MSH6 (mutS homolog 6)

Gene

• Entrez ID: 2956
• Gene name: MutS homolog 6
• Gene symbol: MSH6
• Synonyms (NCBI Gene): GTBP, GTMBP, HNPCC5, HSAP, LYNCH5, MMRCS3, MSH-6, p160
• Chromosome: 2
• Chromosome location: 2p16.3
• Summary: This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800937	C>A,G,T	Pathogenic, benign	Synonymous variant, 5 prime UTR variant, coding sequence variant, stop gained
rs1800938	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	5 prime UTR variant, coding sequence variant, missense variant
rs3136334	C>A,G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs3136351	G>A,C,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Synonymous variant, coding sequence variant
rs3211299	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	5 prime UTR variant, coding sequence variant, intron variant, missense variant
rs34014629	C>A,G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, 5 prime UTR variant, upstream transcript variant, genic upstream transcript variant
rs34374438	A>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs34938432	G>A,C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs41294984	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, 5 prime UTR variant, upstream transcript variant, genic upstream transcript variant
rs41557217	A>C,G	Benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, 5 prime UTR variant, synonymous variant
rs61748083	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs61753793	T>C	Benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs61754783	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs63749821	TA>-,TATA	Pathogenic	Coding sequence variant, frameshift variant, stop gained, inframe indel
rs63749843	C>A,G,T	Likely-benign, pathogenic	Coding sequence variant, missense variant, synonymous variant, stop gained
rs63749873	C>G	Pathogenic	Coding sequence variant, stop gained, intron variant, 5 prime UTR variant
rs63749874	AAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs63749919	A>C,G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs63749938	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs63749942	CGT>-	Likely-pathogenic, pathogenic	Coding sequence variant, inframe deletion
rs63749973	G>A,T	Pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63749980	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, synonymous variant, coding sequence variant, stop gained, 5 prime UTR variant
rs63749999	C>T	Pathogenic	Coding sequence variant, stop gained
rs63750019	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, synonymous variant, coding sequence variant, stop gained, 5 prime UTR variant
rs63750075	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750111	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs63750119	G>A,T	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs63750138	C>A,G,T	Likely-benign, likely-pathogenic, pathogenic, uncertain-significance, benign-likely-benign	Coding sequence variant, missense variant, synonymous variant
rs63750140	C>T	Pathogenic	Coding sequence variant, stop gained
rs63750194	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750196	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750253	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs63750258	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63750296	->A	Pathogenic	Coding sequence variant, frameshift variant
rs63750304	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs63750342	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant, 5 prime UTR variant
rs63750356	C>T	Pathogenic	Coding sequence variant, stop gained
rs63750357	->ATTA	Pathogenic	Coding sequence variant, frameshift variant
rs63750377	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750439	AT>-,ATAT	Pathogenic	Coding sequence variant, frameshift variant
rs63750442	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs63750523	->AACTTG	Likely-pathogenic	Coding sequence variant, inframe insertion
rs63750552	G>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs63750554	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63750563	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs63750564	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs63750617	C>G,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs63750647	CCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs63750664	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs63750731	->T	Pathogenic	Coding sequence variant, frameshift variant
rs63750735	AAAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750741	T>C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs63750753	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs63750832	C>A,G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63750833	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750854	->TG	Pathogenic	Coding sequence variant, frameshift variant
rs63750904	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750909	C>A,G,T	Pathogenic, likely-benign, uncertain-significance	Coding sequence variant, missense variant, synonymous variant, stop gained
rs63750940	CTCCTGGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750949	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs63750955	->T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs63750985	C>A,G,T	Likely-benign, likely-pathogenic, pathogenic	Coding sequence variant, stop gained, synonymous variant, missense variant
rs63750996	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs63750998	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs63751005	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Coding sequence variant, missense variant
rs63751009	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs63751017	C>A,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs63751058	T>G	Pathogenic	Coding sequence variant, stop gained
rs63751077	C>A,G	Pathogenic	Coding sequence variant, stop gained, intron variant, 5 prime UTR variant
rs63751090	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs63751097	T>A	Pathogenic	Coding sequence variant, stop gained
rs63751113	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs63751127	C>A,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant
rs63751167	->GTGA	Pathogenic	Coding sequence variant, frameshift variant
rs63751234	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs63751321	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63751327	->A,AA	Pathogenic	Coding sequence variant, frameshift variant
rs63751328	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs63751405	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs63751407	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs63751410	GA>-	Pathogenic	Coding sequence variant, stop gained
rs63751419	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs63751427	CTG>-,CTGCTG	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe deletion, inframe insertion
rs63751442	C>T	Pathogenic	Coding sequence variant, stop gained
rs71539659	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs75095286	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs142254875	C>G,T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs143036974	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	5 prime UTR variant, coding sequence variant, intron variant, missense variant
rs143520357	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs145959653	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant
rs146469162	A>C,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant, intron variant
rs146816935	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs147453999	A>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs147737737	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs147852216	G>A	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs149945495	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs150440246	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs182024561	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs182871847	T>A,C	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs188252826	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs191109849	C>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs193922343	AGAA>-,AGAAAAGAA,AGAAAGAA	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs200492211	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs200938360	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201080919	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs201096652	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201518545	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs202127474	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs267608026	G>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs267608035	G>A,T	Likely-pathogenic	Intron variant, splice acceptor variant
rs267608036	T>A	Pathogenic	Intron variant, splice donor variant
rs267608037	AG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant
rs267608041	A>-,AA	Likely-pathogenic, pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs267608042	TT>-	Pathogenic	Coding sequence variant, stop gained
rs267608046	G>T	Pathogenic	Coding sequence variant, stop gained
rs267608048	C>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs267608049	TC>AG	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs267608050	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs267608055	T>A,C,G	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs267608056	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs267608057	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs267608058	TCAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs267608059	G>T	Pathogenic	Coding sequence variant, stop gained
rs267608062	->G,GGG	Pathogenic	Coding sequence variant, 5 prime UTR variant, inframe insertion, frameshift variant
rs267608063	->A	Pathogenic	Coding sequence variant, frameshift variant
rs267608064	AAAA>-,AA	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs267608065	GT>-	Pathogenic	Coding sequence variant, stop gained
rs267608066	C>G,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, missense variant
rs267608068	T>A,G	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs267608072	TG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs267608073	AAG>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe deletion
rs267608076	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs267608077	AGAGA>-	Pathogenic	Coding sequence variant, stop gained
rs267608078	C>-,CC,CCC	Pathogenic	Coding sequence variant, frameshift variant
rs267608079	GC>AA	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs267608082	TG>-	Pathogenic	Coding sequence variant, stop gained
rs267608083	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant
rs267608084	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs267608085	CTAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs267608086	G>T	Pathogenic	Coding sequence variant, stop gained
rs267608088	->T	Pathogenic	Coding sequence variant, frameshift variant
rs267608090	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs267608091	->T	Pathogenic	Coding sequence variant, frameshift variant
rs267608092	TT>-,T,TTT	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs267608095	->T	Pathogenic	Coding sequence variant, stop gained
rs267608096	G>A	Likely-pathogenic	Splice donor variant
rs267608098	A>G,T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant
rs267608099	AGTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs267608101	->GTTT	Pathogenic	Coding sequence variant, frameshift variant
rs267608106	GGTA>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant
rs267608111	A>C	Pathogenic	Splice acceptor variant
rs267608112	TAACAG>-	Likely-pathogenic	Intron variant, splice acceptor variant
rs267608114	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs367758473	C>G,T	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs367912290	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs372916347	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs373129248	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs374230313	C>A,G,T	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs374748889	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant
rs375459388	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs376243329	C>A,T	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs376799914	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs377722465	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs397515875	G>A,C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs397839804	TGTGTGTGTGTG>-,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG	Conflicting-interpretations-of-pathogenicity	Intron variant
rs398123230	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs398123231	C>A,G,T	Likely-benign, likely-pathogenic, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs398123232	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs544222338	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs555209664	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs559125434	C>A,T	Pathogenic, likely-benign	Synonymous variant, stop gained, coding sequence variant
rs565211544	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant
rs567785169	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs572336612	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant, missense variant
rs576269342	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs587776705	GTG>-	Pathogenic	Coding sequence variant, inframe indel
rs587776706	->T	Pathogenic	Coding sequence variant, frameshift variant
rs587778528	C>T	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, intron variant, missense variant, coding sequence variant
rs587778531	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs587779203	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779204	T>C	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587779206	ATGAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779207	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs587779208	T>A	Pathogenic	Missense variant, coding sequence variant
rs587779209	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779212	C>A,T	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs587779215	C>A,G,T	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs587779216	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779217	->T	Pathogenic	Stop gained, coding sequence variant
rs587779218	TC>G	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs587779219	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779220	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587779221	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant
rs587779226	->CT	Pathogenic	Coding sequence variant, frameshift variant
rs587779227	G>A	Pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587779228	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587779231	T>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587779232	T>A	Pathogenic	Stop gained, coding sequence variant
rs587779234	G>A	Pathogenic	Stop gained, coding sequence variant
rs587779237	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779241	->T	Pathogenic	Stop gained, coding sequence variant
rs587779243	GATT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779244	TCT>C	Pathogenic	Coding sequence variant, frameshift variant
rs587779245	T>A	Pathogenic	Stop gained, coding sequence variant
rs587779246	C>A,G,T	Pathogenic, likely-benign	Missense variant, synonymous variant, coding sequence variant, stop gained
rs587779247	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779250	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779251	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779252	G>A	Pathogenic	Stop gained, coding sequence variant
rs587779253	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs587779254	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587779255	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs587779256	GA>-	Pathogenic, likely-pathogenic	Coding sequence variant, splice acceptor variant
rs587779258	->T	Pathogenic	Coding sequence variant, frameshift variant
rs587779259	GAGCTTA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779260	->C	Pathogenic	Coding sequence variant, frameshift variant
rs587779263	G>T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Splice acceptor variant
rs587779264	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs587779267	G>T	Pathogenic	Stop gained, coding sequence variant
rs587779273	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs587779274	TGCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779279	G>A	Pathogenic	Splice acceptor variant
rs587779285	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587779287	GTACATTATTTTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs587779288	->ATTA	Pathogenic	Coding sequence variant, frameshift variant
rs587779289	->A	Pathogenic	Coding sequence variant, frameshift variant
rs587779291	TATGGTATGTGCAAATTGTTTTTTTCCACA>-	Pathogenic	Intron variant, inframe deletion, splice donor variant, coding sequence variant
rs587779315	A>G,T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, stop gained
rs587779318	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs587779319	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587779320	->T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs587779778	A>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587779914	G>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs587779923	G>A,C,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs587779926	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs587779935	C>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587779936	->ACCA	Pathogenic	Coding sequence variant, frameshift variant
rs587779941	AAAG>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587779945	AG>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587779948	G>A,T	Pathogenic, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant, stop gained
rs587780538	G>A	Pathogenic	Stop gained, coding sequence variant
rs587780559	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs587780670	->A	Pathogenic	Coding sequence variant, frameshift variant
rs587781372	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs587781408	T>A,C	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs587781462	C>A,G,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587781544	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs587781609	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs587781650	->T	Pathogenic	Coding sequence variant, frameshift variant
rs587781659	->C	Pathogenic	Coding sequence variant, frameshift variant
rs587781691	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587781983	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs587782101	C>G,T	Pathogenic, uncertain-significance	Intron variant, missense variant, 5 prime UTR variant, stop gained, coding sequence variant
rs587782111	->A	Pathogenic	Stop gained, coding sequence variant
rs587782172	AGGTGGGACACGGCAAG>-	Pathogenic	5 prime UTR variant, intron variant, splice donor variant, coding sequence variant
rs587782277	->A	Pathogenic	Coding sequence variant, frameshift variant
rs587782281	T>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587782331	C>G,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs587782386	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587782562	->ATGA	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs587782593	A>C,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs587782625	C>A,G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587782638	TT>-,TTT	Pathogenic	Coding sequence variant, frameshift variant
rs587782706	G>A,C,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs587782712	AAGAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587782805	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs587782809	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs587782862	G>-	Pathogenic	Stop gained, coding sequence variant
rs587783056	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs730881787	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs730881793	G>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs730881796	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs730881802	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, uncertain-significance	Synonymous variant, coding sequence variant
rs730881813	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, intron variant, missense variant, coding sequence variant
rs730881815	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs730881816	C>A,G	Pathogenic	Stop gained, coding sequence variant
