565819 RCV004565820 RCV000234996 RCV004567771 RCV000234988 RCV000234994 RCV000411017 RCV003337264 RCV002519826 RCV002518443 RCV002519828 RCV004563272 RCV001845049 RCV003337266 RCV002519827 RCV004563281 RCV004563277 RCV003224985 RCV004572884 RCV003228784 RCV003228785 RCV002518766 RCV004563294 RCV004563288 RCV004563289 RCV004563290 RCV004563292 RCV004563291 RCV004567812 RCV003335296 RCV004563293 RCV003337269 RCV002518800 RCV004567822 RCV004563298 RCV003336838 RCV003336843 RCV003336844 RCV004566064 RCV003337425 RCV003315218 RCV003316939 RCV003316961 RCV004566068 RCV004566069 RCV004566070 RCV004566071 RCV004566072 RCV004566073 RCV004566074 RCV003485929 RCV003337426 RCV003336853 RCV004566078 RCV003336855 RCV004566079 RCV003337427 RCV004566080 RCV004566081 RCV004566082 RCV004566083 RCV003337428 RCV004566084 RCV004566085 RCV003337431 RCV003337432 RCV004566086 RCV003475565 RCV004566087 RCV003337433 RCV004566088 RCV004566089 RCV004566090 RCV003337434 RCV004566091 RCV004566092 RCV003337436 RCV004566093 RCV003337438 RCV004566094 RCV003337439 RCV003337440 RCV004566095 RCV004566096 RCV003337441 RCV004566097 RCV004566098 RCV003336949 RCV004566099 RCV003337442 RCV004566100 RCV004566101 RCV004566102 RCV004566103 RCV004566104 RCV003337444 RCV004566105 RCV004566106 RCV004566107 RCV004566108 RCV004572937 RCV003337447 RCV004566109 RCV004566110 RCV004566111 RCV004566112 RCV004566113 RCV004566114 RCV004566115 RCV004566116 RCV004566117 RCV003337451 RCV004566118 RCV004566119 RCV003337045 RCV004566120 RCV003337453 RCV004566121 RCV003337455 RCV004566122 RCV004566123 RCV003337457 RCV003337071 RCV004566124 RCV004566125 RCV003337458 RCV003337459 RCV003337461 RCV003337462 RCV004566127 RCV004566128 RCV003337464 RCV004566129 RCV004566130 RCV004566131 RCV003337465 RCV004566132 RCV003337145 RCV004566133 RCV004566134 RCV004566135 RCV004566136 RCV004566137 RCV003337469 RCV004566138 RCV004566139 RCV003337470 RCV004566140 RCV004566141 RCV004566142 RCV003337472 RCV003337473 RCV004566143 RCV003337181 RCV004566144 RCV004566145 RCV004566146 RCV003337475 RCV004566147 RCV004566148 RCV003337477 RCV004566149 RCV003337478 RCV004566150 RCV004566151 RCV004566152 RCV004566153 RCV003337217 RCV003337480 RCV004566154 RCV004566155 RCV004566156 RCV003337482 RCV004566157 RCV004566158 RCV003337484 RCV004566159 RCV004566160 RCV004566161 RCV003334516 RCV003337487 RCV003337488 RCV004566162 RCV004566163 RCV004566164 RCV003337489 RCV004566165 RCV004566166 RCV003337491 RCV003337492 RCV004566167 RCV004566168 RCV004566169 RCV004566170 RCV004566171 RCV003337494 RCV004566172 RCV004566173 RCV004566174 RCV004566175 RCV004566176 RCV004566177 RCV004566178 RCV004566179 RCV004566180 RCV004566181 RCV004566182 RCV004566183 RCV004566184 RCV004566185 RCV003337499 RCV004566186 RCV003334629 RCV004566187 RCV004566188 RCV003337501 RCV004566189 RCV004566190 RCV003337503 RCV003337504 RCV003337505 RCV003337506 RCV004566191 RCV003337507 RCV004566192 RCV004566193 RCV003334675 RCV004566194 RCV004566195 RCV004566196 RCV003337509 RCV004566197 RCV004566198 RCV004566199 RCV004566200 RCV003337512 RCV003337513 RCV004566201 RCV004566202 RCV004566203 RCV003334710 RCV004566204 RCV004566205 RCV004566206 RCV004566207 RCV003337516 RCV003337517 RCV003337518 RCV003337519 RCV003334783 RCV004566208 RCV003334785 RCV003334786 RCV003337520 RCV004566209 RCV003337522 RCV004566210 RCV004566211 RCV004566212 RCV003334793 RCV004566213 RCV003337523 RCV004566214 RCV004566215 RCV003334798 RCV003337525 RCV004566216 RCV003334801 RCV003337527 RCV004566217 RCV004566218 RCV003337529 RCV004566219 RCV003337531 RCV004566220 RCV003337533 RCV003334810 RCV003337534 RCV003334812 RCV004566221 RCV003337536 RCV004566222 RCV003337538 RCV003337539 RCV004566223 RCV004566224 RCV003334820 RCV003334821 RCV004566225 RCV004566226 RCV004566227 RCV004566228 RCV004566229 RCV003334827 RCV004566230 RCV003334829 RCV003337545 RCV003334831 RCV004566231 RCV004566232 RCV003334834 RCV004566233 RCV004566234 RCV004566235 RCV004566236 RCV003337547 RCV003334840 RCV004566237 RCV003337548 RCV004566238 RCV004566239 RCV003334845 RCV004566240 RCV003337550 RCV004566241 RCV004566242 RCV004566243 RCV003337552 RCV004566244 RCV004566245 RCV003337554 RCV004566246 RCV003337556 RCV004566247 RCV004566248 RCV003337557 RCV004566249 RCV004566250 RCV003337559 RCV004566251 RCV004566252 RCV004566253 RCV004566254 RCV003334867 RCV003337561 RCV003337562 RCV004566255 RCV004566256 RCV004566257 RCV003337565 RCV004566258 RCV003337567 RCV004566259 RCV004566260 RCV004566261 RCV003334879 RCV003337570 RCV004566262 RCV004566263 RCV004566264 RCV004566265 RCV004566266 RCV003337572 RCV004566267 RCV004566268 RCV004566269 RCV003334890 RCV004566270 RCV004566271 RCV003337576 RCV003337577 RCV003337578 RCV003337579 RCV003337580 RCV003337581 RCV004566272 RCV004566273 RCV004566274 RCV004566275 RCV004566276 RCV004566277 RCV003337583 RCV004566278 RCV004566279 RCV003334908 RCV004566280 RCV004564906 RCV004564907 RCV004564908 RCV004564909 RCV004564910 RCV003334915 RCV003334916 RCV004564911 RCV004564912 RCV004564913 RCV003334920 RCV004564914 RCV003334922 RCV004564915 RCV004564916 RCV004564917 RCV004564918 RCV004564919 RCV003334928 RCV003475568 RCV004564920 RCV004564921 RCV004564922 RCV004564923 RCV004564924 RCV004564925 RCV003337600 RCV004564926 RCV003334938 RCV004564927 RCV004564928 RCV004564929 RCV004564930 RCV004564931 RCV004564932 RCV004564933 RCV003334946 RCV003337604 RCV003334949 RCV003337605 RCV003334951 RCV003337606 RCV004564934 RCV003337608 RCV004564935 RCV003334957 RCV004564936 RCV003337609 RCV003334960 RCV004564937 RCV004564938 RCV004564939 RCV003337612 RCV004564940 RCV004564941 RCV003337615 RCV003337616 RCV004564942 RCV004564943 RCV004564945 RCV004564946 RCV004564947 RCV004564948 RCV004564949 RCV004564950 RCV004564951 RCV004564952 RCV004564953 RCV003337623 RCV004564954 RCV004564955 RCV004564956 RCV004564957 RCV004564958 RCV003334988 RCV004564959 RCV004564960 RCV003337627 RCV003334992 RCV003334993 RCV003334994 RCV004564961 RCV003334996 RCV003459842 RCV003334998 RCV004564962 RCV004564963 RCV003335001 RCV003337630 RCV004564964 RCV004564965 RCV004564966 RCV003337633 RCV003337634 RCV004564967 RCV003337635 RCV004564968 RCV003335537 RCV004564969 RCV003337638 RCV004564970 RCV003335541 RCV004564971 RCV003337641 RCV004564972 RCV004564973 RCV003337643 RCV003337644 RCV004564974 RCV004564975 RCV004564976 RCV003337646 RCV004564977 RCV003337648 RCV003335558 RCV004564978 RCV004564979 RCV004564980 RCV003337649 RCV004564981 RCV003337651 RCV003335566 RCV004564982 RCV003337652 RCV004564983 RCV003337653 RCV004564984 RCV003335574 RCV003337655 RCV004564985 RCV004564986 RCV003335579 RCV004564987 RCV004564988 RCV004564989 RCV004564990 RCV004564991 RCV003337659 RCV004564992 RCV004564993 RCV004564994 RCV004564995 RCV003337660 RCV004564996 RCV004564997 RCV003459843 RCV003337662 RCV004564998 RCV004564999 RCV003335614 RCV004565000 RCV003337665 RCV003335617 RCV004565001 RCV004565002 RCV003337667 RCV004565003 RCV003337668 RCV003337669 RCV003337670 RCV004565004 RCV004565005 RCV003337671 RCV004565006 RCV003337673 RCV004565007 RCV004565008 RCV004565009 RCV004565010 RCV004565011 RCV004565012 RCV004565013 RCV003337676 RCV004565014 RCV003337677 RCV004565015 RCV003335674 RCV004565016 RCV003337679 RCV004565017 RCV004565018 RCV004565019 RCV003337682 RCV004565020 RCV004565021 RCV004565022 RCV004565023 RCV004565024 RCV003335702 RCV004565025 RCV004565026 RCV004565027 RCV004565028 RCV003337684 RCV004565029 RCV004565030 RCV003466066 RCV004565031 