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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2956
Gene name	MutS homolog 6
Gene symbol	MSH6
Synonyms (NCBI Gene)	GTBPGTMBPHNPCC5HSAPLYNCH5MMRCS3MSH-6p160
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

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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

132

Show/Hide all (132)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000459	hsa-miR-155-5p	Luciferase reporter assayWestern blotNorthern blot	20351277
MIRT005430	hsa-miR-21-5p	Luciferase reporter assayNorthern blotqRT-PCRWestern blot	21078976
MIRT005430	hsa-miR-21-5p	Luciferase reporter assayNorthern blotqRT-PCRWestern 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

Show/Hide all (1)

Transcription factor	Regulation	Reference
SP3	Activation	14585961

Show/Hide all (69)

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

MIM	HGNC	e!Ensembl
600678	7329	ENSG00000116062

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

Interactions

View interactions

	KEGG		Reactome
	Platinum drug resistance Mismatch repair Pathways in cancer Colorectal cancer		Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) Defective Mismatch Repair Associated With MSH2 Defective Mismatch Repair Associated With MSH6

24102

Show/Hide Causal Diseases (40)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Breast and/or ovarian cancer	Likely pathogenic; Pathogenic	rs587782277, rs2104526796, rs786201042, rs864622153, rs1553333584, rs267608094, rs63750617, rs267608078, rs267608098	RCV001270948 RCV003150490 RCV001798562 RCV001270947 RCV003150246 RCV003492340 RCV003492400 RCV003149722 RCV001798254
Breast carcinoma	Likely pathogenic; Pathogenic	rs1553333072, rs1114167702, rs63751017, rs63750617	RCV001554267 RCV001580145 RCV001554337 RCV001564011
Breast-ovarian cancer, familial, susceptibility to, 1	Pathogenic	rs63750563	RCV005861041
Carcinoma of colon	Likely pathogenic; Pathogenic	rs2104112957, rs2104227755, rs2104318953, rs1669384406, rs2104380327, rs2104503689, rs2104510085, rs2104521349, rs2104556388, rs587781462, rs587782712, rs786201042, rs1553333738, rs863225401, rs863225404 View all (37 more)	RCV001356829 RCV001355430 RCV001354763 RCV001355389 RCV001356305 RCV001356831 RCV001356348 RCV001355614 RCV001357389 RCV001353758 RCV001355368 RCV001353573 RCV001358035 RCV001354409 RCV001353871 RCV001355483 RCV000460316 RCV000503246 RCV000502404 RCV000502171 RCV000504411 RCV000500571 RCV000499958 RCV001353784 RCV000499672 RCV000501467 RCV000499819 RCV000503361 RCV001354541 RCV001355603 RCV001354871 RCV001355629 RCV001355819 RCV001355905 RCV001353858 RCV001353545 RCV001353475 RCV001353694 RCV001353485 RCV001353531 RCV001357595 RCV001353539 RCV001353984 RCV001358489 RCV001353640 RCV001353417 RCV001353638 RCV001354030 RCV001357388 RCV001357340 RCV001358367 RCV001354656
Cerebellar medulloblastoma	Pathogenic	rs886056144	RCV000845243
Colon adenocarcinoma	Pathogenic	rs1553413200	RCV000677890
Colorectal cancer	Likely pathogenic; Pathogenic	rs2104430094, rs267608083	RCV002290230 RCV001293834
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Pathogenic	rs267608078	RCV006253776