rs730881817	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs730881819	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs730881820	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs730881825	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs730881826	->T	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs730881827	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs730881828	->AC	Pathogenic	Coding sequence variant, frameshift variant
rs730881829	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs745483465	T>A,G	Pathogenic	Stop gained, coding sequence variant
rs746306598	C>G,T	Likely-benign, likely-pathogenic	Synonymous variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, coding sequence variant, upstream transcript variant
rs747802641	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, missense variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, upstream transcript variant
rs750528093	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs752404604	->AACA	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs753796271	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs754469538	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs756043669	G>C,T	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs756569687	A>C,G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs758830540	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs761037236	C>A,G,T	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs762089407	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, coding sequence variant
rs762814792	C>G,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs763702846	T>A,C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant
rs765411990	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs765763906	G>A,C,T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs765873566	G>A,C	Likely-benign, likely-pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs766905993	C>G	Pathogenic	Coding sequence variant, stop gained
rs767021188	T>A,C	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs767064953	A>C,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs768444916	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant
rs770992427	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs772363120	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs773226008	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs773262801	->GAAT	Pathogenic	Coding sequence variant, stop gained
rs773807182	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs773955368	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs774162322	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, intron variant, missense variant
rs777159874	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs778555956	->T	Pathogenic	Coding sequence variant, stop gained
rs779617676	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs781280171	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs781520783	CTTTT>-	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs781572949	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs786201042	C>G,T	Pathogenic-likely-pathogenic, pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, stop gained, missense variant, upstream transcript variant
rs786201049	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs786201050	->G	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs786201084	->T	Pathogenic	Frameshift variant, coding sequence variant
rs786202108	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs786202193	TTTTTTGATGACAG>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, intron variant
rs786202336	TGGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs786202363	A>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs786202848	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs786203331	->AGTA	Pathogenic	Frameshift variant, coding sequence variant
rs786203597	A>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, intron variant
rs786203712	->C	Pathogenic	Frameshift variant, coding sequence variant
rs786203924	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs786203968	A>C,G,T	Pathogenic, likely-benign, uncertain-significance	Stop gained, coding sequence variant, missense variant, synonymous variant
rs786204048	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs786204252	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs863224473	C>G,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs863224474	->T	Pathogenic	Coding sequence variant, stop gained
rs863224475	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs863224476	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs863224614	T>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs863224615	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, upstream transcript variant
rs863224829	AGTA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs863225398	GAT>AA	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs863225399	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863225400	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225401	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs863225402	G>C	Likely-pathogenic, pathogenic	Splice acceptor variant, intron variant
rs863225403	TG>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs863225404	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs863225406	CT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs863225408	ACTTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225409	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863225412	CTACCATTCATTAGTAGAAGATTATTCTCA>-	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, inframe deletion
rs863225421	->G	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs864622041	T>C	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs864622153	C>A,G,T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, missense variant
rs864622257	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs864622435	G>T	Pathogenic	Coding sequence variant, stop gained
rs864622585	GGTAA>T	Pathogenic	Frameshift variant, coding sequence variant
rs864622607	T>G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs868760377	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs869040863	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs869312769	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs869312770	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs876658296	CCAGGCCCTTGGC>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant, upstream transcript variant
rs876658397	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs876658604	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs876658650	ATT>-,ATTATT	Likely-pathogenic, uncertain-significance	Coding sequence variant, inframe insertion, inframe deletion
rs876658728	->T	Pathogenic	Frameshift variant, coding sequence variant
rs876658848	GTGACATTAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs876658864	TGGCCCT>GG	Pathogenic	Frameshift variant, coding sequence variant
rs876658881	->A	Pathogenic	Frameshift variant, coding sequence variant
rs876659189	->T,TT	Pathogenic	Frameshift variant, coding sequence variant, stop gained
rs876660037	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs876660095	G>A,C,T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, 5 prime UTR variant, missense variant, upstream transcript variant, initiator codon variant
rs876660283	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs876660386	TC>ATTA	Pathogenic	Frameshift variant, coding sequence variant
rs876660549	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs876660630	TTAAGTCTA>-	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs876660853	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs876660943	G>T	Likely-pathogenic	Coding sequence variant, splice donor variant, missense variant
rs876661025	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs876661033	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs876661044	ATATATCCAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs876661073	->T	Pathogenic	Frameshift variant, coding sequence variant
rs876661125	G>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, splice donor variant, intron variant
rs876661193	->AGCATTGGCTTTGTGCCCCACTCTGTAACCA	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs876661205	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs876661222	->ATTA	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs876661251	CAGAACTTTGATCT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs878853702	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs878853704	T>A,C,G	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs878853709	->C	Pathogenic	Frameshift variant, coding sequence variant
rs878853711	GGTTG>CTTCTACCTCAAAAA	Pathogenic	Frameshift variant, coding sequence variant
rs878853716	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs878853717	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, intron variant, missense variant, upstream transcript variant
rs878853718	C>T	Pathogenic	Coding sequence variant, stop gained
rs878853721	CT>-	Pathogenic	Coding sequence variant, stop gained
rs878853729	->G	Pathogenic	Frameshift variant, coding sequence variant
rs878853736	->AAAAT	Pathogenic	Coding sequence variant, stop gained
rs886041913	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs886056144	G>A,T	Affects, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs891318615	->AAGTA	Pathogenic	Coding sequence variant, frameshift variant
rs928923556	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1021631442	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1023534466	TAAA>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, intron variant
rs1033749344	T>C	Likely-pathogenic, uncertain-significance	Splice donor variant
rs1046304919	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, 5 prime UTR variant, synonymous variant
rs1054003194	GGG>-,GG,GGGG	Pathogenic	Inframe deletion, coding sequence variant, frameshift variant
rs1057517551	->T	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, initiator codon variant
rs1057517552	GTCCTATG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517763	T>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs1057517764	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1057520605	G>A,C,T	Uncertain-significance, pathogenic	5 prime UTR variant, missense variant, coding sequence variant, stop gained
rs1057524912	->T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, intron variant
rs1060502875	TT>-,TTT	Likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, intron variant
rs1060502876	G>A	Pathogenic	Coding sequence variant, stop gained
rs1060502881	GAATT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060502882	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060502886	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060502888	CA>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1060502890	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060502891	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060502892	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1060502901	T>G	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1060502902	G>A,T	Uncertain-significance, pathogenic	Intron variant, 5 prime UTR variant, missense variant, coding sequence variant, stop gained
rs1060502918	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060502926	G>A,C,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1060502932	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060502940	AG>-	Pathogenic	Coding sequence variant, stop gained
rs1060502941	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1060502946	->AA	Pathogenic	Coding sequence variant, frameshift variant
rs1064793183	C>-,CC	Pathogenic	Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant
rs1064793185	GAAACGCCCTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793489	G>-	Likely-pathogenic, pathogenic	Splice donor variant, coding sequence variant
rs1064793600	CTT>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Inframe deletion, coding sequence variant
rs1064793671	C>G	Pathogenic	Coding sequence variant, stop gained
rs1064794028	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794055	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794075	TA>AG	Likely-pathogenic, pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant, intron variant
rs1064794164	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794302	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs1064794384	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794388	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794943	A>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs1064795256	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs1064795591	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1064795629	G>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1064795790	GAGGATTTCCTCAATTCTTGTA>TCATC	Pathogenic	Coding sequence variant, frameshift variant
rs1064795960	G>T	Pathogenic	Coding sequence variant, stop gained
rs1114167689	C>G	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, intron variant
rs1114167690	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1114167692	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, intron variant
rs1114167694	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167695	AAG>GAT	Likely-pathogenic	Coding sequence variant, stop gained
rs1114167696	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1114167697	G>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1114167702	CA>-	Pathogenic	Inframe indel, coding sequence variant, stop gained
rs1114167703	ATCCTTAAGCAGG>TCTAAA	Pathogenic	Coding sequence variant, frameshift variant
rs1114167704	AG>-	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1114167705	A>AA,TC	Pathogenic	Coding sequence variant, frameshift variant
rs1114167706	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1114167707	A>T	Pathogenic	Coding sequence variant, stop gained
rs1114167708	->AGTGG	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1114167709	C>T	Pathogenic	Coding sequence variant, stop gained
rs1114167712	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1114167714	C>-	Pathogenic	Coding sequence variant, stop gained
rs1114167715	GGAACAGACTGAGA>AGC	Pathogenic	Coding sequence variant, frameshift variant
rs1114167717	->TAGC	Pathogenic	Coding sequence variant, stop gained
rs1114167718	TGC>GGAA	Pathogenic	Coding sequence variant, frameshift variant
rs1114167719	G>C,T	Uncertain-significance, pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, upstream transcript variant, stop gained
rs1114167721	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167723	G>C,T	Likely-pathogenic	Splice acceptor variant
rs1114167724	G>T	Pathogenic	Coding sequence variant, stop gained
rs1114167725	A>G	Likely-pathogenic, pathogenic	Splice acceptor variant, intron variant
rs1114167728	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, intron variant
rs1114167731	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs1114167733	TTGATCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167734	G>A,C	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, upstream transcript variant
rs1114167740	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1114167746	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1114167747	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167748	CTGTCA>TTCG	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1114167749	GG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167750	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167751	T>-	Pathogenic	Coding sequence variant, stop gained
rs1114167755	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167756	C>T	Pathogenic	Coding sequence variant, stop gained
rs1114167757	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167761	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1114167763	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs1114167765	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167766	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167767	C>-	Pathogenic	Coding sequence variant, stop gained
rs1114167770	ACAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167771	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167773	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167774	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167776	->T	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, intron variant
rs1114167781	TTGATAAAAATTACA>AT	Pathogenic	Coding sequence variant, frameshift variant
rs1114167782	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167786	CTGGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167791	C>A,G,T	Likely-benign, uncertain-significance, pathogenic	Synonymous variant, missense variant, coding sequence variant, stop gained
rs1114167793	G>T	Pathogenic	Coding sequence variant, stop gained
rs1114167794	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant
rs1114167800	GG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1114167801	AAAGA>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1114167804	A>T	Pathogenic	Coding sequence variant, stop gained
rs1175196087	->GT	Pathogenic	Coding sequence variant, frameshift variant
rs1230092559	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1244531716	T>A	Pathogenic	Missense variant, coding sequence variant
rs1251033858	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1269788253	->CT,T	Likely-pathogenic	Splice donor variant
rs1276159036	A>C,G,T	Pathogenic, uncertain-significance	5 prime UTR variant, intron variant, coding sequence variant, missense variant, stop gained
rs1315445200	G>-,GG,GGG	Pathogenic	Coding sequence variant, frameshift variant
rs1316409501	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1322095633	G>A,T	Uncertain-significance, likely-pathogenic	Intron variant, 5 prime UTR variant, missense variant, coding sequence variant, stop gained
rs1324100572	TAGAGTGTTTA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1333555322	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1432436629	A>C,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1473648816	->GAAC	Pathogenic	5 prime UTR variant, coding sequence variant, intron variant, frameshift variant
rs1482228994	T>A,C	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs1553331242	A>C,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1553331290	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553331304	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1553331337	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553331366	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553331378	CC>A,T	Pathogenic	Frameshift variant, coding sequence variant
rs1553331434	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553331454	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1553331659	A>-,AA	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1553331665	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553331676	GCCTATTGTGTGCTTGTTACTGGACCAAATATGGGGGGCAAGTCTACGCTTATGAGACAGGTAAC>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1553331722	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553331760	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553332151	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553332166	C>G,T	Uncertain-significance, pathogenic, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1553332228	TTGATAGAGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553332297	CAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553332312	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553332622	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553332639	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1553332671	G>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1553332733	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553332768	->G	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1553332772	G>T	Likely-pathogenic	Splice donor variant
rs1553332776	T>C	Likely-pathogenic	Splice donor variant
rs1553332996	->AATAGCAAATGCAGTTGTTAAAGAACTTG	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1553333017	->T	Pathogenic	Stop gained, coding sequence variant
rs1553333031	->AGAACTT	Pathogenic	Frameshift variant, coding sequence variant
rs1553333072	->ATTT	Pathogenic	Frameshift variant, coding sequence variant
rs1553333078	->CTACCATTCA	Pathogenic	Frameshift variant, coding sequence variant
rs1553333093	GTAGAAGATTA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553333127	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553333164	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553333168	TATGGTATGTGCA>-	Pathogenic, likely-pathogenic	Splice donor variant, intron variant, frameshift variant, coding sequence variant
rs1553333175	GTATG>-	Likely-pathogenic	Splice donor variant, intron variant, frameshift variant, coding sequence variant