RCV003337686 RCV004565032 RCV004565033 RCV004565034 RCV004565035 RCV003337688 RCV004565036 RCV004565037 RCV003337690 RCV003337691 RCV003335743 RCV004565038 RCV004565039 RCV004565040 RCV004565041 RCV004565042 RCV003335766 RCV004565043 RCV004565044 RCV004565045 RCV004565046 RCV004565047 RCV003337693 RCV003337694 RCV004565048 RCV004565054 RCV003463421 RCV003471770 RCV003463438 RCV003463441 RCV003463445 RCV003472531 RCV003472533 RCV003472535 RCV003472536 RCV003471554 RCV003471587 RCV003463206 RCV003476583 RCV004565063 RCV004565064 RCV003456335 RCV003452405 RCV004593296 RCV003484463 RCV003484510 RCV004565086 RCV004565121 RCV004565074 RCV004565115 RCV004565378 RCV004565384 RCV004565385 RCV004565375 RCV004565395 RCV004565404 RCV004565381 RCV004565438 RCV004565421 RCV004565452 RCV004565453 RCV004565455 RCV004565456 RCV004565457 RCV004565458 RCV004565459 RCV004565482 RCV004565460 RCV004565501 RCV004565497 RCV004565547 RCV004565505 RCV004565515 RCV004565523 RCV004565535 RCV004565839 RCV004565841 RCV004565842 RCV004565563 RCV004565564 RCV004565565 RCV004565566 RCV003779317 RCV004574157 RCV004574229 RCV004574228 RCV004574242 RCV004574226 RCV004574227 RCV004574237 RCV004574263 RCV004574270 RCV004574267 RCV004574266 RCV004574282 RCV004565898 RCV004574292 RCV004574300 RCV004574308 RCV004574315 RCV004573180 RCV004573212 RCV004573190 RCV004573217 RCV003837370 RCV003850046 RCV003886318 RCV003989078 RCV004440052 RCV004442565 RCV004555221 RCV004576186 RCV004576187 RCV004574428 RCV004574595 RCV004577428 RCV004589145 RCV004589147 RCV004589345 RCV004589356 RCV004589357 RCV004594877 RCV004595363 RCV000410141 RCV000411158 RCV000410538 RCV000411669 RCV000411671 RCV000409307 RCV000755040 RCV004563307 RCV004563308 RCV003337272 RCV004563309 RCV004563310 RCV003335337 RCV003766585 RCV002463448 RCV002523390 RCV002523377 RCV004564095 RCV000461862 RCV004564054 RCV002525610 RCV004564078 RCV003476101 RCV003148749 RCV004564051 RCV003337276 RCV002523387 RCV003766596 RCV003633508 RCV004564105 RCV003766589 RCV004564053 RCV003766582 RCV004564065 RCV002526446 RCV002526461 RCV004564099 RCV004564127 RCV003148748 RCV003470484 RCV004564048 RCV003335342 RCV004564070 RCV003337280 RCV004564081 RCV004564100 RCV002523400 RCV002525748 RCV002525821 RCV003337281 RCV002525784 RCV002525822 RCV002525749 RCV003335355 RCV002526531 RCV000709988 RCV004564173 RCV004564172 RCV002526560 RCV003337283 RCV004564174 RCV002525790 RCV004564182 RCV000786963 RCV004564175 RCV004564170 RCV004564176 RCV004568191 RCV004564192 RCV004568197 RCV004564218 RCV004564199 RCV004564216 RCV002526067 RCV004564202 RCV000000870 RCV002527051 RCV004564205 RCV004564207 RCV004564220 RCV004564219 RCV004568612 RCV002523967 RCV004564211 RCV002523963 RCV002523436 RCV004564221 RCV004564206 RCV004564215 RCV002523975 RCV004564214 RCV004564200 RCV004564217 RCV002527052 RCV004564225 RCV004564210 RCV004564197 RCV003335387 RCV004564208 RCV004568610 RCV001310097 RCV004564222 RCV000656377 RCV003766759 RCV003766757 RCV005415573 RCV002523995 RCV002523994 RCV004564227 RCV003337607 RCV004564228 RCV003766767 RCV004568620 RCV002523998 RCV002523996 RCV004564229 RCV003337289 RCV003335409 RCV000499663 RCV003337291 RCV005600959 RCV003335410 RCV002524123 RCV004564230 RCV002527170 RCV004594067 RCV000502557 RCV002524124 RCV002524125 RCV004564231 RCV004564232 RCV004564233 RCV004564234 RCV000699866 RCV004564235 RCV002524127 RCV004564236 RCV005600960 RCV004564237 RCV004564238 RCV003337297 RCV003337298 RCV003337299 RCV003335424 RCV002527174 RCV001258086 RCV004564239 RCV001845050 RCV004564240 RCV004564241 RCV004564242 RCV003337302 RCV003335429 RCV002524131 RCV004564244 RCV002524426 RCV004564245 RCV003766868 RCV004568646 RCV002527337 RCV004564249 RCV003337305 RCV002527346 RCV004564252 RCV004564253 RCV004561492 RCV002527572 RCV003335447 RCV004561493 RCV004561494 RCV004561583 RCV004561584 RCV002527857 RCV002526173 RCV004561505 RCV002526199 RCV000545482 RCV004561524 RCV003337309 RCV004568927 RCV004561580 RCV004561591 RCV004568982 RCV004569050 RCV003767010 RCV004561504 RCV004561506 RCV004561511 RCV003337308 RCV004568949 RCV004568975 RCV004561612 RCV004561606 RCV002527881 RCV004561623 RCV002526174 RCV004568848 RCV004561507 RCV004568874 RCV004568878 RCV002526253 RCV004561576 RCV003335467 RCV002526260 RCV004561581 RCV004561599 RCV004568971 RCV004561609 RCV004561519 RCV004568944 RCV004568958 RCV004568962 RCV004561594 RCV004562440 RCV004561634 RCV005415578 RCV003337318 RCV004562477 RCV003767144 RCV004562512 RCV004562500 RCV003767237 RCV003337313 RCV004562488 RCV004568225 RCV004561685 RCV004562476 RCV003335524 RCV002526876 RCV003335515 RCV002530349 RCV003148798 RCV002529017 RCV002528043 RCV004562498 RCV003767248 RCV004562494 RCV004561671 RCV004562448 RCV002530282 RCV004561663 RCV005056211 RCV002530356 RCV004562495 RCV003335503 RCV000576769 RCV000576849 RCV004562547 RCV004562554 RCV003337322 RCV004562567 RCV004562550 RCV002529139 RCV004562576 RCV004562621 RCV004562622 RCV004562623 RCV004562624 RCV004562625 RCV004562626 RCV002530816 RCV002530817 RCV004562627 RCV004562628 RCV005091519 RCV004562629 RCV004562630 RCV004562631 RCV002530879 RCV004562637 RCV004562633 RCV004568318 RCV004562642 RCV000035067 RCV000035081 RCV002513348 RCV002530402 RCV004563465 RCV004563438 RCV002533274 RCV004563461 RCV004563403 RCV004563423 RCV000646339 RCV002533305 RCV002530412 RCV004563421 RCV004563442 RCV004563470 RCV004563400 RCV002533282 RCV004563474 RCV004563440 RCV004563402 RCV004563415 RCV004563422 RCV004563399 RCV004563448 RCV004563450 RCV004563451 RCV000656740 RCV003459555 RCV004563560 RCV004563561 RCV004563566 RCV004563562 RCV004563565 RCV004563564 RCV003337331 RCV000763543 RCV004568477 RCV004563563 RCV000662305 RCV000662306 RCV000662861 RCV000663045 RCV000663172 RCV000662823 RCV003459649 RCV004564303 RCV004564369 RCV004564360 RCV004564290 RCV002532271 RCV004564294 RCV004564446 RCV000693291 RCV004564380 RCV004564422 RCV004564296 RCV004564279 RCV004564440 RCV004564324 RCV002544732 RCV004564364 RCV000685679 RCV004564266 RCV002532250 RCV004564309 RCV004564391 RCV002294368 RCV004564393 RCV004564448 RCV004564317 RCV004564389 RCV004564417 RCV004564286 RCV004564367 RCV000687899 RCV004564418 RCV004564260 RCV004564273 RCV004564256 RCV004564419 RCV004564462 RCV000708956 RCV000708957 RCV000708960 RCV000708962 RCV000708973 RCV000755038 RCV000755039 RCV003336725 RCV003768273 RCV004564470 RCV005092185 RCV004564473 RCV004561726 RCV004788167 RCV004562715 RCV004562754 RCV004561946 RCV004561809 RCV004561800 RCV002537026 RCV002535903 RCV004561820 RCV004562684 RCV004562699 RCV000806005 RCV004561842 RCV004561811 RCV004561829 RCV004562820 RCV002537180 RCV002537258 RCV002537423 RCV004562747 RCV004561889 RCV004562679 RCV004562763 RCV002534712 RCV004561858 RCV002537375 RCV004562732 RCV004561846 RCV004562712 RCV004562705 RCV004561931 RCV004562682 RCV004562790 RCV004562809 RCV004561845 RCV004561913 RCV004562792 RCV004561925 RCV004562804 RCV002535507 RCV002534748 RCV004561882 RCV004561879 RCV002536956 RCV004561911 RCV004561873 RCV004561840 RCV004561841 RCV000806415 RCV004562794 RCV002537349 RCV004561942 RCV002535953 RCV004561918 RCV004562736 RCV004562765 RCV004562750 RCV004562796 RCV004562738 RCV004561821 RCV000792397 RCV004562783 RCV002538038 RCV002537333 RCV004561924 RCV004562825 RCV004562711 RCV000822854 RCV000808449 RCV002549638 RCV004569824 RCV000987558 RCV000987563 RCV000987570 RCV000987574 RCV003095118 RCV004563620 RCV004563630 RCV003336246 RCV004563734 RCV004563624 RCV004563633 