Endometrial carcinoma	Pathogenic; Likely pathogenic	rs2104536268, rs2104566954, rs2104340974, rs2104378465, rs1553413355, rs778741297, rs1572746025, rs863225421, rs63750119, rs267608064, rs587781691, rs63749821, rs267608092, rs587782111, rs587782326 View all (233 more)	RCV001355019 RCV001355850 RCV003463005 RCV001775213 RCV001809107 RCV003471154 RCV003471245 RCV003471111 RCV003460886 RCV003467107 RCV003467122 RCV003467133 RCV003460919 RCV003461995 RCV003467170 RCV003462035 RCV003462036 RCV003462054 RCV002250123 RCV002250125 RCV003464437 RCV003464451 RCV004572257 RCV005397383 RCV005025796 RCV004567221 RCV003462099 RCV003467256 RCV003462100 RCV003464496 RCV002478495 RCV003462153 RCV004567229 RCV003468759 RCV001357169 RCV000500646 RCV003462147 RCV003462238 RCV001355844 RCV004567351 RCV001357574 RCV005394572 RCV003462132 RCV003465743 RCV004572444 RCV003465762 RCV003465750 RCV005397429 RCV003465840 RCV003464614 RCV003464620 RCV003464628 RCV003468911 RCV003468929 RCV005365135 RCV003468930 RCV003462357 RCV003462359 RCV003468972 RCV003462399 RCV003463614 RCV003463618 RCV003463609 RCV003463615 RCV003469108 RCV001353594 RCV005361359 RCV005396727 RCV005396724 RCV000763498 RCV003463643 RCV002503888 RCV002496313 RCV001355519 RCV003128175 RCV003128176 RCV005399278 RCV003459825 RCV003320448 RCV003459847 RCV004567839 RCV003461931 RCV005399406 RCV003466082 RCV003459870 RCV003470253 RCV003470255 RCV003461953 RCV003461954 RCV003461955 RCV003470256 RCV003466083 RCV003461956 RCV003461957 RCV003461958 RCV003459872 RCV003459869 RCV003459871 RCV003470257 RCV003459868 RCV003470258 RCV003461959 RCV004574121 RCV004576257 RCV003463810 RCV003470358 RCV003470357 RCV003463828 RCV001355892 RCV004568051 RCV003463939 RCV004568056 RCV003463929 RCV003463942 RCV003463927 RCV005355856 RCV003463925 RCV003463926 RCV003470577 RCV003463988 RCV001643202 RCV003464024 RCV001356237 RCV004568172 RCV003470557 RCV003463990 RCV003470558 RCV003463984 RCV003464010 RCV003463992 RCV003463975 RCV001356471 RCV003470600 RCV003470603 RCV003464044 RCV003470602 RCV003464049 RCV002248719 RCV003464055 RCV003464052 RCV003470599 RCV003464058 RCV003464054 RCV001355622 RCV003464053 RCV001357870 RCV003464045 RCV003227768 RCV003464043 RCV003464046 RCV003470604 RCV004568630 RCV001197204 RCV003464073 RCV003459172 RCV005398771 RCV003466878 RCV002483526 RCV003459390 RCV003128159 RCV003459293 RCV002490471 RCV004568356 RCV003459499 RCV003459494 RCV003459664 RCV003460957 RCV003883159 RCV003461015 RCV004569491 RCV003128161 RCV004569629 RCV003467407 RCV004569673 RCV005392392 RCV003461371 RCV002249630 RCV001809902 RCV003461335 RCV003128163 RCV003461374 RCV003467660 RCV002489524 RCV004570259 RCV003467779 RCV003462724 RCV004570494 RCV003460657 RCV001356254 RCV003460659 RCV003460660 RCV003466933 RCV003460661 RCV003128135 RCV003460662 RCV003460664 RCV003466934 RCV003128136 RCV005357441 RCV001358609 RCV003466937 RCV001353773 RCV001353419 RCV003466938 RCV002490669 RCV003460669 RCV002498357 RCV003466942 RCV003466943 RCV001353421 RCV005031552 RCV000148645 RCV003460672 RCV004566920 RCV003460674 RCV003466945 RCV003460675 RCV001355855 RCV003466946 RCV003460676 RCV003460678 RCV003460679 RCV000763497 RCV003466947 RCV001762178 RCV002504982 RCV003460681 RCV003460684 RCV001292865 RCV003466948 RCV003460685 RCV003460686 RCV003460687 RCV001355382 RCV003460690 RCV003460691 RCV003466950 RCV003466951 RCV003460693 RCV001355170 RCV003460694 RCV001358303 RCV003460695 RCV003460696 RCV003460697 RCV001355904 RCV003460698 RCV003466952 RCV002477214 RCV003460700 RCV003460701 RCV003460702 RCV001354709 RCV003460704 RCV003466953 RCV002246266 RCV003466970 RCV003466971