rs1553333185	G>-	Likely-pathogenic	Splice donor variant, frameshift variant, coding sequence variant
rs1553408068	G>-	Uncertain-significance, pathogenic	Upstream transcript variant, frameshift variant, genic upstream transcript variant, initiator codon variant, 5 prime UTR variant
rs1553408127	G>-	Likely-pathogenic	Upstream transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1553408136	->G	Pathogenic	Upstream transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1553408158	G>-	Pathogenic	Upstream transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1553408245	->CTTCCCCA	Likely-pathogenic	Upstream transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1553408267	->AGCGAGGCTGGGCCTGG	Pathogenic	Upstream transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1553408306	C>-	Pathogenic	Upstream transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1553408380	TCAACGGAGGGCTGCGGAGATCGGTAGCGCCTGCTGCCCCCACC>-	Likely-pathogenic	Upstream transcript variant, splice donor variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553408388	G>T	Pathogenic	Stop gained, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1553408413	->GATCGGTAGCGCCTGCTGCCCC	Pathogenic	Upstream transcript variant, splice donor variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553408467	G>C	Likely-pathogenic	Splice donor variant, intron variant, upstream transcript variant, genic upstream transcript variant
rs1553408469	T>A	Likely-pathogenic	Splice donor variant, intron variant, upstream transcript variant, genic upstream transcript variant
rs1553408474	A>C,G	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, intron variant, upstream transcript variant
rs1553410230	C>A,T	Likely-benign, likely-pathogenic	Stop gained, synonymous variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553410300	AATCAGTCC>T	Pathogenic	5 prime UTR variant, intron variant, frameshift variant, coding sequence variant
rs1553410342	G>-	Pathogenic	5 prime UTR variant, intron variant, frameshift variant, coding sequence variant
rs1553411391	C>G	Pathogenic	5 prime UTR variant, intron variant, stop gained, coding sequence variant
rs1553411392	->AA	Pathogenic	5 prime UTR variant, intron variant, frameshift variant, coding sequence variant
rs1553411409	->T	Pathogenic	5 prime UTR variant, intron variant, frameshift variant, coding sequence variant
rs1553411419	CTGA>-	Pathogenic	5 prime UTR variant, intron variant, frameshift variant, coding sequence variant
rs1553412041	GGCA>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, splice acceptor variant
rs1553412064	G>-	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs1553412090	AGATA>TAC	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1553412120	->C	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1553412129	CA>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1553412283	->T	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1553412289	->A	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1553412294	AG>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1553412397	C>G,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1553412409	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553412441	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1553412495	A>C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1553412502	->GAAACTTTAGAATGGCTTAAGGAGGAAAAGAGAAGAGATGAGCACAGGAGGAGGCCTGATC	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1553412609	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553412649	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553412696	TC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553412720	C>G,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1553412735	T>-	Pathogenic	Stop gained, coding sequence variant
rs1553412755	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1553412804	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553412824	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553412835	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553412851	GTAGCA>CG	Pathogenic	Frameshift variant, coding sequence variant
rs1553412912	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553412960	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553412966	->A	Pathogenic	Stop gained, coding sequence variant
rs1553413006	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553413074	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553413116	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553413138	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553413178	G>T	Pathogenic	Stop gained, coding sequence variant
rs1553413200	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553413253	C>G,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1553413294	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553413305	G>T	Pathogenic	Stop gained, coding sequence variant
rs1553413348	A>-	Pathogenic	Stop gained, coding sequence variant
rs1553413424	C>-	Pathogenic	Stop gained, coding sequence variant
rs1553413470	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553413599	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553413640	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553413663	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553413673	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1553413693	->GC	Pathogenic	Frameshift variant, coding sequence variant
rs1553413710	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1553413717	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553413732	->AGAC	Pathogenic	Frameshift variant, coding sequence variant
rs1553413784	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1553413844	C>-	Pathogenic	Stop gained, coding sequence variant
rs1553413897	CA>-	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1553413985	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1553414010	AAAA>-,AAAAA	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1553414022	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553414029	CC>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1553414058	TTGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553414092	->TA	Pathogenic	Frameshift variant, coding sequence variant
rs1553414102	->T	Pathogenic	Stop gained, coding sequence variant
rs1553414131	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553414239	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553414395	C>A,G,T	Likely-benign, pathogenic, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1553414488	AGGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553414498	ATGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553414519	GT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1553414544	AGGACTG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553414578	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1558386797	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1558387361	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1558390582	A>T	Likely-pathogenic	Splice acceptor variant
rs1558392033	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558392228	TTCAACTCACTACCATTCATTAGTAGAAGATTATT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558392265	->CACT	Pathogenic	Frameshift variant, coding sequence variant
rs1558392617	T>C	Likely-pathogenic	Splice donor variant, coding sequence variant, missense variant
rs1558644683	GC>CT	Pathogenic	Stop gained, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1558644886	AC>-	Pathogenic	Upstream transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1558644995	C>-	Pathogenic	Upstream transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1558645195	CTGGGCCCAGGCCC>-	Pathogenic	Upstream transcript variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1558656674	AATTGGCAG>-	Likely-pathogenic	5 prime UTR variant, intron variant, coding sequence variant, inframe deletion
rs1558658971	CTAAGACACAAGGATC>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1558658980	ACACAAG>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1558659056	->T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs1558659265	->G	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1558659626	CTG>T	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1558659699	AA>-	Pathogenic	5 prime UTR variant, frameshift variant, initiator codon variant, coding sequence variant
rs1558660612	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558661308	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1558661368	->CAAA	Pathogenic	Frameshift variant, coding sequence variant
rs1558661380	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558661873	AAAGATGGCACATATATCCAAGTATGATA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558662873	T>A	Pathogenic	Stop gained, coding sequence variant
rs1558663559	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1558663954	GGAGAGAAAAGTGAATTGGCCCTCTCTGCTCTAGGTGGTTGTGTCTTCTACCTCAAAAAATGCCTTATTGATCAGGAGCTTTTATCAATGGCTAATTTTGAAGAATATATTCCCTTGGATTCTGACAC>TTGT	Pathogenic	Frameshift variant, coding sequence variant
rs1558664251	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1558664335	->ATA	Likely-pathogenic	Stop gained, coding sequence variant
rs1558664474	GTCAGCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558664787	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1558665297	G>T	Pathogenic	Stop gained, coding sequence variant
rs1558666177	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1558666905	G>T	Pathogenic	Stop gained, coding sequence variant
rs1558667222	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558668156	TTCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558668258	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1572697714	GACAGAGC>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, upstream transcript variant, genic upstream transcript variant
rs1572698011	GCCGCTGCCCC>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, upstream transcript variant, genic upstream transcript variant
rs1572708580	GCCAAGATGG>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant, initiator codon variant
rs1572708636	T>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, intron variant
rs1572716371	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, stop gained
rs1572716454	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, intron variant
rs1572716545	G>A	Likely-pathogenic	Splice donor variant, intron variant
rs1572719776	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1572719974	CAGCCTA>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1572720016	CC>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1572720192	->C	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1572720288	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1572720562	->C	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1572720704	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1572720794	A>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1572721251	->TG	Pathogenic	Coding sequence variant, stop gained
rs1572721655	->TGGTATC	Pathogenic	Coding sequence variant, frameshift variant
rs1572722017	->CACTCTA	Pathogenic	Coding sequence variant, frameshift variant
rs1572722039	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572722080	->GA	Pathogenic	Coding sequence variant, frameshift variant
rs1572722732	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572722737	G>A	Pathogenic	Coding sequence variant, stop gained
rs1572723270	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572723640	->T	Pathogenic	Coding sequence variant, stop gained
rs1572723723	GAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572723786	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572724019	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1572724689	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1572725235	CT>-	Pathogenic	Coding sequence variant, stop gained
rs1572725436	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572725461	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572725803	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572726178	TAGATGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572726309	C>-	Pathogenic	Coding sequence variant, stop gained
rs1572726468	->AGAGA	Pathogenic	Coding sequence variant, frameshift variant
rs1572727163	GCTTCTAAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572727176	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572727440	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572727797	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1572728039	A>T	Pathogenic	Coding sequence variant, stop gained
rs1572728112	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572728472	G>A	Pathogenic	Coding sequence variant, stop gained
rs1572728785	T>G	Pathogenic	Coding sequence variant, stop gained
rs1572728898	G>T	Pathogenic	Coding sequence variant, stop gained
rs1572728922	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572729033	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572729161	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1572730002	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1572730021	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1572730065	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1572730270	A>T	Pathogenic	Coding sequence variant, stop gained
rs1572735072	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1572735157	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572735220	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1572735943	->AT	Pathogenic	Coding sequence variant, frameshift variant
rs1572736122	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572736128	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1572738533	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572738865	TAC>AT	Pathogenic	Coding sequence variant, frameshift variant
rs1572739043	C>G	Pathogenic	Coding sequence variant, stop gained
rs1572739119	AGTTT>-	Likely-pathogenic	Intron variant
rs1572741984	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572742114	->TGTGGATGAATTAG	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs1572745084	->AAGA	Pathogenic	Coding sequence variant, frameshift variant
rs1572745157	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572745322	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1572745360	A>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000459	hsa-miR-155-5p	Luciferase reporter assay, Western blot, Northern blot	20351277
MIRT005430	hsa-miR-21-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21078976
MIRT005430	hsa-miR-21-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21078976
MIRT016477	hsa-miR-193b-3p	Microarray	20304954
MIRT023763	hsa-miR-1-3p	Proteomics	18668040
MIRT024435	hsa-miR-215-5p	Microarray	19074876
MIRT026596	hsa-miR-192-5p	Microarray	19074876
MIRT050169	hsa-miR-26a-5p	CLASH	23622248
MIRT046243	hsa-miR-23b-3p	CLASH	23622248
MIRT044304	hsa-miR-106b-5p	CLASH	23622248
MIRT043139	hsa-miR-324-5p	CLASH	23622248
MIRT042967	hsa-miR-324-3p	CLASH	23622248
MIRT042692	hsa-miR-196b-5p	CLASH	23622248
MIRT041744	hsa-miR-484	CLASH	23622248
MIRT039671	hsa-miR-615-3p	CLASH	23622248
MIRT039671	hsa-miR-615-3p	CLASH	23622248
MIRT037190	hsa-miR-877-3p	CLASH	23622248
MIRT656139	hsa-miR-7849-3p	HITS-CLIP	23824327
MIRT656140	hsa-miR-300	HITS-CLIP	23824327
MIRT656138	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT656137	hsa-miR-4666a-3p	HITS-CLIP	23824327
MIRT656136	hsa-let-7a-3p	HITS-CLIP	23824327
MIRT656135	hsa-let-7b-3p	HITS-CLIP	23824327
MIRT656134	hsa-let-7f-1-3p	HITS-CLIP	23824327
MIRT656133	hsa-miR-98-3p	HITS-CLIP	23824327
MIRT656132	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT656131	hsa-let-7f-2-3p	HITS-CLIP	23824327
MIRT656130	hsa-miR-1185-1-3p	HITS-CLIP	23824327
MIRT656129	hsa-miR-1185-2-3p	HITS-CLIP	23824327
MIRT656128	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT656127	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT656126	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT656125	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT656124	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT088832	hsa-miR-409-3p	PAR-CLIP	20371350
MIRT561867	hsa-miR-383-5p	PAR-CLIP	20371350
MIRT088836	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT088831	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT088835	hsa-miR-548at-5p	PAR-CLIP	20371350
MIRT088833	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT566735	hsa-miR-33a-3p	PAR-CLIP	20371350
MIRT088837	hsa-miR-5694	PAR-CLIP	20371350
MIRT353446	hsa-miR-1250-3p	PAR-CLIP	20371350
MIRT353445	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT353448	hsa-miR-4427	PAR-CLIP	20371350
MIRT353451	hsa-miR-5187-3p	PAR-CLIP	20371350
MIRT353450	hsa-miR-4680-3p	PAR-CLIP	20371350
MIRT088838	hsa-miR-6755-3p	PAR-CLIP	20371350
MIRT566734	hsa-miR-4288	PAR-CLIP	20371350
MIRT566733	hsa-miR-632	PAR-CLIP	20371350
MIRT566732	hsa-miR-1231	PAR-CLIP	20371350
MIRT561867	hsa-miR-383-5p	PAR-CLIP	20371350
MIRT088836	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT088831	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT088835	hsa-miR-548at-5p	PAR-CLIP	20371350
MIRT088833	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT088837	hsa-miR-5694	PAR-CLIP	20371350
MIRT353446	hsa-miR-1250-3p	PAR-CLIP	20371350
MIRT353445	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT447976	hsa-miR-548u	PAR-CLIP	22100165
MIRT447975	hsa-miR-7161-5p	PAR-CLIP	22100165
MIRT447974	hsa-miR-8087	PAR-CLIP	22100165
MIRT447973	hsa-miR-4475	PAR-CLIP	22100165
MIRT447971	hsa-miR-4318	PAR-CLIP	22100165
MIRT447972	hsa-miR-892a	PAR-CLIP	22100165
MIRT447970	hsa-miR-4635	PAR-CLIP	22100165
MIRT447969	hsa-miR-7515	PAR-CLIP	22100165
MIRT447968	hsa-miR-3179	PAR-CLIP	22100165
MIRT447967	hsa-miR-4693-5p	PAR-CLIP	22100165
MIRT447966	hsa-miR-6126	PAR-CLIP	22100165
MIRT447965	hsa-miR-6864-5p	PAR-CLIP	22100165
MIRT656139	hsa-miR-7849-3p	HITS-CLIP	23824327
MIRT656140	hsa-miR-300	HITS-CLIP	23824327
MIRT656138	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT656137	hsa-miR-4666a-3p	HITS-CLIP	23824327
MIRT656136	hsa-let-7a-3p	HITS-CLIP	23824327
MIRT656135	hsa-let-7b-3p	HITS-CLIP	23824327
MIRT656134	hsa-let-7f-1-3p	HITS-CLIP	23824327
MIRT656133	hsa-miR-98-3p	HITS-CLIP	23824327
MIRT656132	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT656131	hsa-let-7f-2-3p	HITS-CLIP	23824327
MIRT656130	hsa-miR-1185-1-3p	HITS-CLIP	23824327
MIRT656129	hsa-miR-1185-2-3p	HITS-CLIP	23824327
MIRT656128	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT656127	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT656126	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT656125	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT656124	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT088832	hsa-miR-409-3p	PAR-CLIP	20371350
MIRT561867	hsa-miR-383-5p	PAR-CLIP	20371350
MIRT088836	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT088831	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT088835	hsa-miR-548at-5p	PAR-CLIP	20371350
MIRT088833	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT566735	hsa-miR-33a-3p	PAR-CLIP	20371350
MIRT088837	hsa-miR-5694	PAR-CLIP	20371350
MIRT353446	hsa-miR-1250-3p	PAR-CLIP	20371350
MIRT353445	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT353448	hsa-miR-4427	PAR-CLIP	20371350
MIRT353451	hsa-miR-5187-3p	PAR-CLIP	20371350
MIRT353450	hsa-miR-4680-3p	PAR-CLIP	20371350
MIRT088838	hsa-miR-6755-3p	PAR-CLIP	20371350
MIRT566734	hsa-miR-4288	PAR-CLIP	20371350
MIRT566733	hsa-miR-632	PAR-CLIP	20371350
MIRT566732	hsa-miR-1231	PAR-CLIP	20371350
MIRT561867	hsa-miR-383-5p	PAR-CLIP	20371350
MIRT088836	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT088831	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT088835	hsa-miR-548at-5p	PAR-CLIP	20371350
MIRT088833	hsa-miR-561-3p	PAR-CLIP	20371350
MIRT088837	hsa-miR-5694	PAR-CLIP	20371350
MIRT353446	hsa-miR-1250-3p	PAR-CLIP	20371350
MIRT353445	hsa-miR-153-5p	PAR-CLIP	20371350
MIRT447976	hsa-miR-548u	PAR-CLIP	22100165
MIRT447975	hsa-miR-7161-5p	PAR-CLIP	22100165
MIRT447974	hsa-miR-8087	PAR-CLIP	22100165
MIRT447973	hsa-miR-4475	PAR-CLIP	22100165
MIRT447971	hsa-miR-4318	PAR-CLIP	22100165
MIRT447972	hsa-miR-892a	PAR-CLIP	22100165
MIRT447970	hsa-miR-4635	PAR-CLIP	22100165
MIRT447969	hsa-miR-7515	PAR-CLIP	22100165
MIRT447968	hsa-miR-3179	PAR-CLIP	22100165
MIRT447967	hsa-miR-4693-5p	PAR-CLIP	22100165
MIRT447966	hsa-miR-6126	PAR-CLIP	22100165
MIRT447965	hsa-miR-6864-5p	PAR-CLIP	22100165
MIRT1161222	hsa-miR-2115	CLIP-seq
MIRT1161223	hsa-miR-330-3p	CLIP-seq
MIRT1161224	hsa-miR-888	CLIP-seq
MIRT2046266	hsa-miR-561	CLIP-seq
MIRT1161222	hsa-miR-2115	CLIP-seq
MIRT1161223	hsa-miR-330-3p	CLIP-seq
MIRT1161224	hsa-miR-888	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP3	Activation	14585961