RCV003461327 RCV004563650 RCV004563652 RCV004563660 RCV004563666 RCV002549506 RCV003230619 RCV004563673 RCV004563674 RCV004563678 RCV004563680 RCV001845052 RCV004563690 RCV004563718 RCV004590012 RCV004563724 RCV002551948 RCV004563733 RCV002552418 RCV003148912 RCV004563684 RCV003337345 RCV003769509 RCV002553298 RCV004570213 RCV003336303 RCV004564564 RCV002552549 RCV004564559 RCV001061786 RCV002552625 RCV002552501 RCV004564524 RCV002553928 RCV004570143 RCV004570126 RCV002553909 RCV004564521 RCV004570238 RCV004564480 RCV004564485 RCV004564483 RCV004564525 RCV004564563 RCV002554440 RCV004564503 RCV004564526 RCV004564539 RCV004564567 RCV004564518 RCV004564500 RCV004563781 RCV002553825 RCV004564522 RCV004564502 RCV004563792 RCV004570155 RCV004570099 RCV004564544 RCV004564495 RCV004570233 RCV004564529 RCV004570113 RCV004563797 RCV004570101 RCV002552622 RCV001066456 RCV003337354 RCV004564648 RCV005093854 RCV005093762 RCV003336314 RCV003336327 RCV001358570 RCV004570533 RCV004561971 RCV004561961 RCV004570512 RCV004561996 RCV004561975 RCV004561964 RCV004570551 RCV004570491 RCV004561986 RCV004570520 RCV002562420 RCV004561976 RCV002562510 RCV003770254 RCV002561119 RCV004561954 RCV002561083 RCV004570468 RCV004564686 RCV004564701 RCV004561953 RCV002561675 RCV002561791 RCV004564706 RCV004562237 RCV003337231 RCV002567879 RCV004562010 RCV004562059 RCV004562043 RCV004562035 RCV004562053 RCV004562023 RCV004562044 RCV004562055 RCV002567894 RCV002563156 RCV004562022 RCV000144562 RCV000206027 RCV004562104 RCV004562108 RCV004562098 RCV004562101 RCV004562094 RCV004562107 RCV004562089 RCV001243559 RCV002568654 RCV004562096 RCV001245920 RCV001253489 RCV001256668 RCV004562120 RCV004562122 RCV004562121 RCV004562123 RCV004562244 RCV004562245 RCV002513817 RCV002514367 RCV004562246 RCV002515753 RCV004562126 RCV002541887 RCV001310093 RCV001310094 RCV001310090 RCV001310096 RCV001310091 RCV001310092
Familial colorectal cancer	Pathogenic	rs79512956, rs74953290	RCV000073620 RCV000073865
Familial multiple polyposis syndrome	Pathogenic; Likely pathogenic	rs2149809839, rs2149844646, rs2149915790, rs2149894857, rs1764700195, rs587779780, rs587779783, rs587779794, rs62619935, rs2149892043, rs2149867683, rs2149859523, rs587781330, rs587781392, rs587781694 View all (122 more)	RCV001824962 RCV002298942 RCV001532955 RCV001553561 RCV004770205 RCV003479005 RCV000501097 RCV002222394 RCV002281931 RCV001844479 RCV002300632 RCV002236384 RCV000825610 RCV000825611 RCV001778749 RCV005415550 RCV000504124 RCV000499742 RCV000503268 RCV001797583 RCV000844608 RCV001195432 RCV000844610 RCV004689397 RCV000844611 RCV000779705 RCV004017217 RCV000499412 RCV000659272 RCV002281962 RCV002222983 RCV003236592 RCV002282808 RCV000154615 RCV002308541 RCV005239364 RCV003987996 RCV005638628 RCV003323417 RCV003323418 RCV004700500 RCV000501350 RCV000503333 RCV000500049 RCV004017447 RCV002469993 RCV002470038 RCV002470171 RCV000659277 RCV003324050 RCV003387803 RCV000500940 RCV001193574 RCV000779707 RCV003987449 RCV001192828 RCV002298521 RCV003401091 RCV001194208 RCV001260374 RCV000825577 RCV000501152 RCV002229613 RCV003155675 RCV003155854 RCV001844100 RCV000659274 RCV001192833 RCV003226654 RCV003988110 RCV005240748 RCV004701043 RCV003388474 RCV003479999 RCV005431646 RCV001192946 RCV002298605 RCV000659273 RCV001778973 RCV005418158 RCV001824795 RCV003330724 RCV001192948 RCV003235249 RCV000499978 RCV000499535 RCV000502052 RCV000501745 RCV000501433 RCV000499848 RCV000503307 RCV000504322 RCV002222536 RCV000502116 RCV000503990 RCV000504432 RCV000502811 RCV000499734 RCV000501182 RCV000825578 RCV000780834 RCV005239190 RCV004017676 RCV003226327 RCV003994029 RCV005240238 RCV000588727 RCV000589353 RCV000589699 RCV000588314 RCV000606942 RCV000614623 RCV000605702 RCV000844609 RCV000035070 RCV000844606 RCV000844607 RCV001192798 RCV000659275 RCV001824861 RCV000677773 RCV005418310 RCV003330915 RCV000761223 RCV000780837 RCV000780858 RCV000780846 RCV000780852 RCV005407983 RCV001844255 RCV001260339 RCV003336297 RCV003230636 RCV001174577 RCV001192977 RCV001192832 RCV001199866 RCV000502016 RCV001731359 RCV000779727 RCV001290600
Gardner syndrome	Likely pathogenic; Pathogenic	rs137854568, rs137854569, rs137854570, rs387906234, rs121913224, rs387906236, rs137854580, rs137854582, rs137854583	RCV000000835 RCV000000836 RCV000000837 RCV000000849 RCV000000857 RCV000000866 RCV000000867 RCV000000875 RCV000000882
Gastric adenocarcinoma and proximal polyposis of the stomach	Pathogenic; Likely pathogenic	rs587779783, rs137854575, rs879253783, rs879253784, rs879253782	RCV001824606 RCV003137694 RCV001290975 RCV001290976 RCV006249621
Gastric cancer	Pathogenic	rs587781694, rs137854571, rs137854573, rs2149813944, rs1310024982, rs1764704274, rs1304970506, rs2533719406, rs2533669824, rs1114167596, rs1554086196, rs1270783041	RCV003162574 RCV000000840 RCV003162203 RCV003164556 RCV003164557 RCV003164596 RCV003164615 RCV003164616 RCV003164661 RCV003159591 RCV003159612 RCV003159968
Gastric polyposis	Pathogenic	rs121913224	RCV000626570
Hepatoblastoma	Pathogenic	rs2149898263, rs137854578	RCV001843902 RCV000000859
Hepatocellular carcinoma	Pathogenic; Likely pathogenic	rs62619935, rs587781392, rs137854573, rs137854575, rs397514032, rs786201856, rs863225311, rs876660765, rs397515734, rs1554085355	RCV000763536 RCV000763535 RCV000763541 RCV000763542 RCV000000883 RCV000763538 RCV000763540 RCV000763539 RCV000763537 RCV000763543
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs1762431806, rs1554069573, rs2149787552, rs2149614206, rs2149808371, rs2149865532, rs2149879574, rs2149880355, rs2149892641, rs1756316465, rs879254087, rs2149615315, rs2149782982, rs2149809839, rs1580623270 View all (845 more)	RCV003166909 RCV002432001 RCV002432004 RCV003382549 RCV004651616 RCV002447447 RCV002438824 RCV002438825 RCV002460147 RCV005453290 RCV003298629 RCV002329406 RCV005682646 RCV002395872 RCV002432072 RCV003339630 RCV002322368 RCV004945107 RCV002329402 RCV002368221 RCV002413917 RCV003161038 RCV004037889 RCV001526055 RCV002334597 RCV002361005 RCV002397750 RCV002449428 RCV001804650 RCV000115066 RCV000115073 RCV003278666 RCV002336249 RCV002345412 RCV004649068 RCV000223521 RCV002361080 RCV002352643 RCV002386689 RCV002361226 RCV005465648 RCV005374859 RCV002425243 RCV005374858 RCV002423141 RCV002344100 RCV004043761 RCV003166991 RCV002331534 RCV002458888 RCV004046025 RCV005684852 RCV002423134 RCV002388930 RCV004945777 RCV005403162 RCV002352652 RCV002334972 RCV002423144 RCV005684855 RCV005684856 RCV006327402 RCV002352610 RCV000129077 RCV000129233 RCV000129375 RCV000129859 RCV000130080 RCV000130251 RCV000131175 RCV000131187 RCV000131192 RCV000131645 RCV000131673 RCV000131775 RCV000132249 RCV002381234 RCV005372222 RCV002390083 RCV000164370 RCV000491636 RCV001019125 RCV000491548 RCV000490845 RCV000129303 RCV000493386 RCV000129305 RCV001022414 RCV000565829 RCV000491571 RCV000128941 RCV002336071 RCV000491830 RCV001010266 RCV000772639 RCV000491238 RCV000491262 RCV000563288 RCV002354330 RCV001012984 RCV005382400 RCV005465730 RCV002259204 RCV002255867 RCV002257183 RCV003585239 RCV003164528 RCV002319879 RCV002459421 RCV002454952 RCV002349045 RCV002349092 RCV002349119 RCV002366282 RCV002357363 RCV002357411 RCV002323235 RCV006327068 RCV002328138 RCV002329923 RCV002329962 RCV002322772 RCV002443333 RCV002326425 RCV002326468 RCV002459048 RCV002452592 RCV002346765 RCV002355514 RCV002359578 RCV002321339 RCV002321349 RCV002333521 RCV002333533 RCV002320800 RCV002322522 RCV002322539 