Familial cancer of breast	Likely pathogenic; Pathogenic	rs1553332772, rs2530593620, rs878853711, rs1669483230	RCV005361889 RCV005370204 RCV005361379 RCV005359897
Familial prostate cancer	Likely pathogenic; Pathogenic	rs63751327	RCV002509413
Gastric cancer	Pathogenic; Likely pathogenic	rs2104472237, rs1553333738, rs2530631576, rs2103941902, rs2103943939, rs2530524640, rs2530763664, rs2530899339, rs2530691230, rs2530803426, rs2104568521, rs1669440921, rs863225406, rs193922343, rs63749919 View all (13 more)	RCV003170177 RCV003162687 RCV003164545 RCV003164549 RCV003164562 RCV003164608 RCV003164609 RCV003164610 RCV003164654 RCV003164655 RCV003164656 RCV003164716 RCV003165480 RCV003165481 RCV003165582 RCV003168831 RCV003166045 RCV003166197 RCV003162468 RCV003162469 RCV003162470 RCV003162471 RCV003162472 RCV003162473 RCV003162474 RCV003162475 RCV003162476 RCV003162477 RCV003162478
Gaucher disease type I	Pathogenic	rs1553333346	RCV000515465
Glioma susceptibility 1	Pathogenic	rs63749999	RCV005890429
Hereditary breast ovarian cancer syndrome	Pathogenic	rs63750909	RCV004794357
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2104112957, rs876660853, rs746306598, rs786202772, rs2104110751, rs2104229850, rs1553411409, rs2104238107, rs2104288054, rs2104293218, rs2104306720, rs2104340974, rs2104372607, rs2104377567, rs537604099 View all (1105 more)	RCV002341743 RCV004034503 RCV006406933 RCV002322373 RCV002329409 RCV002341825 RCV002341826 RCV002357291 RCV002368231 RCV006406932 RCV002377571 RCV004945109 RCV003169949 RCV002413921 RCV004037642 RCV002447505 RCV002438887 RCV002322370 RCV002456600 RCV002350730 RCV002364095 RCV005369868 RCV002377572 RCV001525660 RCV001525709 RCV002324129 RCV003161074 RCV002421189 RCV002460166 RCV002370312 RCV005638588 RCV002359254 RCV004651719 RCV002422853 RCV002361061 RCV000129248 RCV000223291 RCV002422867 RCV000491836 RCV000490956 RCV000115420 RCV000491425 RCV002324260 RCV004041385 RCV002370605 RCV004651867 RCV000491356 RCV002361139 RCV002441040 RCV002397801 RCV002324390 RCV002388778 RCV002370601 RCV002344079 RCV002423274 RCV002388931 RCV004945854 RCV002386711 RCV002458695 RCV003365601 RCV003170170 RCV002324405 RCV002258335 RCV002407184 RCV002370609 RCV004945836 RCV002324407 RCV005370078 RCV004651818 RCV002407041 RCV002386733 RCV002458833 RCV000128906 RCV000129081 RCV000129185 RCV000129244 RCV000129263 RCV005439036 RCV000129397 RCV000129558 RCV000129782 RCV000129802 RCV000129856 RCV000130192 RCV000130275 RCV000130627 RCV000130771 RCV000131134 RCV000131234 RCV000131937 RCV000132031 RCV000132174 RCV000132188 RCV000132371 RCV000216742 RCV004651966 RCV004641946 RCV002255870 RCV002382491 RCV004945985 RCV005674975 RCV003164435 RCV002319852 RCV002325978 RCV002445441 RCV002324654 RCV002324691 RCV002454782 RCV002454787 RCV002451854 RCV002451878 RCV002459487 RCV002459515 RCV002454822 RCV002339752 RCV002454891 RCV002454896 RCV002454898 RCV002454901 RCV002339763 RCV002454941 RCV002454963 RCV002348985 RCV002353027 RCV002349046 RCV002349055 RCV002349059 RCV002349096 RCV002349170 RCV002349210 RCV002357359 RCV002357360 RCV002357377 RCV002357475 RCV002443336 RCV002443338 RCV002326484 