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	16403449
GO:0000400	Function	Four-way junction DNA binding	IDA	12034830
GO:0000710	Process	Meiotic mismatch repair	ISS
GO:0000785	Component	Chromatin	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003684	Function	Damaged DNA binding	IEA
GO:0003690	Function	Double-stranded DNA binding	IDA	11809883
GO:0005515	Function	Protein binding	IPI	8942985, 9774676, 10856833, 11005803, 11801590, 14657349, 16403449, 19377479, 25241761, 26300262, 26496610, 33961781, 34591612, 35271311
GO:0005524	Function	ATP binding	IDA	15105434
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	26300262
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006281	Process	DNA repair	IDA	8942985
GO:0006281	Process	DNA repair	IEA
GO:0006298	Process	Mismatch repair	IBA
GO:0006298	Process	Mismatch repair	IDA	10871409, 17715146, 23622243
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	IGI	23603115
GO:0006298	Process	Mismatch repair	IMP	8782829
GO:0006325	Process	Chromatin organization	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IDA	16403449
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008340	Process	Determination of adult lifespan	ISS
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	ISS
GO:0009411	Process	Response to UV	IEA
GO:0009411	Process	Response to UV	ISS
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IEA
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	ISS
GO:0016447	Process	Somatic recombination of immunoglobulin gene segments	IEA
GO:0016447	Process	Somatic recombination of immunoglobulin gene segments	ISS
GO:0019899	Function	Enzyme binding	IPI	26300262
GO:0030983	Function	Mismatched DNA binding	IBA
GO:0030983	Function	Mismatched DNA binding	IDA	8942985, 11756455, 11801590
GO:0030983	Function	Mismatched DNA binding	IDA	23622243
GO:0030983	Function	Mismatched DNA binding	IEA
GO:0032137	Function	Guanine/thymine mispair binding	IDA	8942985, 11809883
GO:0032137	Function	Guanine/thymine mispair binding	IEA
GO:0032142	Function	Single guanine insertion binding	IDA	8942985
GO:0032143	Function	Single thymine insertion binding	IDA	8942985
GO:0032301	Component	MutSalpha complex	IBA
GO:0032301	Component	MutSalpha complex	IDA	8942985, 23622243
GO:0032301	Component	MutSalpha complex	IEA
GO:0032301	Component	MutSalpha complex	IPI	17531815
GO:0032357	Function	Oxidized purine DNA binding	IDA	11756455, 11801590
GO:0032405	Function	MutLalpha complex binding	IDA	16403449
GO:0042803	Function	Protein homodimerization activity	IPI	8942985
GO:0043531	Function	ADP binding	IDA	15105434
GO:0043570	Process	Maintenance of DNA repeat elements	IMP	16388310
GO:0045190	Process	Isotype switching	IEA
GO:0045190	Process	Isotype switching	ISS
GO:0045910	Process	Negative regulation of DNA recombination	IDA	17715146
GO:0045910	Process	Negative regulation of DNA recombination	IEA
GO:0045910	Process	Negative regulation of DNA recombination	IEA
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IEA
GO:0097193	Process	Intrinsic apoptotic signaling pathway	ISS
GO:0140003	Function	Histone H3K36me3 reader activity	IDA	23622243
GO:0140664	Function	ATP-dependent DNA damage sensor activity	IEA