RCV002322683 RCV002445783 RCV002326242 RCV002460214 RCV002337462 RCV002460223 RCV002337483 RCV002460247 RCV002452331 RCV002355344 RCV002357738 RCV002375547 RCV002332374 RCV002320682 RCV002457119 RCV002457123 RCV002460292 RCV002349263 RCV002357534 RCV002373194 RCV002333012 RCV002333024 RCV002333038 RCV002333092 RCV002333237 RCV002331894 RCV002328309 RCV002340742 RCV002349611 RCV002347664 RCV002356175 RCV002368910 RCV001016886 RCV002326915 RCV003380497 RCV002340360 RCV002453559 RCV002330809 RCV000159590 RCV002340500 RCV002336065 RCV002338177 RCV002338207 RCV002338269 RCV002364429 RCV002340230 RCV002337891 RCV002335630 RCV002346815 RCV002352045 RCV002353249 RCV002353357 RCV002353420 RCV002353427 RCV002360343 RCV002360447 RCV002361846 RCV002361852 RCV002377942 RCV002339926 RCV002335498 RCV002335502 RCV002337637 RCV002337653 RCV002337757 RCV002351350 RCV002351781 RCV002351859 RCV002359903 RCV002375900 RCV000491386 RCV002378094 RCV002378169 RCV002393974 RCV002396226 RCV002416678 RCV002416756 RCV002416803 RCV002416809 RCV002434647 RCV002371434 RCV002362206 RCV002367547 RCV002369339 RCV002421407 RCV002374091 RCV002396359 RCV000163246 RCV002396464 RCV002400482 RCV000164351 RCV000164280 RCV000165582 RCV000166096 RCV000166142 RCV000165111 RCV000167206 RCV000164276 RCV000162703 RCV000165005 RCV002445916 RCV000162741 RCV000166146 RCV000167356 RCV002376179 RCV002371586 RCV002387928 RCV002387968 RCV002389841 RCV002399278 RCV002401429 RCV002401430 RCV002401443 RCV002401445 RCV002397128 RCV002389591 RCV002405750 RCV002397000 RCV002403307 RCV002403309 RCV002401171 RCV002401172 RCV002404091 RCV002415303 RCV002383617 RCV002412721 RCV002421993 RCV002417906 RCV002432631 RCV002457882 RCV002459624 RCV002455645 RCV002421649 RCV002421650 RCV002417850 RCV002428366 RCV002443609 RCV002430763 RCV002426106 RCV002410691 RCV002417343 RCV002417556 RCV002425880 RCV002448200 RCV002448296 RCV002455414 RCV002417015 RCV002423992 RCV002424078 RCV002428484 RCV002446385 RCV002428506 RCV002441651 RCV002439509 RCV002439667 RCV002440084 RCV002441866 RCV002435272 RCV002437596 RCV002437620 RCV002437761 RCV002437781 RCV002437864 RCV002435850 RCV002442146 RCV004067537 RCV002444673 RCV005682245 RCV004067583 RCV003274170 RCV003274199 RCV002426833 RCV000494198 RCV005685161 RCV004072141 RCV004654167 RCV004065004 RCV006327525 RCV000491770 RCV000775125 RCV000493455 RCV000492041 RCV002372182 RCV003585321 RCV000491712 RCV000491545 RCV000570097 RCV002327054 RCV000568959 RCV001023190 RCV000568686 RCV000491613 RCV000563395 RCV002345721 RCV001025281 RCV002363021 RCV002399752 RCV000491236 RCV002381694 RCV000493121 RCV000490831 RCV000570454 RCV001175690 RCV006302151 RCV000572094 RCV002415860 RCV001013903 RCV002415861 RCV000490899 RCV000218609 RCV002453732 RCV000493802 RCV001021131 RCV000490989 RCV000775141 RCV001021699 RCV003380517 RCV002327055 RCV000575577 RCV001184959 RCV000491031 RCV002354570 RCV002354571 RCV004658989 RCV006332167 RCV005455662 RCV004020501 RCV002336550 RCV000491422 RCV004649098 RCV000215333 RCV000213314 RCV000221332 RCV000213087 RCV000221156 RCV000217536 RCV000214782 RCV000217871 RCV000217532 RCV000221309 RCV000214229 RCV000219498 RCV000220669 RCV000215321 RCV000217935 RCV000217961 RCV000217597 RCV000215115 RCV000220818 RCV000213199 RCV000216864 RCV000221207 RCV000214795 RCV000213818 RCV000216288 RCV000214546 RCV000221539 RCV000220260 RCV000214118 RCV000219835 RCV000217699 RCV000220550 RCV000216176 RCV000221437 RCV000217426 RCV000222855 RCV002338700 RCV002399804 RCV001013490 RCV002417982 RCV005682258 RCV000491362 RCV000491908 RCV002354627 RCV002372241 RCV003165107 RCV003165108 RCV003165109 RCV003177473 RCV003177475 RCV003177498 RCV003177502 RCV003177510 RCV003177531 RCV003177532 RCV001013699 RCV002411065 RCV004020915 RCV002418092 RCV002327164 RCV002327162 RCV001023029 RCV001010499 RCV000491475 RCV002418039 RCV002450733 RCV001015839 RCV004943828 RCV002379096 RCV006287172 RCV002418096 RCV001023055 RCV001026088 RCV001026970 RCV000491896 RCV000491139 RCV003300879 RCV003306819 RCV003306822 RCV003278259 RCV003306827 RCV003306833 RCV003278285 RCV003306848 RCV003306864 RCV003306867 RCV003278294 RCV003278308 RCV003311052 RCV005685187 RCV004333282 RCV006332243 RCV004661635 RCV005455764 RCV004654197 RCV005455765 RCV004334133 RCV006292355 RCV004661636 RCV005377357 RCV005467947 RCV004334136 RCV005455766 RCV004943021 RCV004943022 RCV004334137 RCV005629687 RCV005382625 RCV004334138 RCV005455767 RCV006307352 RCV003585383 RCV004654198 RCV004334139 RCV004654199 RCV006307353 RCV004334140 RCV005685190 RCV004334141 RCV006332244 RCV005403310 RCV006307354 RCV005382626 RCV006332245 RCV004334143 RCV005377358 RCV004661637 RCV005685191 RCV004334144 RCV006332246 RCV004943023 RCV004943024 RCV005455768 RCV005455769 RCV004334145 RCV005685192 RCV005402029 RCV003339093 RCV003339097 RCV003341966 RCV003359667 RCV005377387 RCV005387186 RCV005685222 RCV005467991 RCV003584433 RCV003584462 RCV003585682 RCV003585716 RCV003585721 RCV003585880 RCV003585993 RCV003585131 RCV003585143 RCV004366896 RCV005687302 RCV004417542 RCV004417543 RCV004513457 RCV004520674 RCV004520716 RCV004520740 RCV004520777 RCV004522794 RCV004522854 RCV004522934 RCV004522961 RCV004522966 RCV004521838 RCV004518458 RCV004516089 RCV004508371 RCV004525459 RCV004525060 RCV004523204 RCV004525208 RCV004520928 RCV004943316 RCV000491460 RCV002402098 RCV005401426 RCV002356506 RCV002356507 RCV002450956 RCV004943831 RCV001180269 RCV001021924 RCV002348333 RCV002393156 RCV005462984 RCV000491133 RCV002446835 RCV002436457 RCV002323746 RCV002365660 RCV000490993 RCV000491321 RCV002429542 RCV002339182 RCV000574684 RCV000491762 RCV000491095 RCV002418420 RCV002429543 RCV002323747 RCV000491376 RCV000491926 RCV005384726 RCV002411510 RCV002460078 RCV001025870 RCV000492026 RCV002455907 RCV000561431 RCV002356778 RCV002436523 RCV002256317 RCV001011425 RCV005682290 RCV002413324 RCV003278830 RCV001013836 RCV001186210 RCV004023131 RCV002376873 RCV003338608 RCV006302173 RCV002356762 RCV000491181 RCV000491691 RCV000491405 RCV000491467 RCV000491509 RCV000491579 RCV000490966 RCV000491284 RCV000491093 RCV000491709 RCV000491623 RCV000491122 RCV000490833 RCV000491912 RCV000491023 RCV000491608 RCV000491069 RCV000491013 RCV000491714 RCV000490917 RCV000490872 RCV000491162 RCV000491686 RCV000491035 RCV000491408 RCV000490922 RCV000491461 RCV000491738 RCV000491401 RCV000491052 RCV000491829 RCV000491900 RCV000491570 RCV000491338 RCV000491132 RCV000491925 RCV000491784 RCV000491110 RCV000490829 RCV000491435 RCV000491728 RCV000491161 RCV000491893 RCV000491849 RCV000491231 RCV000491155 RCV000491265 RCV000491417 RCV000491310 RCV000491066 RCV000490964 RCV000490984 RCV000491894 RCV000491927 RCV000491864 RCV000490943 RCV000491527 RCV000491079 RCV000491546 RCV000491218 RCV000494112 RCV000494466 RCV000493755 RCV000492947 RCV004334142 RCV000493587 RCV000494011 RCV000494254 RCV000493028 RCV000494331 RCV000492870 RCV002404292 RCV001024554 RCV002431451 RCV002350113 RCV005453001 RCV002367679 RCV002383959 RCV001186209 RCV002395209 RCV001012986 RCV000708599 RCV002413372 RCV002420270 RCV005453002 RCV005372332 RCV004023354 RCV005372333 RCV002341178 RCV002350114 RCV002255418 RCV002341179 RCV001023039 RCV000567238 RCV005682297 RCV004943932 RCV002395217 RCV002350126 RCV002413392 RCV004023426 RCV002395245 RCV001022064 RCV004943984 RCV000563146 RCV002404498 RCV002438445 RCV001016821 RCV002456175 RCV001186211 RCV002384184 RCV002413578 RCV004649196 RCV002413576 RCV001018532 RCV002324008 RCV002456177 