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

128

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (40)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Adenomatous colonic polyposis	Pathogenic	rs121913224, rs1057518901	RCV000626570 RCV000415316	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ADENOMATOUS POLYPOSIS COLI WITH CONGENITAL CHOLESTEATOMA	Pathogenic	rs121913224	RCV000000858	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
APC associated polyposis	Pathogenic	rs62619935	RCV006436434	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
APC-Associated Polyposis Disorders	Pathogenic	rs137854580, rs121913332, rs1554080106, rs1554074772	RCV003483421 RCV001824661 RCV005420208 RCV003330781	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
APC-related attenuated familial adenomatous polyposis	Pathogenic	rs587779783, rs876658846	RCV001824606 RCV004992098	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atypical endometrial hyperplasia	Pathogenic	rs863225357	RCV003327380	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRAIN TUMOR-POLYPOSIS SYNDROME 2	Pathogenic	rs137854572, rs137854577	RCV000000844 RCV000000854	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (89 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cervical cancer	Likely pathogenic; Pathogenic	rs761458613	RCV005895181	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (57 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma	Pathogenic; Likely pathogenic	rs137854573, rs121913224, rs570514864, rs1114167569, rs1554085246, rs1211642532, rs397515734	RCV005887147 RCV000677780 RCV005931158 RCV005899749 RCV006254078 RCV005901168 RCV006253727 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colonic neoplasm	Pathogenic	rs1060503333	RCV001643225	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colorectal cancer, susceptibility to	Likely pathogenic; Pathogenic	rs137854568, rs137854573, rs137854575, rs387906234, rs869312753	RCV000210154 RCV000210172 RCV000210151 RCV000210178 RCV000210089	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Craniopharyngioma	Pathogenic	rs587779352	RCV000722012	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Desmoid tumor	Likely pathogenic; Pathogenic	rs398123122	RCV000722013	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Duodenal polyposis	Pathogenic	rs121913224	RCV000626570	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (1898 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial colorectal cancer	Pathogenic	rs79512956, rs74953290	RCV000073620 RCV000073865	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (136 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gardner syndrome	Likely pathogenic; Pathogenic	rs137854568, rs137854569, rs137854570, rs387906234, rs121913224, rs387906236, rs137854580, rs137854582, rs137854583	RCV000000835 RCV000000836 RCV000000837 RCV000000849 RCV000000857 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric adenocarcinoma and proximal polyposis of the stomach	Pathogenic; Likely pathogenic	rs587779783, rs137854575, rs879253783, rs879253784, rs879253782	RCV001824606 RCV003137694 RCV001290975 RCV001290976 RCV006249621	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Pathogenic	rs587781694, rs137854571, rs137854573, rs2149813944, rs1310024982, rs1764704274, rs1304970506, rs2533719406, rs2533669824, rs1114167596, rs1554086196, rs1270783041	RCV003162574 RCV000000840 RCV003162203 RCV003164556 RCV003164557 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric polyposis	Pathogenic	rs121913224	RCV000626570	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatoblastoma	Pathogenic	rs2149898263, rs137854578	RCV001843902 RCV000000859	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic; Likely pathogenic	rs62619935, rs587781392, rs137854573, rs137854575, rs397514032, rs786201856, rs863225311, rs876660765, rs397515734, rs1554085355	RCV000763536 RCV000763535 RCV000763541 RCV000763542 RCV000000883 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (928 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperplastic colonic polyposis	Pathogenic	rs121913224	RCV000626570	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited polyposis and early onset colorectal cancer - germline testing	Pathogenic; Likely pathogenic	rs587779780, rs137854572, rs730882135, rs775126020, rs1554074772, rs1554071617	RCV005055068 RCV006436373 RCV006436685 RCV004692773 RCV006438291 RCV005055130 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intestinal polyp	Pathogenic	rs121913224	RCV000626570	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of pancreas	Pathogenic	rs587783031	RCV005049571	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of unknown origin	Pathogenic	rs1554085190	RCV006255175	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs863225370	RCV005898517	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Medulloblastoma WNT activated	Pathogenic	rs79122263	RCV006254149	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (44 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm of stomach	Pathogenic; Likely pathogenic	rs62619935, rs587781392, rs137854573, rs137854575, rs786201856, rs863225311, rs876660765, rs397515734, rs1554085355	RCV000763536 RCV000763535 RCV000763541 RCV000763542 RCV000763538 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian cancer	Likely pathogenic	rs750174880, rs138410865	RCV003154741 RCV003154758	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Periampullary adenoma	Pathogenic; Likely pathogenic	rs387906234, rs879253785	RCV000000850 RCV000000851 RCV004020914	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (88)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, MACROCYTIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attenuated familial adenomatous polyposis	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast cancer, susceptibility to	association; Conflicting classifications of pathogenicity; risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast carcinoma	association; Conflicting classifications of pathogenicity; risk factor; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cancer or benign tumor	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENANI-LENZ SYNDACTYLY SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENANI-LENZ SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon cancer	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal adenoma	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESMOID TUMOR CAUSED BY SOMATIC MUTATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESMOID TUMORS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse midline glioma, H3 K27-altered	Conflicting classifications of pathogenicity; association; risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duodenal adenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial carcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL HEMORRHAGE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal stromal tumor	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal stromal tumor of small intestine	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIAS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIAS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL POLYPS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrahepatic cholangiocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Klatskin tumor	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYNCH SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant glioma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of ascending colon	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEDULLOBLASTOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MISMATCH REPAIR CANCER SYNDROME 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monoclonal B-Cell Lymphocytosis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm of the liver	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rectum adenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sigmoid colon cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLENIC DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPLENOMEGALY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY CENANI LENZ TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TURCOT SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Turcot syndrome with polyposis	Benign; Likely benign; Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

APC (APC regulator of Wnt signaling pathway)