Other IDs

• MIM: 600678
• HGNC: 7329
• e!Ensembl: ENSG00000116062

Protein

• UniProt ID: P52701
• Protein name: DNA mismatch repair protein Msh6 (hMSH6) (G/T mismatch-binding protein) (GTBP) (GTMBP) (MutS protein homolog 6) (MutS-alpha 160 kDa subunit) (p160)
• Protein function: Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 2
• PDB: 2GFU, 2O8B, 2O8C, 2O8D, 2O8E, 2O8F, 6OQM, 8AG6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00855	PWWP	90 → 184	PWWP domain	Domain
  PF01624	MutS_I	407 → 526	MutS domain I	Domain
  PF05188	MutS_II	537 → 703	MutS domain II	Domain
  PF05192	MutS_III	738 → 1064	MutS domain III	Domain
  PF05190	MutS_IV	932 → 1024	MutS family domain IV	Domain
  PF00488	MutS_V	1130 → 1324	MutS domain V	Domain

• Sequence:

  MSRQSTLYSFFPKSPALSDANKASARASREGGRAAAAPGASPSPGGDAAWSEAGPGPRPL
  ARSASPPKAKNLNGGLRRSVAPAAPTSCDFSPGDLVWAKMEGYPWWPCLVYNHPFDGTFI
  REKGKSVRVHVQFFDDSPTRGWVSKRLLKPYTGSKSKEAQKGGHFYSAKPEILRAMQRAD
  EALNKDKIKRLELAVCDEPSEPEEEEEMEVGTTYVTDKSEEDNEIESEEEVQPKTQGSRR
  SSRQIKKRRVISDSESDIGGSDVEFKPDTKEEGSSDEISSGVGDSESEGLNSPVKVARKR
  KRMVTGNGSLKRKSSRKETPSATKQATSISSETKNTLRAFSAPQNSESQAHVSGGGDDSS
  RPTVWYHETLEWLKEEKRRDEHRRRPDHPDFDASTLYVPEDFLNSCTPGMRKWWQIKSQN
  FDLVICYKVGKFYELYHMDALIGVSELGLVFMKGNWAHSGFPEIAFGRYSDSLVQKGYKV
  ARVEQTETPEMMEARCRKMAHISKYDRVVRREICRIITKGTQTYSVLEGDPSENYSKYLL
  SLKEKEEDSSGHTRAYGVCFVDTSLGKFFIGQFSDDRHCSRFRTLVAHYPPVQVLFEKGN
  LSKETKTILKSSLSCSLQEGLIPGSQFWDASKTLRTLLEEEYFREKLSDGIGVMLPQVLK
  GMTSESDSIGLTPGEKSELALSALGGCVFYLKKCLIDQELLSMANFEEYIPLDSDTVSTT
  RSGAIFTKAYQRMVLDAVTLNNLEIFLNGTNGSTEGTLLERVDTCHTPFGKRLLKQWLCA
  PLCNHYAINDRLDAIEDLMVVPDKISEVVELLKKLPDLERLLSKIHNVGSPLKSQNHPDS
  RAIMYEETTYSKKKIIDFLSALEGFKVMCKIIGIMEEVADGFKSKILKQVISLQTKNPEG
  RFPDLTVELNRWDTAFDHEKARKTGLITPKAGFDSDYDQALADIRENEQSLLEYLEKQRN
  RIGCRTIVYWGIGRNRYQLEIPENFTTRNLPEEYELKSTKKGCKRYWTKTIEKKLANLIN
  AEERRDVSLKDCMRRLFYNFDKNYKDWQSAVECIAVLDVLLCLANYSRGGDGPMCRPVIL
  LPEDTPPFLELKGSRHPCITKTFFGDDFIPNDILIGCEEEEQENGKAYCVLVTGPNMGGK
  STLMRQAGLLAVMAQMGCYVPAEVCRLTPIDRVFTRLGASDRIMSGESTFFVELSETASI
  LMHATAHSLVLVDELGRGTATFDGTAIANAVVKELAETIKCRTLFSTHYHSLVEDYSQNV
  AVRLGHMACMVENECEDPSQETITFLYKFIKGACPKSYGFNAARLANLPEEVIQKGHRKA
  REFEKMNQSLRLFREVCLASERSTVDAEAVHKLLTLIKEL

• Sequence length: 1360

Pathways

KEGG:

Platinum drug resistance
Mismatch repair
Pathways in cancer
Colorectal cancer

Reactome:

Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
Defective Mismatch Repair Associated With MSH2
Defective Mismatch Repair Associated With MSH6