RCV002350317 RCV002256378 RCV000570470 RCV000574643 RCV000565811 RCV000575347 RCV000568374 RCV000563944 RCV000566457 RCV000568191 RCV000570058 RCV000561664 RCV000566555 RCV000569755 RCV000570400 RCV000564974 RCV000563431 RCV000568840 RCV000565148 RCV000563539 RCV000574445 RCV000575615 RCV000573280 RCV000568254 RCV000571383 RCV000575274 RCV000562556 RCV000574350 RCV000566854 RCV000563439 RCV000573057 RCV000562461 RCV000568993 RCV000569036 RCV000561579 RCV000564051 RCV000571946 RCV000574718 RCV000572826 RCV000575964 RCV000573063 RCV000571662 RCV000570138 RCV002413653 RCV000583549 RCV000583640 RCV000581695 RCV000584717 RCV000582622 RCV000582895 RCV000583699 RCV001026311 RCV002404585 RCV003302899 RCV002456277 RCV002341493 RCV000774952 RCV002358642 RCV002384280 RCV002367986 RCV002395627 RCV000491782 RCV000491911 RCV001011139 RCV001021134 RCV002458098 RCV001017313 RCV004649242 RCV001186212 RCV001026436 RCV002360677 RCV004944077 RCV000773636 RCV002331296 RCV002352079 RCV004026072 RCV005682351 RCV002343511 RCV004659172 RCV002458314 RCV002332442 RCV004639318 RCV002352167 RCV001016260 RCV002424593 RCV001019204 RCV004944090 RCV004944088 RCV001805818 RCV002424219 RCV002386324 RCV000772557 RCV000772771 RCV000772369 RCV000774953 RCV000772432 RCV002422669 RCV003307504 RCV003307444 RCV004027474 RCV005463159 RCV005453108 RCV003166370 RCV006327137 RCV002415914 RCV004944224 RCV005682393 RCV004944175 RCV002332620 RCV002332589 RCV002336713 RCV004659232 RCV006302206 RCV001026431 RCV001026486 RCV001026699 RCV001805871 RCV002406810 RCV002363511 RCV002389544 RCV004944770 RCV001011686 RCV001016584 RCV001023522 RCV001024287 RCV001026383 RCV001026509 RCV001018374 RCV001010162 RCV001010742 RCV001010763 RCV001010979 RCV001012012 RCV001012023 RCV001012465 RCV001013804 RCV001015071 RCV001015014 RCV001016253 RCV001016315 RCV001016669 RCV001016705 RCV001017988 RCV001018357 RCV001018394 RCV001018364 RCV001018712 RCV001019531 RCV001020021 RCV001020107 RCV001020154 RCV001021087 RCV001021195 RCV001021312 RCV001021374 RCV001021453 RCV001021706 RCV001021758 RCV001021943 RCV001021995 RCV001022604 RCV001022770 RCV001023765 RCV001025407 RCV001025466 RCV001025603 RCV001026057 RCV001026236 RCV001026374 RCV001026590 RCV001026814 RCV001027165 RCV001022097 RCV001022102 RCV001019181 RCV001019183 RCV001010913 RCV001012475 RCV001012985 RCV002355088 RCV002374927 RCV005372522 RCV002451265 RCV003283955 RCV004944777 RCV003339456 RCV002393350 RCV001191223 RCV001182352 RCV001188231 RCV001189113 RCV001180242 RCV001181185 RCV001176019 RCV001180170 RCV001182660 RCV006327214 RCV002365995 RCV002411812 RCV002418672 RCV002418715 RCV002348692 RCV002426625 RCV002339645 RCV004649521 RCV000162768 RCV000130649 RCV004944954 RCV005463338 RCV002447220 RCV004944946 RCV004944953 RCV002339675 RCV006302310 RCV002430066 RCV001012589 RCV000490954 RCV000115074 RCV002433583 RCV000570934 RCV004943752 RCV005682582
Hyperplastic colonic polyposis	Pathogenic	rs121913224	RCV000626570
Inherited polyposis and early onset colorectal cancer - germline testing	Pathogenic; Likely pathogenic	rs587779780, rs137854572, rs730882135, rs775126020, rs1554074772, rs1554071617	RCV005055068 RCV006436373 RCV006436685 RCV004692773 RCV006438291 RCV005055130
Intestinal polyp	Pathogenic	rs121913224	RCV000626570
Malignant tumor of pancreas	Pathogenic	rs587783031	RCV005049571
Malignant tumor of unknown origin	Pathogenic	rs1554085190	RCV006255175
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs863225370	RCV005898517
Medulloblastoma WNT activated	Pathogenic	rs79122263	RCV006254149
Neoplasm	Pathogenic; Likely pathogenic	rs2149866222, rs587779783, rs62619935, rs2149914756, rs587781392, rs587781694, rs786202324, rs137854568, rs137854573, rs137854574, rs137854575, rs387906234, rs121913224, rs387906236, rs137854580 View all (31 more)	RCV006274214 RCV004668779 RCV004668780 RCV006274287 RCV004668789 RCV005229961 RCV006274270 RCV005229760 RCV006273037 RCV005229761 RCV006273038 RCV006273039 RCV006273040 RCV004668706 RCV006273041 RCV006273042 RCV006273564 RCV005232953 RCV004668828 RCV004673674 RCV004668832 RCV004668843 RCV005230074 RCV004673774 RCV004668862 RCV005230471 RCV004673875 RCV004673876 RCV006274419 RCV005230279 RCV006273723 RCV006273724 RCV004668931 RCV005230445 RCV005230960 RCV005230959 RCV005230975 RCV004669009 RCV006273923 RCV004669046 RCV004668751 RCV004669070 RCV004669082 RCV005231285 RCV006274115 RCV004671279 RCV005232197 RCV006274176 RCV005229885
Neoplasm of stomach	Pathogenic; Likely pathogenic	rs62619935, rs587781392, rs137854573, rs137854575, rs786201856, rs863225311, rs876660765, rs397515734, rs1554085355	RCV000763536 RCV000763535 RCV000763541 RCV000763542 RCV000763538 RCV000763540 RCV000763539 RCV000763537 RCV000763543
Ovarian cancer	Likely pathogenic	rs750174880, rs138410865	RCV003154741 RCV003154758
Periampullary adenoma	Pathogenic; Likely pathogenic	rs387906234, rs879253785	RCV000000850 RCV000000851 RCV004020914

Show/Hide Unknown Diseases (42)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs150973053	RCV005888920
Attenuated familial adenomatous polyposis	Uncertain significance; Conflicting classifications of pathogenicity	rs145945630, rs863224541, rs754363694, rs756346998, rs1580995476	RCV004689634 RCV005429006 RCV005863070 RCV003483665 RCV005863287
Breast cancer, susceptibility to	association; Conflicting classifications of pathogenicity; risk factor	rs1801155	RCV000000865
Breast carcinoma	association; Conflicting classifications of pathogenicity; risk factor; Uncertain significance	rs1801155, rs1580329587	RCV001554302 RCV001574073
Cancer or benign tumor	Conflicting classifications of pathogenicity	rs748745776	RCV005625677
Cholangiocarcinoma	Benign	rs80307314	RCV005921625
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs80307314, rs12521276	RCV005921626 RCV005890424
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs150973053	RCV005888921
Colon cancer	Conflicting classifications of pathogenicity; Uncertain significance	rs772806807, rs768369050, rs1447250546, rs768922376, rs754067085, rs1554084628	RCV000677749 RCV000677746 RCV000677756 RCV000677739 RCV000677743 RCV000677777
Colorectal adenoma	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs146572883, rs111866410, rs141519952, rs139387758, rs146048493, rs146115809, rs138367627, rs369264968, rs371085910, rs147394539, rs367676584, rs201004111, rs145444830	RCV000148364 RCV000148365 RCV000148358 RCV000148366 RCV000148359 RCV000148374 RCV000148367 RCV000148362 RCV000148370 RCV000148363 RCV000148361 RCV000148371 RCV000148373
Diffuse midline glioma, H3 K27-altered	Conflicting classifications of pathogenicity; association; risk factor	rs368080169, rs72541813, rs1801155	RCV003315229 RCV003325188 RCV004776267
Duodenal adenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	rs756859993, rs1554084263	RCV000677741 RCV000677763
Endometrial carcinoma	Benign; Likely benign; Uncertain significance	rs786201145, rs786203880	RCV001355301 RCV001357203
Familial cancer of breast	Uncertain significance; Benign	rs794729227, rs351771, rs12521276	RCV000184048 RCV005888968 RCV005890421
Familial pancreatic carcinoma	Benign	rs80307314	RCV005921623
Gastrointestinal stromal tumor	Uncertain significance	rs760059672	RCV000677755
Gastrointestinal stromal tumor of small intestine	Conflicting classifications of pathogenicity; Uncertain significance	rs771096141, rs1203079846	RCV000677757 RCV000677750
Germ cell tumor of testis	Benign	rs41115	RCV005888969