RCV002320998 RCV002321012 RCV002459064 RCV002459067 RCV002459089 RCV002337531 RCV002459234 RCV002459251 RCV002459282 RCV002459355 RCV002459357 RCV002459369 RCV002452539 RCV002452676 RCV002452730 RCV002352991 RCV002346745 RCV002346758 RCV002364036 RCV002364096 RCV002364101 RCV002355462 RCV002355482 RCV002366235 RCV002366239 RCV002355569 RCV002359542 RCV002321187 RCV002321199 RCV002333329 RCV002333750 RCV002320888 RCV002320914 RCV002322645 RCV002322659 RCV002322662 RCV002322663 RCV002322664 RCV002322689 RCV002322707 RCV002445769 RCV002325082 RCV002454637 RCV002454654 RCV002326189 RCV002454706 RCV002460261 RCV002457313 RCV002457325 RCV002457397 RCV002457399 RCV002457402 RCV002457420 RCV002452311 RCV002452327 RCV002452336 RCV002460337 RCV002460348 RCV002452437 RCV002346615 RCV002452451 RCV002452452 RCV002346632 RCV002353081 RCV002363966 RCV002355278 RCV002355350 RCV002375553 RCV002375659 RCV002357817 RCV002357818 RCV002332176 RCV002326120 RCV002326121 RCV002326132 RCV002320543 RCV002320544 RCV002320550 RCV002320627 RCV002324831 RCV002445653 RCV002324963 RCV002324967 RCV002445665 RCV002445673 RCV002325019 RCV002325030 RCV002325039 RCV002325070 RCV002452111 RCV002452161 RCV002452186 RCV002337451 RCV002457083 RCV002460281 RCV002460282 RCV002460297 RCV002339837 RCV002455205 RCV002349257 RCV002349311 RCV002349312 RCV002349337 RCV002363846 RCV002351182 RCV002357546 RCV002373227 RCV002357639 RCV002357686 RCV002321116 RCV002375469 RCV002375473 RCV002338495 RCV002349491 RCV000491316 RCV002357891 RCV000160741 RCV000160743 RCV002358114 RCV000160744 RCV000160746 RCV002330372 RCV002340280 RCV002340347 RCV002340548 RCV002336030 RCV002347177 RCV002347218 RCV002364497 RCV002335808 RCV002346836 RCV002353709 RCV002335461 RCV002335462 RCV002351725 RCV002351764 RCV002359718 RCV002354063 RCV002364617 RCV002366807 RCV002378122 RCV002378173 RCV002449792 RCV002373717 RCV002371243 RCV002371468 RCV002371487 RCV002370787 RCV002370890 RCV002428019 RCV002430307 RCV002430318 RCV002373352 RCV002373403 RCV002378651 RCV002378652 RCV002385298 RCV002369269 RCV002367335 RCV002409670 RCV000162425 RCV002419532 RCV000164894 RCV000166981 RCV000162426 RCV002421431 RCV000165878 RCV000165096 RCV000162446 RCV000162486 RCV000165132 RCV002447848 RCV000164756 RCV002447934 RCV000167251 RCV000162451 RCV002376354 RCV002376357 RCV000166285 RCV002378491 RCV002378498 RCV002378499 RCV000167441 RCV000167133 RCV002374166 RCV000162454 RCV000165868 RCV000166596 RCV002385195 RCV000162579 RCV000164350 RCV002367206 RCV002364825 RCV002419466 RCV002445913 RCV002447604 RCV002447605 RCV002376227 RCV002371692 RCV002383193 RCV002380544 RCV002387810 RCV002387835 RCV002391947 RCV002389840 RCV002392175 RCV002392190 RCV002405836 RCV002398266 RCV002398365 RCV002398417 RCV002398486 RCV002403817 RCV002401594 RCV002401613 RCV002389383 RCV002391657 RCV002389717 RCV002389750 RCV002405490 RCV002405670 RCV002405730 RCV002403619 RCV002395021 RCV002403643 RCV002403644 RCV002410004 RCV002410020 RCV002410109 RCV002410175 RCV002410196 RCV002410219 RCV002410221 RCV002410251 RCV002410351 RCV002410356 RCV002385565 RCV002385720 RCV002385732 RCV002396677 RCV002389212 RCV002396876 RCV002403197 RCV002403291 RCV002403319 RCV002401286 RCV002401359 RCV002394906 RCV002403483 RCV002406265 RCV002406270 RCV002406313 RCV002414739 RCV002398928 RCV002404171 