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Breast Cancer	Malignant tumor of breast	rs63751319, rs587779315, rs267608041, rs63750617	N/A
Breast Carcinoma	breast carcinoma	rs1114167702, rs1553333072, rs63750617, rs63751017	N/A
colorectal cancer	Colorectal cancer	rs267608083	N/A
Colorectal Neoplasms	hereditary nonpolyposis colorectal neoplasms	rs878853721, rs1558668156, rs1572747837, rs267608058, rs876661171, rs1558645195, rs587779295, rs1060502940, rs1572723640, rs587779914, rs63749942, rs63750019, rs63750985, rs869312770, rs1553414102, rs1553332776, rs1057520605, rs63750194, rs1064793489, rs1553413424, rs267608122, rs193922343, rs1553413178, rs1114167794, rs864622041, rs1553413599, rs1553332671, rs1572747278, rs63750138, rs1558661380, rs1114167765, rs587780538, rs63751058, rs786203924, rs876661205, rs1572746025, rs63751407, rs1060502918, rs63751328, rs1553333127, rs1669287624, rs267608042, rs1060502932, rs267608050, rs1572720562, rs1553333497, rs63750564, rs1553332312, rs587779264, rs1553412649, rs63751321, rs267608121, rs777159874, rs1060502946, rs267608064, rs267608118, rs1060502926, rs1553332166, rs1558668258, rs267608086, rs1064793600, rs267608035, rs587779221, rs1553412966, rs1114167728, rs1572739043, rs63750617, rs1553414395, rs1572746382, rs63750563, rs63751327, rs1064795629, rs878853702, rs745483465, rs587779246, rs786201042, rs1553331454, rs1553413784, rs63750140, rs878853742, rs63750854, rs863224476, rs1553333168, rs587779263, rs876660630, rs1669493890, rs63749843, rs1553333421, rs1114167748, rs878853704, rs765873566, rs367758473, rs1668118988, rs1473648816, rs1572720704, rs398123232, rs1553333615, rs1572729161, rs786201049, rs1553333175, rs587779250, rs765763906, rs863225399, rs1572727176, rs587782638, rs267608078, rs1060502882, rs1553333707, rs1558393006, rs786201084, rs1023534466, rs1572735943, rs1553408158, rs878853729, rs863224473, rs1553412129, rs876660095, rs1558658971, rs587782706, rs1669441162, rs587779256, rs587779215, rs200492211, rs267608083, rs267608057, rs1572746488, rs587782562, rs1553414131, rs267608092, rs1553412960, rs587781691, rs1553332151, rs63749873, rs587782277, rs1553413655, rs63750832, rs863225402, rs1558662873, rs1669760609, rs730881815, rs1668692410, rs267608076, rs1114167706, rs1007311950, rs267608111, rs587779315, rs1114167724, rs71539659, rs864622607, rs1114167723, rs1057517764, rs863225400, rs1553333635, rs587779267, rs1064794943, rs761037236, rs1114167747, rs1060502881, rs587779923, rs587779206, rs1558394104, rs1553413663, rs1553411419, rs63751405, rs1558393070, rs63751442, rs1558661368, rs267608127, rs1669445829, rs1572725436, rs1114167692, rs63749973, rs1572727440, rs1553414519, rs1064794384, rs1572722737, rs1553333530, rs864622435, rs1553413732, rs63750940, rs878853745, rs1553333700, rs1064794164, rs1572747685, rs876659189, rs267608120, rs1669874125, rs587779253, rs63750075, rs864622153, rs730881829, rs1114167801, rs587779313, rs267608059, rs1060502876, rs1276159036, rs587779231, rs876661073, rs1553410230, rs267608055, rs63750735, rs1553333644, rs1114167719, rs1114167707, rs786203968, rs1553412502, rs587782712, rs1553333301, rs1553412755, rs1558644683, rs146816935, rs1572738865, rs1553408136, rs398123231, rs1054003194, rs1553331676, rs1064795256, rs1572716545, rs876658296, rs1558663954, rs1669451548, rs1114167793, rs766905993, rs63750904, rs1553331337, rs786204048, rs863225412, rs1553411391, rs1553333500, rs1572728039, rs786203597, rs1553333633, rs1114167714, rs1553414488, rs1553414022, rs863225421, rs587779235, rs876660283, rs1558392033, rs1670044220, rs1060502890, rs63751427, rs1553333598, rs63750554, rs587779204, rs1114167763, rs587781544, rs1669058948, rs1114167717, rs267608128, rs1669354866, rs63750833, rs1060502901, rs778555956, rs63750955, rs1175196087, rs750528093, rs587779318, rs1553333605, rs891318615, rs63750258, rs876660853, rs587779241, rs1553333438, rs878853709, rs1553333738, rs1553332622, rs1553413116, rs863224829, rs876660549, rs1558390582, rs1060502937, rs1572725803, rs587779936, rs1114167725, rs1553412064, rs587779219, rs863225408, rs587779274, rs1572728112, rs587782281, rs1553331242, rs587782326, rs587780670, rs1670120965, rs1558665297, rs1553414578, rs753796271, rs1669059418, rs267608041, rs1572716371, rs1553412609, rs1572745157, rs587779232, rs1669364351, rs1114167790, rs267608082, rs1114167705, rs863225403, rs1553333449, rs587779301, rs1114167709, rs1553412495, rs587781462, rs1558658980, rs1553333164, rs1558394336, rs1553412824, rs1572739097, rs63751127, rs1558392228, rs267608126, rs1114167750, rs1669467747, rs1553413710, rs397515875, rs1553408467, rs267608066, rs267608098, rs1572727797, rs587779227, rs730881816, rs1060504739, rs267608073, rs1060502885, rs1572723723, rs1553332297, rs1114167783, rs587779285, rs765411990, rs767021188, rs886044911, rs63750909, rs1432436629, rs1572708580, rs267608065, rs876660943, rs1060502903, rs63750119, rs1416452389, rs1114167804, rs1553331665, rs1572730002, rs876661025, rs1553413305, rs730881830, rs1669245178, rs63749999, rs1572719776, rs1669365820, rs1553412720, rs587779778, rs1553332996, rs1114167776, rs1553408388, rs1114167782, rs869312769, rs1553331722, rs1572720192, rs1553414010, rs63750139, rs63750439, rs1558659056, rs1553413294, rs63749821, rs1553412397, rs63750741, rs63750356, rs1064795591, rs746306598, rs876658881, rs1669486855, rs1572726309, rs587779941, rs587779288, rs786201050, rs876661033, rs1553331228, rs730881825, rs1060502941, rs863225409, rs1114167755, rs1553333072, rs587779220, rs1064793895, rs1553333310, rs63751077, rs1553412409, rs1299958102, rs1553333432, rs1553414092, rs267608114, rs1064794075, rs1572730065, rs587779228, rs876661193, rs754469538, rs1114167746, rs1060502891, rs587779297, rs587779284, rs587776706, rs1553331659, rs1572741984, rs1057517763, rs1558644995, rs863225404, rs1553412835, rs267608131, rs1553408306, rs878853711, rs1558659699, rs1114167771, rs587779260, rs863225416, rs267608063, rs1558666177, rs1553413253, rs1558644886, rs1114167702, rs1669487701, rs1348956744, rs1114167704, rs1558394093, rs267608062, rs1114167767, rs1553333674, rs1572739119, rs773262801, rs1572719974, rs1114167760, rs864622257, rs1553410300, rs587782593, rs63750111, rs1572736122, rs866771359, rs587779299, rs1114167766, rs1669882321, rs1060502875, rs786202842, rs1553331366, rs63750552, rs1315445200, rs1553332733, rs876661222, rs587779255, rs1572723270, rs1572736128, rs786202363, rs1553332768, rs587779216, rs1558659265, rs1572720794, rs587779243, rs1114167694, rs587779259, rs878853718, rs863225418, rs1553413074, rs869040863, rs878853736, rs863224474, rs63750647, rs587782101, rs1060502886, rs1572726468, rs1553331290, rs267608094, rs374230313, rs63749980, rs1114167731, rs63749874, rs1572698011, rs1572725235, rs63751017, rs1669252923, rs1060502888, rs1572720016, rs760190301, rs1553333321, rs1800937, rs587782862, rs1553414498, rs1553333017, rs63751097, rs863225398, rs587781372, rs267608077, rs1558387361, rs786203331, rs1553411392, rs63749919, rs1553331304, rs1114167736, rs1558667222, rs786204252, rs1064794388, rs1572746365, rs1114167715, rs41295270, rs587779254, rs1114167689, rs1572738533, rs786202108, rs1553413717, rs63751167, rs587783056, rs1324100572, rs1572745084, rs1558660612, rs863225406, rs1553412735, rs1553412441, rs63751319, rs1553333185, rs1553413640, rs587782111, rs878853739, rs863224475, rs1064794055, rs63750767, rs1669491751, rs1114167696, rs1572729033, rs267608068, rs730881827, rs1553413673, rs1572708636, rs752404604, rs587779269, rs1553333078, rs1114167756, rs1553333599, rs587779279, rs1572728472, rs786202848, rs1114167773, rs864622585, rs1057517551, rs587779212, rs1553332772, rs1064793671, rs876658817, rs1553412283, rs1572735072, rs63751419	N/A
Endometrial carcinoma	endometrial carcinoma	rs587779255, rs1114167767, rs1572720794, rs1064794055, rs267608094, rs878853704, rs63749980, rs267608068, rs63749874, rs398123231, rs760190301, rs1553412283, rs1023534466, rs63749919, rs63751319, rs267608058, rs1114167715, rs786202108, rs63750985, rs869312770, rs1057520605, rs587782111, rs63750138, rs63750767, rs1060502886, rs63751058, rs876661205, rs730881827, rs63751407, rs1060502918, rs193922343, rs267608042, rs1057517552, rs1064793671, rs63749973, rs587783056, rs63750563, rs1558663559, rs1572722039, rs267608122, rs786202193, rs864622041, rs1114167765, rs267608048, rs63751328, rs1060502932, rs786201049, rs587779264, rs587779212, rs765763906, rs267608121, rs267608064, rs267608118, rs878853702, rs786201084, rs587781691, rs1064793600, rs587782706, rs587779256, rs63749942, rs267608083, rs63750019, rs786204048, rs267608092, rs1064793781, rs63749873, rs1553413784, rs63750854, rs1553333598, rs1114167748, rs786203924, rs1114167717, rs1572720704, rs1057517764, rs1114167747, rs1060502881, rs587779206, rs587779215, rs1553412966, rs1553412064, rs1572727440, rs63751077, rs1060502885, rs587779246, rs587779263, rs730881829, rs267608055, rs398123232, rs1114167719, rs1114167707, rs587782712, rs587779267, rs267608078, rs63751405, rs1064795256, rs1114167750, rs63751327, rs1064794384, rs863225412, rs1064794164, rs587779253, rs63750075, rs876661025, rs267608076, rs267608128, rs63750833, rs63750955, rs1175196087, rs750528093, rs63749821, rs1553408136, rs1060502937, rs1553414519, rs63750342, rs146816935, rs1553333500, rs63750735, rs1558392033, rs267608120, rs753796271, rs876661073, rs1114167746, rs587779318, rs1572741984, rs1064794302, rs863224829, rs267608126, rs267608073, rs63751017, rs1114167783, rs1572728112, rs587782281, rs1553331242, rs587782326, rs63750909, rs863225398, rs267608065, rs587781544, rs63749999, rs267608041, rs587779232, rs267608082, rs63750439, rs63751127, rs786201050, rs587779227, rs863225409, rs1572723786, rs786202848, rs886044911, rs267608098, rs63750119, rs1669245178, rs1553333738, rs1553333594, rs1669365820, rs587779284, rs587776706, rs1114167776, rs1553408388, rs869312769, rs1064795591, rs1114167704, rs730881825, rs730881830, rs587779220, rs63750111, rs1553414010, rs587779297, rs267608114, rs876661222, rs1057517763, rs63750194, rs1064793489, rs63750741, rs1553412120, rs1114167731, rs1572725235, rs1553333321, rs1060502875, rs267608077	N/A