Hereditary breast ovarian cancer syndrome	Benign; Likely benign	rs1801166	RCV005859321
Hereditary cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	rs587779796, rs200587641, rs372305287, rs192620988, rs587780600, rs201185479, rs186926737, rs72541813, rs375408871, rs587783036, rs76685252, rs138098808, rs535344579, rs876658977, rs33941929 View all (7 more)	RCV003492449 RCV003492450 RCV004700415 RCV003492529 RCV005235024 RCV003492599 RCV003492605 RCV003492615 RCV004700448 RCV003492634 RCV003491922 RCV005235100 RCV003491951 RCV003491973 RCV003491971 RCV003492060 RCV004701574 RCV003492109 RCV005234829 RCV003492324 RCV003492325 RCV003492129
Intrahepatic cholangiocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	rs587778046, rs876659881, rs1554089164	RCV000677787 RCV000677759 RCV000677770
Klatskin tumor	Uncertain significance	rs1554086050	RCV000677753
Lung adenocarcinoma	Uncertain significance	rs1060503301	RCV003129716
Lung cancer	Benign	rs2019720	RCV005890419
Malignant glioma	Uncertain significance	rs2149957713	RCV004776307
Malignant tumor of ascending colon	Uncertain significance	rs1060503292	RCV000677772
Malignant tumor of breast	Uncertain significance; Benign; Likely benign	rs587780598, rs149328018, rs148343173, rs374310157, rs775573115, rs752605851	RCV001354105 RCV001356436 RCV001358579 RCV001355704 RCV001357623 RCV001357893
Malignant tumor of esophagus	Benign	rs80307314	RCV005921620
Melanoma	Benign; Likely benign	rs199600387	RCV005886928
Monoclonal B-Cell Lymphocytosis	Uncertain significance	rs869025248	RCV000208573
Neoplasm of the liver	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs377278397, rs587778046, rs200593940, rs777219286, rs1554089094, rs147655929, rs754067085, rs1554084481, rs1554086098, rs1554085738	RCV000677781 RCV000677785 RCV000677778 RCV000677751 RCV000677762 RCV000677783 RCV000677744 RCV000677747 RCV000677752 RCV000677768
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs80307314, rs757683347, rs12521276	RCV005921621 RCV005912527 RCV005890422
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs73791451, rs6899169	RCV005914984 RCV005890425
Rectum adenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	rs587781464, rs756859993, rs1554087256, rs1195583636	RCV000677764 RCV000677742 RCV000677769 RCV000677771
Sarcoma	Benign; Likely benign	rs115658307	RCV005896875
Sigmoid colon cancer	Uncertain significance	rs1389311736	RCV000677740
Squamous cell carcinoma	Uncertain significance	rs2533253550	RCV003129682
Thymoma	Benign	rs80307314, rs6899169	RCV005921624 RCV005890426
Thyroid cancer, nonmedullary, 1	Benign	rs77921116	RCV005888602
Turcot syndrome with polyposis	Benign; Likely benign; Uncertain significance	rs569640184, rs1554084217	RCV005359148 RCV005357717
Uterine carcinosarcoma	Benign	rs12521276	RCV005890423
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs140001221, rs77921116, rs2019720	RCV005916418 RCV005888603 RCV005890420

Show/Hide Text Mining Associations (326)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abdominal Neoplasms	Associate	22449158, 33213169
Abdominal Pain	Associate	11247896
Aberrant Crypt Foci	Associate	29222172, 38554332
Abortion Habitual	Associate	27090446, 9207398
Abortion Spontaneous	Associate	11821094
Accessory Atrioventricular Bundle	Associate	29148535
Acth Independent Macronodular Adrenal Hyperplasia	Associate	9260769
Activated Protein C Resistance	Inhibit	20002000
Activated Protein C Resistance	Associate	25196808
Adenocarcinoma	Associate	11092973, 11819789, 12163385, 14710233, 18176357, 18831746, 19576232, 19584833, 19945765, 20179237, 20682711, 25926247, 26536055, 26991699, 28179590 View all (13 more)
Adenocarcinoma	Inhibit	21892521
Adenocarcinoma Mucinous	Associate	29793804, 38369337
Adenocarcinoma of Lung	Associate	18948947
Adenoma	Associate	10638959, 10646887, 10681434, 11315765, 11707154, 11839722, 12117880, 12163385, 12235068, 12486240, 12524418, 12740349, 15520370, 16228836, 16545110 View all (45 more)
Adenoma Islet Cell	Associate	25243122
Adenoma Liver Cell	Associate	37872280
Adenomatous Polyposis Coli	Associate	10077047, 10205208, 10363573, 10562580, 10646887, 10737795, 10749615, 10854222, 10980114, 11092973, 11238048, 11247896, 11707154, 11839722, 11867715 View all (170 more)
Adenomatous Polyposis Coli	Inhibit	15788729, 18708403, 21078161, 22799487, 28576136, 36629695
Adenomatous Polyposis Coli	Stimulate	16266238
Adenomatous Polyps	Associate	16228836, 16351465, 24675673, 31892851, 9600124
Adrenocortical Adenoma	Associate	33564960, 9950370
Adrenocortical Carcinoma	Associate	25078331, 29872083, 33564960
Alzheimer Disease	Associate	26417591, 33797837, 34440432
Aneuploidy	Associate	15623940, 16763565, 20368985, 21190457, 28576136
Angiomyolipoma	Associate	36308711
Anodontia	Associate	31243121, 32466784
Antiphospholipid Syndrome	Associate	25196808, 36012233
Appendiceal Neoplasms	Associate	30692096, 32733093, 37738316
Arrest of spermatogenesis	Associate	32614269
Arthritis Psoriatic	Associate	17491095
Astrocytoma	Associate	15367334, 29741737
Attenuated familial adenomatous polyposis	Associate	14691304, 14724162, 16253019, 16461775, 18063416, 18091433, 18176357, 19531215, 20033212, 20434453, 22180177, 22851115, 23244118, 23561487, 24169521 View all (6 more)
Autism Spectrum Disorder	Associate	39756803
Barrett Esophagus	Associate	11232646, 19584833, 26068095, 9155671
Biliary Tract Neoplasms	Associate	36243179
Blood Coagulation Disorders	Associate	15710622, 23188048, 25891444, 37733304, 39846164, 9007985
Blood Platelet Disorders	Associate	10339485
Bohring syndrome	Associate	37289003
Brain Neoplasms	Associate	24968695, 7661930
Breast Neoplasms	Associate	10555757, 10854222, 10901363, 11437404, 12492586, 17998253, 18485221, 18593979, 18708403, 18841156, 19789364, 19829046, 19921426, 20226036, 20490964 View all (27 more)
Calcinosis	Associate	37427430
Calcinosis Cutis	Associate	36308711, 36576236
Carcinogenesis	Associate	10638959, 10817505, 11920497, 12057910, 12378616, 12378619, 12387883, 16461775, 16763565, 17176113, 17704816, 17786187, 18444242, 19661324, 20345486 View all (32 more)
Carcinogenesis	Inhibit	11279192
Carcinoma Acinar Cell	Associate	11891193, 11943721, 29109526
Carcinoma Adenoid Cystic	Associate	15195113
Carcinoma Basal Cell	Associate	19448414, 30089731
Carcinoma Ductal Breast	Associate	19789364
Carcinoma Hepatocellular	Associate	12937151, 14507645, 17973119, 18161048, 19818350, 20079733, 20165882, 22180715, 24564909, 26000761, 28418032, 29865038, 34250406, 37480572, 38019243
Carcinoma Intraductal Noninfiltrating	Associate	25331261
Carcinoma Neuroendocrine	Associate	34647903
Carcinoma Non Small Cell Lung	Associate	10638959, 18337602, 19945765, 33580150, 35100078, 35988650
Carcinoma Pancreatic Ductal	Associate	24293293, 26394139, 32113160, 35205366
Carcinoma Renal Cell	Associate	35231161
Carcinoma Signet Ring Cell	Associate	31406299, 8440743
Carcinoma Squamous Cell	Associate	24715170, 7958689
Cardiac Output Low	Associate	21505584
Cayler cardiofacial syndrome	Associate	11819789
Cell Transformation Neoplastic	Associate	30803369, 38372057
Central Nervous System Diseases	Associate	9508117
Central Nervous System Neoplasms	Associate	38139220, 9508117
Cerebral Infarction	Associate	15678277, 32568648
Cerebral Infarction	Inhibit	30450637
Chemke Oliver Mallek syndrome	Associate	8733048
Cholangiocarcinoma	Associate	12213730, 15467712, 27009864
Cholangitis Sclerosing	Associate	36252869
Chromosomal Instability	Associate	12486240, 16351465, 16815967, 20696052, 23052130, 28926134