RCV002407857 RCV002415334 RCV002380619 RCV002380692 RCV002383566 RCV002381071 RCV002394599 RCV002392528 RCV002392553 RCV002402997 RCV002398771 RCV002392685 RCV002394846 RCV002406020 RCV002414635 RCV002414669 RCV002401728 RCV002404010 RCV002412971 RCV002412992 RCV002413042 RCV002407587 RCV002410464 RCV002410470 RCV002412922 RCV002421763 RCV002423370 RCV002423604 RCV002423626 RCV002423628 RCV002423883 RCV002417915 RCV002432798 RCV002432807 RCV002445997 RCV002446031 RCV002430646 RCV002455662 RCV002426376 RCV002426398 RCV002437249 RCV002452972 RCV002452995 RCV002408138 RCV002408268 RCV002408358 RCV002410590 RCV002421497 RCV002421644 RCV002421680 RCV002421726 RCV002419981 RCV002419988 RCV002421926 RCV002417844 RCV002457696 RCV002457704 RCV002455566 RCV002430796 RCV002437099 RCV002426184 RCV002426247 RCV002426253 RCV002426272 RCV002426326 RCV002426343 RCV002426349 RCV002410704 RCV002410812 RCV002419643 RCV002419709 RCV002419758 RCV002417586 RCV002417782 RCV002428091 RCV002428163 RCV002448148 RCV002448163 RCV002448171 RCV002428523 RCV002430744 RCV002437073 RCV002433427 RCV002433436 RCV002452743 RCV002437357 RCV002429005 RCV002429043 RCV002424288 RCV002425499 RCV002420078 RCV002420087 RCV002446223 RCV002428482 RCV002446464 RCV002459766 RCV002459822 RCV002459949 RCV002455700 RCV002455702 RCV002455724 RCV002455748 RCV002433217 RCV002455805 RCV002428706 RCV002428837 RCV002437309 RCV002441592 RCV002441627 RCV002441642 RCV002441717 RCV002453020 RCV002439508 RCV002439573 RCV002439598 RCV002439694 RCV002439730 RCV002439735 RCV002440056 RCV002440095 RCV002440158 RCV002440190 RCV002442022 RCV002437488 RCV002437556 RCV002437570 RCV002439285 RCV002439818 RCV002439880 RCV002444006 RCV002444032 RCV002444115 RCV002444145 RCV002435124 RCV002435126 RCV002435129 RCV002435130 RCV002435170 RCV002435178 RCV002435429 RCV002437740 RCV002437762 RCV002437763 RCV002437949 RCV002442154 RCV002435571 RCV000491275 RCV004652014 RCV003167729 RCV004064883 RCV004642047 RCV004642053 RCV005675048 RCV002399745 RCV000213843 RCV000491977 RCV002453724 RCV005362946 RCV004946118 RCV000222011 RCV000213447 RCV000491518 RCV000664275 RCV000491348 RCV000491378 RCV000582996 RCV000131783 RCV000491652 RCV002453733 RCV000491958 RCV000491301 RCV000491989 RCV003585329 RCV003170944 RCV000215362 RCV000491980 RCV000491176 RCV000708611 RCV000218163 RCV000220316 RCV000564868 RCV000490853 RCV000223263 RCV000491993 RCV006406658 RCV003298283 RCV002417978 RCV000491140 RCV002444869 RCV002444873 RCV000491101 RCV000491050 RCV000566381 RCV000491776 RCV000219646 RCV000215541 RCV000217160 RCV000217456 RCV000223287 RCV000221157 RCV000219907 RCV000220311 RCV000219217 RCV000214405 RCV000217977 RCV000218854 RCV000221461 RCV000217114 RCV000216834 RCV000214257 RCV000217290 RCV000219938 RCV002378963 RCV002372249 RCV000491947 RCV005443046 RCV002433946 RCV000491578 RCV002257529 RCV000580568 RCV002347859 RCV002372250 RCV000772337 RCV000202569 RCV000774609 RCV004943008 RCV005638651 RCV003176367 RCV003165182 RCV003182606 RCV003182614 RCV003182620 RCV003182626 RCV003182630 RCV003182634 RCV003182648 RCV003182649 RCV003182658 RCV003182661 RCV003300991 RCV003278510 RCV003311244 RCV003278512 RCV003311255 RCV003311259 RCV003311260 RCV003278518 RCV003278520 RCV004333271 RCV005363100 RCV004943020 RCV003350666 RCV003360798 RCV003360801 RCV003360815 