Lynch Syndrome	lynch syndrome, Lynch-like syndrome	rs587779209, rs267608086, rs1064793600, rs63750617, rs587783056, rs587779217, rs267608095, rs587779246, rs63750854, rs1572716454, rs863224476, rs587779263, rs1553333421, rs1060502875, rs1553333599, rs587779315, rs587779212, rs63751097, rs267608078, rs1553333707, rs267608055, rs786204252, rs876660095, rs41295270, rs587779256, rs587779215, rs193922343, rs267608057, rs267608049, rs63751327, rs587779244, rs1114167733, rs267608092, rs1553412441, rs1553413599, rs1114167765, rs267608056, rs786203924, rs267608048, rs1114167801, rs267608076, rs1114167756, rs267608111, rs71539659, rs864622607, rs587779267, rs876658817, rs587779923, rs587779206, rs1553333031, rs587779231, rs1060502926, rs63751442, rs267608127, rs587779221, rs63749942, rs587779245, rs786204048, rs1114167794, rs63750940, rs1572747685, rs267608120, rs587780538, rs587779203, rs63750075, rs730881829, rs267608059, rs267608128, rs63750735, rs1572729161, rs587779251, rs587779241, rs146816935, rs1553331676, rs200492211, rs1553412966, rs1114167695, rs587779252, rs587779218, rs1558663559, rs587782562, rs63750904, rs63750342, rs63751328, rs745483465, rs587779234, rs63749843, rs374230313, rs63750554, rs587779204, rs876661205, rs63750833, rs398123232, rs63750955, rs587779318, rs63750258, rs267608064, rs63750262, rs878853709, rs786201084, rs587781691, rs1558393070, rs863224829, rs587779287, rs267608083, rs267608066, rs587779226, rs1553414519, rs730881816, rs1060504739, rs587779219, rs1558664335, rs587779274, rs267608037, rs587782277, rs63750909, rs587780670, rs267608090, rs267608072, rs587779232, rs1553333644, rs267608112, rs267608082, rs267608122, rs587779301, rs1553412696, rs63750139, rs398123231, rs63751127, rs267608126, rs63750196, rs1553413710, rs397515875, rs587779227, rs1251033858, rs63750377, rs587779247, rs63750111, rs1558392617, rs1553408469, rs267608098, rs267608065, rs587779291, rs730881830, rs63749999, rs876661073, rs587779778, rs1553332996, rs869312769, rs587782712, rs1057517764, rs63751410, rs1572720192, rs587779243, rs267608041, rs878853711, rs63750439, rs1553333738, rs267608088, rs863225412, rs63750741, rs63750356, rs267608085, rs587779288, rs876661033, rs1244531716, rs267608099, rs1064794384, rs63751017, rs1572728112, rs267608063, rs63751077, rs863225421, rs267608114, rs587781544, rs63750552, rs587779220, rs267608130, rs1060502901, rs750528093, rs63751090, rs863225404, rs267608131, rs1114167709, rs267608091, rs587779260, rs63749821, rs587779320, rs1558666905, rs63750296, rs1572723723, rs267608036, rs63750731, rs765411990, rs864622257, rs587779299, rs63750119, rs267608077, rs753796271, rs1553412609, rs1553333594, rs1669365820, rs587779255, rs587779254, rs63750996, rs63749938, rs587779216, rs63750194, rs1064793489, rs587779259, rs63751319, rs878853736, rs863224474, rs746306598, rs267608094, rs63749980, rs267608073, rs63749874, rs267608101, rs267608035, rs267608106, rs1800937, rs267608046, rs1553414092, rs267608058, rs587779319, rs63751167, rs1572741984, rs863225406, rs267608084, rs587782111, rs267608096, rs876658881, rs63750767, rs587779941, rs587779289, rs267608068, rs876661251, rs1269788253, rs752404604, rs587779279, rs63750564, rs864622585, rs1553332772, rs587779237, rs267608124, rs1553332166, rs1553412283, rs63751419, rs587779208, rs587779295, rs1114167729, rs587776706, rs63750019, rs869312770, rs63750563, rs63750357, rs63749873, rs864622041, rs63750140, rs1558666177, rs1572747278, rs63750138, rs1060502886, rs63751058, rs63751407, rs786201042, rs267608042, rs267608050, rs760190301, rs587779250, rs863225398, rs63751321, rs267608121, rs587779258, rs1333555322, rs267608118	N/A
Lynch syndrome	Lynch syndrome 5, Lynch syndrome 1, Lynch syndrome 4	rs786204252, rs1553408245, rs1114167715, rs41295270, rs1114167729, rs587776706, rs1114167689, rs1572738533, rs786202108, rs1553410342, rs63751167, rs1572746382, rs63750563, rs1230092559, rs63750357, rs878853702, rs1114167733, rs1553412441, rs587781650, rs786201042, rs1553333185, rs63749873, rs1553413640, rs587782111, rs63750140, rs878853739, rs876660037, rs63750767, rs1669491751, rs63749843, rs1060502886, rs1114167708, rs1553412120, rs1572729033, rs730881827, rs1114167731, rs1572708636, rs752404604, rs1572725235, rs1114167756, rs587779279, rs1572728922, rs786202336, rs1114167773, rs864622585, rs587779250, rs1057517552, rs863225399, rs1553332772, rs587779264, rs1064793671, rs1572727176, rs876658817, rs1333555322, rs267608077, rs786201084, rs1572735072, rs63751419, rs1553408127, rs878853721, rs1553333093, rs1558645195, rs587779295, rs587779914, rs63749942, rs63749973, rs63750019, rs587783056, rs1553332776, rs1558663559, rs863225406, rs1572721655, rs1553413424, rs267608122, rs587781659, rs1553413178, rs1114167794, rs864622041, rs63750832, rs1064794055, rs1572747278, rs1558661380, rs587780538, rs267608068, rs1553412090, rs63751328, rs1553333127, rs1553408380, rs1669287624, rs1060502932, rs267608050, rs760190301, rs1553333497, rs1114167724, rs1553332312, rs587779212, rs63751321, rs267608121, rs267608064, rs267608118, rs1553412283, rs63749919, rs267608055, rs1558668258, rs267608086, rs1064793600, rs1553412966, rs1114167728, rs1114167695, rs63750985, rs869312770, rs1553414395, rs1057520605, rs267608049, rs63751327, rs1064795629, rs1064793781, rs745483465, rs587779246, rs1553413784, rs878853742, rs63750854, rs1553333168, rs587779263, rs1064795960, rs63750138, rs876660630, rs1553333421, rs63751058, rs1114167748, rs878853704, rs786203924, rs367758473, rs876661205, rs1553413006, rs1114167801, rs1060502918, rs1473648816, rs1553410230, rs1114167774, rs267608042, rs1572720704, rs398123232, rs1553333615, rs63750955, rs1553408267, rs1553411409, rs1553333175, rs1572739043, rs75095286, rs267608078, rs1553333707, rs1023534466, rs1572735943, rs587779231, rs878853729, rs863224473, rs1553412129, rs876658296, rs587779215, rs193922343, rs267608057, rs63751077, rs730881826, rs1572746488, rs1057524912, rs766905993, rs1553414131, rs1553411391, rs786202193, rs1114167714, rs587782277, rs863225402, rs1558662873, rs1114167765, rs63751427, rs730881815, rs267608048, rs267608128, rs1007311950, rs1060502901, rs267608111, rs1572730021, rs786201049, rs1553412804, rs71539659, rs891318615, rs1558392265, rs863225401, rs1553333635, rs587779267, rs1064794943, rs1572742114, rs587779241, rs587779923, rs1553412696, rs1553413663, rs587779948, rs63751405, rs63751442, rs267608127, rs587782706, rs587779256, rs1572725436, rs200492211, rs1114167692, rs587779252, rs587782562, rs1064794384, rs1572722737, rs63750342, rs267608092, rs864622435, rs63750940, rs878853745, rs587779294, rs1553333700, rs1064794164, rs1572747685, rs267608120, rs1553414578, rs587779253, rs63750075, rs876661025, rs864622153, rs753796271, rs267608059, rs1060502876, rs267608076, rs1276159036, rs1572738865, rs876661073, rs1553414029, rs559125434, rs786203968, rs1553412502, rs1057517764, rs1558393814, rs863225403, rs1572720192, rs1114167747, rs1553412495, rs587781462, rs587779206, rs1558644683, rs587781691, rs1553408136, rs1558393070, rs1054003194, rs1553331676, rs1572716545, rs1669451548, rs587779287, rs267608083, rs267608066, rs1114167793, rs1572727440, rs876661125, rs1553414519, rs730881816, rs1060504739, rs267608073, rs1060502885, rs1572723723, rs63750904, rs1553331337, rs786204048, rs1114167720, rs1553333500, rs1553333633, rs267608037, rs765411990, rs63750735, rs1553414022, rs63750909, rs863225421, rs1572728898, rs876660283, rs1558392033, rs63750617, rs1060502890, rs1553414239, rs63750119, rs1553333598, rs1114167763, rs587781544, rs267608072, rs1060502881, rs1553413138, rs146816935, rs1553331659, rs778555956, rs1114167719, rs761037236, rs587779318, rs1114167707, rs1553333605, rs1572741984, rs63750258, rs1558644995, rs876660853, rs1553414010, rs63750139, rs1553413116, rs398123231, rs863224829, rs1064795256, rs876660549, rs1572725803, rs587779936, rs1114167725, rs786201050, rs587779219, rs863225408, rs1114167723, rs1114167721, rs587779274, rs587782281, rs1553331242, rs587782326, rs63750111, rs1558392617, rs267608098, rs1553413985, rs587780670, rs1670120965, rs587779204, rs1558665297, rs1064793183, rs267608041, rs1553412609, rs1572745157, rs587779232, rs1553333370, rs63750833, rs1114167790, rs63751234, rs1175196087, rs267608082, rs1114167705, rs587782712, rs1553331434, rs63751410, rs1553333449, rs878853711, rs1553333738, rs1553333164, rs863225416, rs1558394336, rs1553412824, rs63751127, rs1558392228, rs1114167750, rs876659189, rs397515875, rs1114167704, rs1553408467, rs1572727797, rs587779227, rs1572746998, rs1553332297, rs1114167712, rs1572719776, rs886044911, rs762814792, rs1432436629, rs1572736122, rs876660943, rs1114167766, rs1416452389, rs1553331366, rs63750552, rs1553413305, rs1669245178, rs1553333682, rs876661222, rs1553412720, rs1114167776, rs587781609, rs750528093, rs1553408388, rs1114167782, rs869312769, rs587782809, rs1553331722, rs1572720288, rs587779243, rs1114167709, rs756043669, rs1553413294, rs63749821, rs1553412397, rs63750741, rs63750356, rs1064795591, rs876658881, rs267608126, rs1060502926, rs1572726309, rs587779941, rs587779288, rs876661033, rs730881825, rs1114167804, rs1322095633, rs1114167755, rs1553333072, rs63751017, rs730881830, rs587779220, rs1064793895, rs1572728112, rs1553333321, rs587782862, rs587779221, rs1553412409, rs1558661308, rs863225398, rs1553413470, rs267608065, rs587779297, rs267608114, rs1064794075, rs587779228, rs876661193, rs1553331304, rs1114167718, rs1064794388, rs754469538, rs773226008, rs1114167746, rs1060502891, rs587779254, rs1324100572, rs63749938, rs1057517763, rs63750194, rs1064793489, rs1553412835, rs267608131, rs1553408306, rs63751319, rs1558667222, rs267608035, rs1114167771, rs267608063, rs1558666177, rs1553413253, rs746306598, rs1669487701, rs1558394093, rs267608062, rs1114167767, rs1553333674, rs63751407, rs863225409, rs267608101, rs773262801, rs63749999, rs1114167760, rs1572728472, rs786202848, rs587782593, rs1057517551, rs1114167791, rs866771359, rs1114167770, rs1669552731, rs1060502875, rs1553414092, rs1315445200, rs1553332733, rs267608058, rs1558664787, rs587779255, rs1060502940, rs1572723640, rs1553332768, rs587779216, rs1572720794, rs1114167694, rs587779259, rs1553333346, rs878853718, rs1114167749, rs1553413599, rs1553332671, rs267608096, rs876658864, rs587782101, rs1114167702, rs587779945, rs1553331290, rs267608094, rs374230313, rs63749980, rs876661251, rs1553408413, rs1572746025, rs63749874, rs1669252923, rs1060502888, rs1572720562, rs1800937, rs63750564, rs1553414498, rs587782638, rs1553333017, rs63751097, rs1482228994, rs777159874, rs587781372, rs1558387361, rs786203331, rs1553332166, rs1553411392, rs1553333690	N/A
neoplasm	Neoplasm	rs1553332772	N/A
Adenocarcinoma Of Colon	Colon adenocarcinoma	rs1553413200	N/A
gastric cancer	Gastric cancer	rs863225406, rs193922343, rs374230313, rs63749919, rs1060502926, rs587779246, rs267608076, rs63751327, rs587779204, rs267608078, rs1558644995, rs1553333738, rs63749999, rs63750439	N/A
Gaucher Disease	Gaucher disease type I	rs1553333346	N/A
Hereditary nonpolyposis colorectal cancer	hereditary nonpolyposis colorectal carcinoma	rs1064793185, rs886044911	N/A
Ovarian Carcinoma	ovarian carcinoma	rs587779243	N/A
Rhabdomyosarcoma	rhabdomyosarcoma	rs587781462	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Hepatoblastoma	hepatoblastoma	N/A	N/A	ClinVar
hereditary cancer	Hereditary cancer	N/A	N/A	ClinVar
ovarian cancer	Ovarian cancer	N/A	N/A	ClinVar
Ovarian cancer	ovarian cancer	N/A	N/A	GenCC
Pancreatic Neoplasm	malignant pancreatic neoplasm	N/A	N/A	GenCC
Prostate cancer	prostate cancer	N/A	N/A	GenCC
Takayasu Arteritis	Takayasu arteritis	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	29972732, 32313185, 34227026, 37658412
Adenocarcinoma Mucinous	Associate	23648460, 30173239
Adenocarcinoma Mucinous	Inhibit	26097592
Adenoma	Associate	26510091
Adenomatous Polyposis Coli	Associate	24310308, 39519399
Adrenocortical Carcinoma	Associate	34941572
Angina Stable	Associate	33746161
Angina Unstable	Associate	15354210
Anophthalmia with pulmonary hypoplasia	Associate	37200008
Appendiceal Neoplasms	Associate	23648460
Astrocytoma	Associate	24073290
Autoimmune Diseases	Associate	35236796
Bantu siderosis	Inhibit	34083737
Biliary Tract Neoplasms	Associate	36243179
Brain Diseases	Associate	28466842
Brain Neoplasms	Stimulate	33501557, 39910726
Breast Neoplasms	Associate	15805151, 19781088, 21700777, 22765268, 23164213, 24884479, 26976419, 28514183, 29345684, 31811167, 32868316, 33560870, 33826040, 34196900, 34667028, 34866136, 34941572, 35451682
Breast Neoplasms Male	Associate	22765268
Burkitt Lymphoma	Associate	28465297
Cafe au Lait Spots	Associate	25329635, 34738371
Carcinogenesis	Associate	10934138, 21437237, 28701629, 34104084, 34941572, 36068491, 39766782
Carcinoma	Associate	23648460
Carcinoma Adenosquamous	Associate	30173239
Carcinoma Basal Cell	Associate	30089731
Carcinoma Endometrioid	Associate	32060377
Carcinoma Hepatocellular	Associate	15918183, 30981109, 32746792, 36634747
Carcinoma Medullary	Inhibit	34895278