Chromosome Aberrations	Associate	30024920
Chromosome Disorders	Associate	14728717, 16763565
Chronobiology Disorders	Associate	31712236
Coagulation Protein Disorders	Associate	8164741
Colitis Ulcerative	Associate	10595736, 11920497, 9490271
Colonic Diseases	Associate	12810952, 15982419, 27462886, 28179590, 9490271, 9508117
Colonic Neoplasms	Associate	10666372, 12057910, 12524418, 15190067, 16815967, 17116713, 18444242, 18767147, 18774639, 18849522, 25885658, 26631510, 28059096, 31876604, 34790819, 35937946, 36288643, 9260769 View all (3 more)
Colonic Polyps	Associate	16228836, 22449158, 25496852, 30256815, 33740971
Colorectal Adenomatous Polyposis Autosomal Recessive	Associate	24253443, 29367705, 9950370, 9973276
Colorectal Neoplasms	Associate	10205208, 10347231, 10507776, 10555757, 10646887, 10665650, 10681434, 10705390, 10737795, 10854222, 11279192, 11707154, 11821507, 11972058, 12057910 View all (339 more)
Colorectal Neoplasms	Stimulate	28059096, 32166754
Colorectal Neoplasms	Inhibit	34676872, 36703617
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	21287799, 24278394, 25204323, 28135145, 28548127, 32102509, 32620917, 33279946, 34003820, 37306523
Common Bile Duct Diseases	Associate	33954154
Complement Component 7 Deficiency	Associate	32384877
Congenital Abnormalities	Associate	22799487
COVID 19	Associate	35014954
Craniopharyngioma	Associate	24934367
Crohn Disease	Associate	27063727, 29967250
Cysts	Associate	9176082
Death	Associate	14724162, 30811747
Depressive Disorder	Associate	10665650
Dermatitis	Associate	27769064
Dermatopathia pigmentosa reticularis	Associate	7485167
Desmoid disease hereditary	Associate	10077047, 11247896, 15542524, 17090192, 21931686, 22449158, 23561487, 26171757, 27158207, 28282712, 31591141, 32281046, 33213169, 35180772, 37318496, 8940264, 9250146, 9736021 View all (3 more)
Diabetes Gestational	Associate	36698149
Diabetes Mellitus	Associate	31591436
Diarrhea	Associate	11247896
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	12414520
Disease	Associate	10749862, 9786256
Drug Related Side Effects and Adverse Reactions	Associate	19661324
Duodenitis	Associate	12057910, 29901124, 32770675
Duodenitis	Inhibit	15623495
Dysplastic Nevus Syndrome	Associate	32543103
Dystonic Disorders	Associate	17595655, 17962810
Early Onset Glaucoma	Associate	35066881, 37270516
Ectodermal Dysplasia	Associate	11891193
Endometrial Neoplasms	Associate	28440489, 31450893, 36745477
Enteritis	Associate	35901658
Epidermal Cyst	Associate	29901124
Epidermodysplasia Verruciformis	Associate	37427430
Epilepsy Post Traumatic	Associate	37733304
Epstein Barr Virus Infections	Associate	20978327
Esophageal Neoplasms	Associate	1565631, 19448414, 7958689, 8509434
Esophageal Squamous Cell Carcinoma	Associate	19448414, 25514805
Esophageal Squamous Cell Carcinoma	Inhibit	29866946, 30350313
Esthesioneuroblastoma Olfactory	Associate	29324814
Eye Infections Fungal	Associate	9176082
Factor V Deficiency	Associate	11564076, 15043529, 7780127, 9067500
Factor V Deficiency	Inhibit	16359508
Factors VIII IX And XI Combined Deficiency of	Associate	15043529
Familial antiphospholipid syndrome	Associate	12518722, 21406411, 9886165
Familial cylindromatosis	Associate	27067780
Familial medullary thyroid carcinoma	Associate	26530882
Fetal Diseases	Associate	9207398
Fibroma Desmoplastic	Associate	22411068, 24664543
Fibroma Ossifying	Associate	24664543
Fibromatosis Aggressive	Associate	25074465, 25174682, 27062580, 31591141, 37119251, 9250146, 9736021
Flatfoot	Associate	9744312
Gallbladder Diseases	Associate	26643927
Gallbladder Neoplasms	Associate	25066711, 26715268
Gardner Syndrome	Associate	1339098, 22411068, 25074465, 33213169, 33787608, 34725446, 7485167
Gastro enteropancreatic neuroendocrine tumor	Associate	26684240
Gastrointestinal Diseases	Associate	12057910
Gastrointestinal Neoplasms	Associate	1565631, 29307989
Genetic Diseases Inborn	Associate	38492821, 7661930
Genetic Diseases Inborn	Stimulate	39182046
Glaucoma Open Angle	Associate	34348663
Glioblastoma	Associate	26191234, 37400829
Glomerulonephritis Membranoproliferative	Associate	18433509
Glomerulonephritis Membranous	Inhibit	36588134
Graft vs Host Disease	Associate	29535719
Growth Disorders	Associate	15213719
Heart Diseases	Associate	10749862
HELLP Syndrome	Associate	29563339
Hemangioendothelioma Epithelioid	Associate	31577358
Hemophilia A	Associate	17059471, 29884816
Hemorrhage	Associate	17059471, 17255099, 36935364
Hemorrhage	Inhibit	30450637
Hemorrhagic Fever American	Associate	25514805
Hemostatic Disorders	Associate	20214832, 21869933
Hemostatic Disorders	Inhibit	30125997
Hepatoblastoma	Associate	11896079, 17962810, 9038672
Hereditary Breast and Ovarian Cancer Syndrome	Associate	10901363, 11437404, 21279955, 23637229, 30306255
HIV Infections	Associate	24023646
Hyperprothrombinemia	Associate	17461930
Hypertension	Associate	32013702
Hyperthyroidism	Associate	37876543
Hypoxia	Inhibit	21502812
Ichthyosis prematurity syndrome	Associate	9207398
Immunologic Deficiency Syndromes	Associate	10942390, 30125997, 32102509
Infant Newborn Diseases	Associate	25204207
Infertility Male	Associate	32614269
Inflammation	Inhibit	16354200, 17255099, 21044954, 22193922, 23389250, 25204207, 25891444, 36935364
Inflammation	Associate	29535719, 40281443
Inflammatory Bowel Diseases	Associate	12057910, 32229654
Inflammatory Bowel Diseases	Inhibit	26764183
Inflammatory Breast Neoplasms	Associate	18841156, 19829046
Insulinoma	Associate	39536727
Intellectual Disability	Associate	39756803
Intestinal Diseases	Associate	20345486, 31876604, 32669593
Intestinal Neoplasms	Associate	18425817, 24704829
Intestinal Polyposis	Associate	11867715, 12010888, 1325652, 15083190, 21287799, 22851115, 23561487, 24675673, 25204323, 25604157, 26446593, 29367705, 31527860, 33827469, 8213830, 9445111 View all (1 more)
Intestinal Polyps	Associate	33525395
Intracranial Hemorrhages	Inhibit	30450637
Juvenile polyposis syndrome	Associate	32533343, 9060832
Keratoacanthoma	Associate	26319365
Keratosis	Associate	26319365
Kidney Neoplasms	Associate	27725787
Laron Syndrome	Associate	26407953
Lentigo	Associate	15257316
Leukemia	Associate	23733339, 29518763
Leukemia Lymphocytic Chronic B Cell	Associate	20863567
Leukemia Lymphoma Adult T Cell	Associate	15623561, 24871945
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	23707389, 37096864
Leukemia Myeloid Acute	Associate	27374082
Leukemia Plasma Cell	Associate	35389550
Leukemia T Cell	Associate	28105931
Li Fraumeni Syndrome	Associate	32191290
Liposarcoma Myxoid	Associate	31702654
Lung Neoplasms	Associate	31182981, 34257703
Lupus Erythematosus Systemic	Associate	12555213
Lymphatic Metastasis	Associate	15257316, 22695536, 24205493, 26900293, 27706614, 31723073, 38019243
Lymphatic Metastasis	Inhibit	17242701
Lymphoma Large B Cell Diffuse	Associate	11756145
Lymphoma Non Hodgkin	Associate	32883742, 36805791, 37400829, 9490271
Marfan Syndrome	Associate	32961817
Medulloblastoma	Associate	10666372, 29753700, 30523493, 32056145, 36181537, 7661930
Melanoma	Associate	10699468, 15257316, 35552752, 36739402, 38246221
Melanoma Cutaneous Malignant	Associate	18211945, 32483240
Meningeal Neoplasms	Associate	32711494
Meningioma	Associate	29518763, 31470906
Mental Disorders	Associate	39756803
Mesothelioma	Associate	29518763
Metabolic Syndrome	Associate	38246221
Microsatellite Instability	Associate	12163385, 12499439, 20696052, 33037134, 33087131
Mixed Tumor Malignant	Associate	28059096, 37285266