RCV003360819 RCV003360821 RCV003360822 RCV003360826 RCV003360833 RCV002356397 RCV004364745 RCV005675202 RCV004654224 RCV004636740 RCV005675197 RCV004943035 RCV003585398 RCV004943036 RCV004364746 RCV005445863 RCV004943037 RCV004636741 RCV004364747 RCV004943038 RCV005638660 RCV004943039 RCV005439129 RCV005439130 RCV005439131 RCV004364748 RCV005675198 RCV006411838 RCV005363116 RCV004364749 RCV005377382 RCV005403313 RCV005675199 RCV004364750 RCV005363117 RCV004943040 RCV005675200 RCV004364755 RCV004364756 RCV005377383 RCV004368993 RCV006411869 RCV003584495 RCV003584502 RCV003585636 RCV003585638 RCV003585642 RCV003585644 RCV004654297 RCV005403394 RCV006411986 RCV004520646 RCV004520656 RCV004520664 RCV004520672 RCV004520686 RCV004520697 RCV004520704 RCV004520707 RCV004520710 RCV004520717 RCV004520725 RCV004520726 RCV004520727 RCV004520732 RCV004520733 RCV004520737 RCV004520743 RCV004520747 RCV004636893 RCV000491372 RCV002323576 RCV000490868 RCV000575337 RCV002411309 RCV002356629 RCV002339174 RCV000490988 RCV000771632 RCV000490856 RCV004943902 RCV000491375 RCV001019451 RCV002379470 RCV000491224 RCV002451123 RCV000491721 RCV000566681 RCV001017825 RCV002356689 RCV001022457 RCV000491877 RCV006406677 RCV000491081 RCV004023120 RCV000777252 RCV002341130 RCV002402395 RCV000491419 RCV002402404 RCV000490938 RCV001014127 RCV000491313 RCV005401462 RCV001016324 RCV002436530 RCV002436544 RCV000491967 RCV000491172 RCV000491243 RCV000491618 RCV000561455 RCV001020998 RCV002356772 RCV002356765 RCV000491494 RCV000491551 RCV000491173 RCV000491318 RCV000491955 RCV000491879 RCV000491743 RCV000490864 RCV000491365 RCV000490980 RCV000491266 RCV000491692 RCV000491677 RCV000491698 RCV000491015 RCV000491992 RCV000490870 RCV000491747 RCV000490855 RCV000491142 RCV000491524 RCV000490843 RCV000491213 RCV000491745 RCV000491241 RCV000491704 RCV000491319 RCV000490994 RCV000491097 RCV000491343 RCV000491835 RCV000491109 RCV000491043 RCV000490905 RCV000492003 RCV000490836 RCV000490928 RCV000491722 RCV000491799 RCV000491305 RCV000491939 RCV000491742 RCV000490945 RCV000491741 RCV000491817 RCV000491021 RCV000490891 RCV000491765 RCV000491891 RCV000491468 RCV000491193 RCV000491229 RCV000491637 RCV000490910 RCV000491350 RCV000491098 RCV000491094 RCV000491165 RCV000491106 RCV000491077 RCV000491501 RCV000491302 RCV000490839 RCV000491655 RCV000491451 RCV000491666 RCV000491089 RCV000491480 RCV000491167 RCV000491972 RCV000491962 RCV000491463 RCV000491489 RCV000491840 RCV000491533 RCV000491624 RCV000492020 RCV000491792 RCV000491347 RCV000491982 RCV000490824 RCV000491794 RCV000491166 RCV000491574 RCV000491228 RCV000491137 RCV000491083 RCV000491557 RCV000491067 RCV000491371 RCV000491256 RCV000490987 RCV001012235 RCV004023356 RCV001016632 RCV000569022 RCV000583214 RCV003278849 RCV002358383 RCV002420279 RCV005672393 RCV004943939 RCV002358396 RCV005638499 RCV001189383 RCV002384034 RCV002413435 RCV002431514 RCV002384035 RCV000573138 RCV002358432 RCV001179799 RCV000582334 RCV001020491 RCV000575306 RCV005443096 RCV001189638 RCV002384033 RCV001014206 RCV002438284 RCV004943945 RCV004639267 RCV002367766 RCV001021376 RCV000774616 RCV000128914 RCV000569131 RCV000569885 RCV000566494 RCV000568312 RCV000568637 RCV000573166 RCV000573915 RCV000569470 RCV000563894 RCV000567154 RCV000574484 RCV000562480 RCV000574496 RCV000571391 