Carcinoma Non Small Cell Lung	Associate	33574476
Carcinoma Ovarian Epithelial	Associate	10408416, 24728189
Carcinoma Pancreatic Ductal	Associate	26226846, 26483394, 36582237
Carcinoma Renal Cell	Associate	29509313
Carcinoma Transitional Cell	Associate	11333868
Carcinosarcoma	Associate	21572397
Central Nervous System Neoplasms	Associate	37076313
Cholangiocarcinoma	Associate	28146430, 33200197
Chromosomal Instability	Associate	10521294
Colonic Neoplasms	Inhibit	18987546
Colonic Neoplasms	Associate	21288634, 23729658, 23958088, 24518125, 28819720, 29672549, 30387329, 32611331, 36180906, 37314143
Colonic Neoplasms	Stimulate	24484585
Colorectal Neoplasms	Associate	10507723, 10544224, 11333868, 11709755, 12373605, 15118395, 15217520, 15713769, 16106253, 16270383, 16636019, 16807412, 16940983, 17117178, 17348456, 17504984, 17854147, 17962726, 18269114, 18523027, 19351759, 19582761, 19723918, 19752738, 19930554, 20028993, 20655395, 20665498, 20727894, 20924129, 21034533, 21056691, 21155762, 21499234, 22331944, 22581703, 22918162, 22933731, 22949387, 23047549, 23164213, 24090359, 24643686, 24815484, 24829445, 24895601, 24968821, 25370038, 25432668, 25479140, 26097592, 26109217, 26247575, 26510091, 26657901, 26900293, 27152634, 27261338, 27430658, 27770786, 27799157, 28445943, 28451866, 28514183, 28651545, 28675510, 28754778, 29237405, 29672549, 29945573, 29967336, 30018131, 30256826, 30324682, 30443012, 30486602, 30613919, 30723092, 30730459, 30916491, 31116002, 31337882, 31607698, 31636305, 31769227, 31783044, 32051040, 32144135, 32321971, 32541478, 32611331, 32634176, 32664968, 32914570, 33077534, 33094597, 33568103, 33636974, 33746161, 33817713, 34091457, 34111421, 34607897, 34941572, 34998373, 35074970, 35236796, 35346574, 35809086, 35900537, 36593122, 36872334, 37022939, 37307877, 38297350, 40295928
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	10521294, 11709755, 12547705, 14970868, 15118395, 15354210, 15731775, 15872200, 16237223, 17003396, 17531815, 18556776, 19117025, 19389263, 19504173, 19723918, 20028993, 20473912, 20587412, 20655395, 20665498, 20937110, 21145788, 21155762, 21227399, 21769135, 21791569, 21821902, 22321913, 22322191, 22345660, 22355048, 22581703, 22949387, 23408351, 23523604, 23621914, 23729658, 24084575, 24090359, 24310308, 24362816, 24444820, 24518125, 24518836, 24743384, 24829445, 25133505, 25194673, 25204323, 25370038, 25432668, 25782445, 25910169, 25987035, 26109217, 26437257, 26485756, 26552419, 26657901, 26685087, 27152634, 27363726, 27456091, 27601186, 27938333, 28466842, 28481244, 28489507, 28494185, 28514183, 28668538, 28874130, 28933000, 29088233, 29120461, 29146522, 29345684, 29575718, 29672549, 29723603, 29967423, 30161022, 30217226, 30238922, 30376427, 30543514, 30572730, 30614234, 30623411, 30877237, 30946512, 31297992, 31307558, 31337882, 31604779, 31636305, 31780564, 31822864, 31855955, 31932681, 31965077, 32007537, 32144135, 32587781, 32606442, 32611331, 32634176, 32885271, 33033905, 33077534, 33094597, 33293698, 33369189, 33393477, 33746161, 33983630, 34018286, 34091457, 34111421, 34140662, 34285288, 34302852, 34326811, 34499134, 34678156, 34866136, 34979565, 35172941, 35197584, 35346574, 35655404, 35713195, 35809086, 36293153, 36548287, 36571259, 36593122, 36691871, 36833239, 36875157, 37076313, 37086325, 37244485, 37307877, 37318702, 37798659, 37940339, 38030917, 38191122, 38280988, 38297350, 38433331, 39255351, 39320958, 39741348, 40340154, 9709044
Colorectal Neoplasms Hereditary Nonpolyposis	Inhibit	21911971, 23354017, 27144940, 32102509
Colorectal Neoplasms Hereditary Nonpolyposis	Stimulate	29587389
Developmental Disabilities	Associate	33811277
Drug Related Side Effects and Adverse Reactions	Associate	19584161
Dysplastic Nevus Syndrome	Associate	34227026
Endometrial Hyperplasia	Associate	11709755, 34499134, 36628559, 37940339
Endometrial Neoplasms	Associate	11333868, 11709755, 12732731, 15118395, 15354210, 17003396, 18269114, 20028993, 20153885, 20727894, 20937110, 21155762, 22331944, 23164213, 23385444, 24323032, 25229768, 25400828, 27420608, 27486176, 28946809, 30161022, 30238922, 30443012, 30772826, 31307542, 31308508, 31337882, 31386297, 31554352, 31783044, 31855955, 32060377, 32587781, 32634176, 33755781, 35346574, 35775705, 36482191, 36691871, 36765365, 37307877, 37318702, 38191122, 38297350, 38433331
Endometrial Neoplasms	Inhibit	27144940, 36765365
Esophageal Squamous Cell Carcinoma	Associate	29866946, 37009661
Familial medullary thyroid carcinoma	Associate	26530882
Fanconi Anemia	Associate	34404366
Fragile X Syndrome	Associate	35189552
Gallbladder Neoplasms	Associate	31068195, 33328484
Gastrointestinal Neoplasms	Stimulate	39910726
Genetic Diseases Inborn	Associate	12732731, 16237223
Glaucoma Open Angle	Associate	22876139
Glioblastoma	Associate	17404084, 19584161, 21288634, 30104292, 30861589, 31604779, 34848827
Glioma	Associate	16618716, 17388945, 40302099
Glucosephosphate Dehydrogenase Deficiency	Associate	36765365, 37307877, 37318702
Hamartoma	Associate	32390703
Hereditary Breast and Ovarian Cancer Syndrome	Associate	23164213, 26976419, 28514183, 29988077, 30128536, 32039725, 35451682
Hereditary pancreatitis	Associate	28687971
Heredodegenerative Disorders Nervous System	Associate	10037468
Immunologic Deficiency Syndromes	Associate	20924129, 21637783
Intestinal Neoplasms	Associate	39320958
Intestinal Polyposis	Associate	25204323, 27430658
Kidney Neoplasms	Associate	22331944
Klatskin Tumor	Inhibit	37314143
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	28452984
Leukemia Myeloid Acute	Inhibit	23349304
Leukemia Myeloid Acute	Associate	26689913
Liposarcoma Myxoid	Associate	31702654
Lung Neoplasms	Associate	40340154
Lymphatic Metastasis	Associate	31786870, 36482191
Lymphatic Metastasis	Stimulate	33501557
Lymphoma B Cell	Associate	26599546
Lymphoma Large B Cell Diffuse	Associate	23960188
Malignant mesenchymal tumor	Associate	21572397
Medulloblastoma	Associate	19179424
Melanoma	Associate	24926095
Meningioma	Associate	36975468
Mesothelioma	Associate	37556141
Microsatellite Instability	Associate	10507723, 10934138, 11709755, 12732731, 17117178, 17962726, 19582761, 20516444, 20655395, 20665498, 21228925, 25432668, 29976631, 30121009, 30387329, 30543514, 31068195, 31292272, 31636305, 32022486, 32144630, 33287897, 33817713, 34761625, 35346574, 35900537, 37022939, 37244485, 39623302
Microsatellite Instability	Inhibit	17388945, 21081928, 23011871
Microsatellite Instability	Stimulate	31848314
Muir Torre Syndrome	Associate	15662714, 18065960, 25197397
Muir Torre Syndrome	Inhibit	21288634
Neoplasm Invasiveness	Associate	30387329
Neoplasm Metastasis	Associate	24072219, 31702654, 32611331, 34941572
Neoplasms	Associate	10521294, 11709755, 12057899, 15098177, 15217520, 15354210, 15662714, 15872200, 15918183, 16270383, 16497872, 17117178, 17404084, 17531815, 18781192, 18951447, 18951449, 19179424, 19389263, 20028993, 20516444, 20655395, 20727894, 21081928, 21437237, 21821902, 21837758, 21911971, 22493294, 22581703, 22714864, 22918162, 23729658, 23960188, 24072219, 24073290, 24204293, 24565683, 24926095, 25305506, 25576899, 25938433, 25987035, 26215063, 26466313, 26552419, 26657901, 26689913, 26817916, 26900293, 27013479, 27324988, 27327152, 27486176, 27756888, 28050010, 28445943, 28640387, 28687971, 28701629, 28878254, 29053726, 29137657, 29324546, 29329588, 29706640, 29723603, 29878286, 29955148, 30217226, 30665466, 30850667, 30861589, 30916491, 31292272, 31337882, 31601699, 31604779, 31629422, 31783044, 31848314, 31958182, 31965077, 32060377, 32108923, 32144630, 32364878, 32634176, 32664968, 32717381, 33162477, 33199489, 33200197, 33427689, 33452216, 33574476, 33746161, 33817713, 34018286, 34172528, 34250406, 34285288, 34397043, 34678156, 34738371, 34941572, 35197584, 35346574, 35522273, 35655404, 35713195, 36068491, 36411032, 36529447, 36582237, 36691871, 36765365, 36792128, 36833239, 36896836, 37086325, 37188452, 37200008, 37307877, 38093606, 38105176, 39910726, 8805365, 9111357
Neoplasms	Inhibit	10783165, 25400828, 28344356, 30548332, 36765365
Neoplasms Cystic Mucinous and Serous	Associate	22811390, 27938333, 31855955, 34018286
Neoplastic Syndromes Hereditary	Associate	15098177, 31554352, 33827469, 36261688, 36916756, 37314143
Neuroblastoma	Associate	10037468
Neurodegenerative Diseases	Associate	21821902
Neuroendocrine Tumors	Associate	35417733, 40129208
Neurofibromatosis 1	Associate	32773772, 33568103
Neurotoxicity Syndromes	Stimulate	10037468
Neutropenia	Associate	22868256
Nevus	Associate	24926095, 39910726
Non Muscle Invasive Bladder Neoplasms	Associate	28344356
Osteosarcoma	Associate	28387323
Ovarian Cysts	Associate	37188452
Ovarian Neoplasms	Associate	22331944, 23047549, 25622547, 26718727, 28888541, 29063235, 29889250, 32019284, 33541386, 33560870, 36411032, 36581850, 37013556, 37940339
Pancreatic Carcinoma	Inhibit	34895278
Pancreatic Intraductal Neoplasms	Associate	18987546, 34895278
Pancreatic Neoplasms	Associate	21212431, 21681824, 22331944, 25479140, 26483394, 27449771, 32108923, 32354656, 34941572, 36582237, 36896836
Paraganglioma	Associate	40235160
Personality Disorders	Associate	27486019
Peutz Jeghers Syndrome	Associate	32390703
Pilomatrixoma	Associate	39910726
Pituitary Neoplasms	Associate	28701629
Polycythemia Vera	Associate	32606442
Precancerous Conditions	Associate	34941572
Pregnancy in Diabetics	Associate	37172903
Primary Ovarian Insufficiency	Associate	38310280
Prostatic Neoplasms	Associate	19723918, 25255306, 25938433, 27013479, 27486019, 28206966, 28403887, 31629422, 32315455, 33287897, 34678156, 35487690, 35666082, 36623239, 37207301, 37283096
Prostatic Neoplasms	Inhibit	27456091, 32384491
Prostatitis	Associate	27456091, 31629422
Rectal Neoplasms	Associate	25432668, 26817916, 27432916
Respiratory Tract Infections	Associate	27713421
Retinoblastoma	Associate	22278416
Sarcoma	Associate	28878254
Sarcoma Ewing	Associate	31702654
Schwannomatosis	Associate	32281771
Sebaceous Gland Neoplasms	Associate	24518836, 25924010, 29718441
Sebaceous Tumors Somatic	Associate	24969397, 25924010
Skin Diseases	Associate	15662714, 26312706
Skin Neoplasms	Associate	21499234
Soft Tissue Infections	Associate	37076313
Spinocerebellar Degenerations	Associate	37098015
Squamous Cell Carcinoma of Head and Neck	Associate	31981740, 33501557, 35789992
Stomach Diseases	Associate	30387329
Stomach Neoplasms	Associate	19181186, 26685087, 26689913, 27527654, 30387329, 31308508, 36792128
Testicular Germ Cell Tumor	Associate	34941572
Thyroid cancer medullary	Associate	32242507
Thyroid Cancer Papillary	Associate	33574476, 34104084
Thyroid Carcinoma Anaplastic	Associate	25576899
Triple Negative Breast Neoplasms	Associate	30630526
Turcot syndrome	Associate	15354210, 21242281, 22493294, 22581703, 22692065, 25938433, 26116798, 26619103, 27327152, 27432916, 28381238, 29302048, 29329588, 30723092, 30926882, 31068195, 31204389, 31604779, 32060377, 32611331, 32773772, 32804882, 33033905, 33094597, 33216206, 33568103, 34018286, 34048176, 34111421, 34425783, 34545179, 34738371, 35346574, 36765365, 36875157, 37940339, 39910726, 40105034
Turcot syndrome	Inhibit	20924129, 32108923, 32197529, 32664968, 33369189, 35946190, 36482191, 37699372, 38378964
Unilateral Breast Neoplasms	Associate	31848314
Urinary Bladder Neoplasms	Associate	11506498, 36818940, 40640365
Urologic Neoplasms	Associate	37798659
Uterine Cervical Dysplasia	Associate	34404366
Uterine Cervical Neoplasms	Associate	34404366
Uterine Cervicitis	Associate	26685087
Uterine Diseases	Associate	28752845
Uveal melanoma	Associate	30107825
X Linked Combined Immunodeficiency Diseases	Associate	23621914