Mosaic variegated aneuploidy syndrome	Associate	15623561
Mouth Neoplasms	Associate	20450124, 29037125
Multiple Endocrine Neoplasia Type 1	Associate	32706863
Multiple Myeloma	Associate	27655696, 35389550
Multiple Organ Failure	Associate	16420659
Multiple Organ Failure	Inhibit	25204207
Myoepithelioma	Associate	11896079
Myxoma	Associate	37059229
Nasopharyngeal Carcinoma	Associate	20473931, 27769064
Nasopharyngeal Neoplasms	Associate	8224661
Neoplasm Invasiveness	Associate	27398792
Neoplasm Metastasis	Associate	12782759, 15257316, 24197976, 25545608, 25928476, 27983523, 28939077, 30029640, 30811747, 31341365, 32711494, 33655327, 34281583, 34909835, 34967562 View all (5 more)
Neoplasm Recurrence Local	Associate	34326338
Neoplasms	Inhibit	10347231, 10737795, 11260864, 11500377, 11943708, 12610503, 12907143, 1347643, 14501508, 14514668, 15190067, 15327769, 1565631, 16569251, 16815967 View all (81 more)
Neoplasms	Associate	10562580, 10749615, 10911381, 10934143, 10980114, 11215281, 11720476, 11821507, 11891193, 11896079, 11920497, 11943721, 12060769, 12173321, 12456890 View all (221 more)
Neoplasms Squamous Cell	Associate	25115387
Neoplastic Cells Circulating	Associate	29565466
Neoplastic Syndromes Hereditary	Associate	1565631, 20510605, 33525650, 37800450, 8537055
Neuroendocrine Tumors	Associate	32706863, 39536727
Niemann Pick Disease Type C	Associate	35389550
Non alcoholic Fatty Liver Disease	Associate	16270394
Obesity	Associate	26945992
Optic Neuropathy Ischemic	Associate	15043529
Oral Submucous Fibrosis	Associate	38050610
Osteosarcoma	Associate	17786187
Ovarian Neoplasms	Associate	24078348, 29793804, 33560870, 33571724
Ovarian Neoplasms	Stimulate	26082331
Pancreatic carcinoma familial	Associate	12173321
Pancreatic Intraductal Neoplasms	Associate	12171972
Pancreatic Neoplasms	Associate	11943721, 20056645, 24293293, 24534469, 25479140, 26394139, 29961768, 30811747, 32113160, 35205366, 36629695, 36896836
Pancreatitis	Associate	16420659
Pancreatoblastoma	Associate	11891193, 11943721
Papillomavirus Infections	Associate	23534709, 27706614
Parathyroid Neoplasms	Associate	20208994, 21078161
Pediatric Obesity	Associate	36935364
Peripheral Vascular Diseases	Associate	9786256
Peritonitis	Associate	32166754
Personality Disorders	Associate	32281046, 36499743
Pheochromocytoma	Associate	15796198
Placental Insufficiency	Associate	9207398
Pleural Effusion Malignant	Associate	18055295
Polypoidal Choroidal Vasculopathy	Associate	9490271, 9744312
Polyposis Gastric	Associate	27087319, 31591141
Polyposis Of Gastric Fundus Without Polyposis Coli	Associate	10980114, 11238048, 12414520, 14724162, 15494708, 32543103, 36805791
Polyposis Syndrome Hereditary Mixed 1	Associate	16545110, 26863316, 38238650, 9724771
Polyps	Associate	12057910, 12414520, 16228836, 16461775, 22449158, 22851115, 24169521, 25590978, 25604157, 27609830, 28010732, 29453410, 30012100, 30256815, 30852976, 33525395, 9060832, 9585611, 9724771 View all (4 more)
Postthrombotic Syndrome	Associate	25069814
Precancerous Conditions	Associate	21857949, 27391059
Prodromal Symptoms	Associate	31900123
Prostatic Intraepithelial Neoplasia	Associate	16446401
Prostatic Neoplasms	Associate	16446401, 21694441, 21830905, 22672250, 24651255, 24769028, 26860439, 27898031, 29660369, 30339521, 30373654, 31115550, 31134918, 31605802, 34581895, 35131873, 35347810, 36922933 View all (3 more)
Prostatic Neoplasms Castration Resistant	Associate	29206995, 29330943, 30620391, 32268276, 35131873, 36973255
Prostatitis	Associate	15292941, 16446401, 26860439
Protein C Deficiency	Associate	23389250
Protein S Deficiency	Associate	16961607
Pseudomyxoma Peritonei	Associate	29936255, 30692096
Pulmonary Disease Chronic Obstructive	Inhibit	30350313
Pulmonary Disease Chronic Obstructive	Associate	35438040
Rectal Diseases	Associate	11247896, 37387515
Rectal Neoplasms	Associate	10749615, 11720476, 23534709, 26134512, 30577807, 35970919
Renal Insufficiency	Associate	16420659
Respiratory Tract Infections	Associate	12057910
Retinal Diseases	Associate	7485167, 8733048
Retinal Dysplasia	Associate	12414520, 12740349, 15494708, 19584833, 36805791, 7835579, 9490271
Retinal Vein Occlusion	Associate	21511556
Retinoblastoma	Associate	36342106
Salivary Duct Calculi	Associate	32929114
Salivary Gland Neoplasms	Associate	20520817
Sarcoma Ewing	Associate	31702654
Sebaceous gland hyperplasia familial presenile	Associate	17273161
Seminoma	Associate	22068818
Sepsis	Associate	15710622
Sepsis	Inhibit	17255099
Short Bowel Syndrome	Associate	11247896
Sick Sinus Syndrome	Stimulate	22986510
Sinus Thrombosis Intracranial	Associate	9328253
Small Cell Lung Carcinoma	Associate	30224629, 33880365
Soft Tissue Injuries	Inhibit	36935364
Somatoform Disorders	Associate	36342106
Spinal Cord Injuries	Inhibit	25204207
Spinocerebellar Degenerations	Associate	26305864, 26336987, 35937946
Squamous Cell Carcinoma of Head and Neck	Associate	25147921, 27706614, 32113465
Stiff Skin Syndrome	Associate	32013702
Stomach Diseases	Associate	15494708, 15962383, 25210923
Stomach Neoplasms	Associate	10605402, 12378616, 15942635, 15962383, 20205286, 20978327, 23049225, 23131390, 24197976, 24861525, 25210923, 25656989, 27566570, 28039579, 28076475 View all (7 more)
Stomach Neoplasms	Inhibit	30593147
Stomatitis	Associate	27769064
Tertiary Lymphoid Structures	Associate	27983523
Testicular Neoplasms	Associate	22068818
Thromboembolism	Associate	14675088
Thromboinflammation	Associate	37733304
Thrombophilia	Associate	12221665, 12492586, 12518722, 17456626, 20002000, 21511556, 21869933, 29374276
Thrombophilia due to Activated Protein C Resistance	Inhibit	20501981
Thrombosis	Associate	10419879, 12010798, 14976057, 16138341, 16270394, 17456626, 21511556, 23389250, 24723678, 26699866, 28405673, 32781781, 36012233, 7780127, 8034625 View all (5 more)
Thrombosis	Inhibit	31314700
Thymus Neoplasms	Associate	37749819
Thyroid cancer medullary	Associate	29518763
Thyroid Cancer Papillary	Associate	10363573, 31758407, 32024448
Thyroid Neoplasms	Associate	10363573, 11092973, 28410400, 32024448, 38165228, 9916927
Tomaculous neuropathy	Associate	8798478
Tooth Supernumerary	Inhibit	35397562
Trauma Nervous System	Inhibit	30450637
Turcot syndrome	Associate	10666372, 27978560, 28548127, 32620917, 33279946, 36360190, 7661930, 9508117
Urachal cancer	Associate	27178450, 32754865
Urethral Neoplasms	Associate	21533174, 30064409, 7669581
Urinary Bladder Neoplasms	Associate	17404085, 21599969, 30064409, 40603329, 7669581
Uterine Cervical Dysplasia	Associate	26643927, 32533343
Uterine Cervical Neoplasms	Inhibit	17242701
Uterine Cervical Neoplasms	Associate	20208141, 29079964, 29115417
Uterine Cervicitis	Associate	20208141, 29079964
Vascular Diseases	Inhibit	32382091
Vascular Diseases	Associate	34873055
Vascular Malformation Primary Intraosseous	Associate	32113465
Vascular System Injuries	Associate	17170365
VATER association	Associate	36243179
Venous Thromboembolism	Associate	10444192, 12884202, 22044617, 25196808, 31314700, 39846164, 9269773, 9698021
Venous Thromboembolism	Inhibit	15257714, 32781781
Venous Thrombosis	Associate	10419879, 12884202, 14675088, 14976057, 16359508, 16917913, 17461930, 24951429, 27090446, 32781781, 7888671, 8164741, 9067500, 9136971, 9183305, 9454742, 9698021, 9886165, 9949170 View all (4 more)
Venous Thrombosis	Inhibit	15978106
Wilms Tumor	Associate	35436013
Wounds and Injuries	Inhibit	37733304
Wounds and Injuries	Associate	9698021

APC (APC regulator of Wnt signaling pathway)