RCV000566260 RCV000574888 RCV000572959 RCV000573196 RCV000568658 RCV000570360 RCV000575049 RCV000565944 RCV000575541 RCV000562443 RCV000561109 RCV000568670 RCV000572340 RCV000575646 RCV000562198 RCV000571100 RCV000569481 RCV000576026 RCV000568683 RCV005443106 RCV000581631 RCV000581318 RCV000582014 RCV000584384 RCV000583682 RCV000582277 RCV000583803 RCV002325116 RCV003278922 RCV002438531 RCV005443109 RCV002420653 RCV004944019 RCV003278952 RCV000115404 RCV000131743 RCV001181392 RCV004025371 RCV001805232 RCV001013671 RCV002413795 RCV001015482 RCV002325201 RCV002325200 RCV002334054 RCV002448930 RCV003584681 RCV002438637 RCV001018672 RCV002325198 RCV001021488 RCV006406718 RCV002331286 RCV002397334 RCV002397335 RCV001013705 RCV004944076 RCV002325335 RCV000664274 RCV004649261 RCV001014115 RCV002352177 RCV003362908 RCV003303110 RCV000776597 RCV002369973 RCV002422478 RCV002424656 RCV002440471 RCV005443143 RCV005443137 RCV006406730 RCV003279022 RCV003163210 RCV000708613 RCV000708612 RCV002352259 RCV001021190 RCV002422646 RCV002386323 RCV001805840 RCV001021019 RCV002352270 RCV000773559 RCV000772833 RCV000777531 RCV000773949 RCV000772207 RCV002422672 RCV002440619 RCV001009751 RCV002325536 RCV002458430 RCV005367591 RCV002370078 RCV002388504 RCV002388493 RCV002406754 RCV002422764 RCV002427015 RCV001184647 RCV001015780 RCV003166121 RCV004944223 RCV002440701 RCV002440757 RCV002319581 RCV002325541 RCV003353056 RCV001021106 RCV002352387 RCV004944699 RCV005682399 RCV005367564 RCV002427080 RCV002352477 RCV002427089 RCV002434052 RCV002327213 RCV002445160 RCV001027047 RCV001015931 RCV001026426 RCV001026641 RCV001018658 RCV001016987 RCV001017257 RCV001010085 RCV001010208 RCV001010222 RCV001011200 RCV001011198 RCV001012496 RCV001012525 RCV001012710 RCV001013434 RCV001014008 RCV001014168 RCV001014758 RCV001014787 RCV001015509 RCV001016149 RCV001016284 RCV001016441 RCV001016659 RCV001016756 RCV001016893 RCV001018504 RCV001018738 RCV001018833 RCV001019232 RCV001019229 RCV001019393 RCV001019450 RCV001019452 RCV001020091 RCV001020254 RCV001020390 RCV001020593 RCV001020613 RCV001020737 RCV001021075 RCV001021157 RCV001021164 RCV001021219 RCV001021248 RCV001021257 RCV001021315 RCV001021371 RCV001018969 RCV001020600 RCV001020791 RCV001021191 RCV001021639 RCV004639443 RCV002348455 RCV002365744 RCV002393295 RCV002393274 RCV002379631 RCV003307835 RCV003363085 RCV002451233 RCV003160528 RCV002320229 RCV005672561 RCV002451255 RCV001177109 RCV001183686 RCV001182396 RCV001179915 RCV001178401 RCV001190006 RCV001176241 RCV001184683 RCV001183857 RCV001186569 RCV001187505 RCV001175793 RCV001190323 RCV002411724 RCV004649481 RCV002379810 RCV002379819 RCV001524342 RCV002402621 RCV003584864 RCV002356993 RCV002411838 RCV002348762 RCV000162441 RCV000129834 RCV001009985 RCV000160740 RCV000128873 RCV000491070 RCV000222326 RCV000491001 RCV005251057 RCV000131420 RCV000491949 RCV000491242 RCV002399427 RCV000115378 RCV000575511 RCV000491054 RCV000564199 RCV002408570 RCV002408571 RCV002408572 RCV002408573 RCV001013617 RCV001191931 RCV000491528 RCV000128865 RCV000162397 RCV000165752 RCV001186406 RCV001014449 RCV003584540 RCV000130308 RCV000162408 RCV000490877 RCV000132226 RCV000491736 RCV000162422 RCV005672317 RCV002448291 RCV000491787 RCV000218020 RCV001015798 RCV002426627 RCV002433571 RCV002426628 RCV000129807 RCV000491845 RCV002433572 RCV000491935 RCV004943737 RCV000491868 RCV000490869 RCV000491673 RCV000491215 RCV002433574 RCV000491707 RCV001018330 RCV000491450 RCV000223452 RCV000491377 RCV000115402 RCV000565688 RCV000567808 RCV005372231 RCV000160692 RCV000162445 RCV000115411 RCV000115412 RCV004943739 RCV000573738 RCV000223509 RCV000574023 RCV000490849 RCV000561009 RCV002453381 RCV000491481 RCV000130487 RCV000131534 RCV000491292 RCV004639133 RCV000162609 RCV000166347 RCV002453382 RCV004019096 RCV002336221 RCV000166108 RCV000491917 RCV002345375 RCV002345376 RCV000567987 RCV000129144 RCV001185021 RCV002345377 RCV000491038 RCV000491355 RCV000214022 RCV002362701 RCV000491396 RCV000214756 RCV003352767 RCV002371906 RCV000491665 RCV000129554 RCV000215904 RCV000131963 RCV000491060 RCV000491705 RCV002326786 RCV001190339 RCV000490955 RCV004019097 RCV003162479 RCV001025256 RCV002362702 RCV002362703 RCV002362704 RCV002362705 RCV000220361 RCV002381377 RCV000490932 RCV003162480 RCV000130865 RCV002375301 RCV003284130 RCV004649545 RCV002322167 RCV002436987 RCV005438965 RCV002375330 RCV000491158 RCV000162479
Hereditary nonpolyposis colon cancer	Likely pathogenic; Pathogenic	rs2104431856, rs1572727797, rs1553414236, rs2104380945, rs41295278, rs2104307566, rs878853724, rs63751427, rs63750119, rs587781462, rs587781691, rs587782111, rs587779264, rs587782712, rs2530672426 View all (106 more)	RCV001732814 RCV001732815 RCV001779491 RCV001806712 RCV001806823 RCV005057826 RCV002509719 RCV006268619 RCV000230170 RCV001251301 RCV001824640 RCV003103734 RCV005237573 RCV003155083 RCV002282813 RCV005055652 RCV001260256 RCV002472381 RCV003155478 RCV001193128 RCV004525833 RCV003114314 RCV003323419 RCV001192427 RCV001420827 RCV001255565 RCV002469952 RCV002510272 RCV003114364 RCV001804174 RCV001193123 RCV001194361 RCV001375485 RCV002271474 RCV001328390 RCV004689683 RCV001193699 RCV001328436 RCV001255467 RCV002223129 RCV003317673 RCV003404874 RCV003493347 RCV001192428 RCV001192458 RCV002469155 RCV001199932 RCV005431683 RCV005407121 RCV001192426 RCV001194363 RCV001192493 RCV001805110 RCV002307521 RCV001293606 RCV004701552 RCV001194391 RCV001844178 RCV001797740 RCV004701565 RCV004701566 RCV001193726 RCV001193100 RCV001263515 RCV004767392 RCV000585938 RCV000589697 RCV003117420 RCV003323369 RCV001824584 RCV001194332 RCV003323644 RCV001193096 RCV003323684 RCV002282352 RCV003317376 RCV005902102 RCV001358735 RCV004526074 RCV001192422 RCV001193125 RCV001193731 RCV001193099 RCV001201268 RCV001201190 RCV003993788 RCV003478993 RCV001535637 RCV004700371 RCV002469003 RCV004799776 RCV003317076 RCV001290557 RCV001526863 RCV002222379 RCV002281906 RCV001731360 RCV002271398 RCV002281907 RCV001263506 RCV001290595 RCV001194362 RCV001175453 RCV001263505 RCV001194394 RCV003389678 RCV000780464 RCV003483460 RCV001526853 RCV005406804 RCV005890435 RCV003230394 RCV001532986 RCV003492402 RCV004782042 RCV001420852 RCV004799778 RCV004782043 RCV001193103 RCV002265599 RCV001293484
Hereditary nonpolyposis colorectal carcinoma	Likely pathogenic; Pathogenic	rs886044911, rs1064793185	RCV000351125 RCV000490670
Hereditary nonpolyposis colorectal neoplasms	Likely pathogenic; Pathogenic	rs2104241415, rs2104287071, rs1553332772, rs2104535143, rs746306598, rs2103932373, rs2103935655, rs2103936997, rs2104098243, rs786202772, rs2104110751, rs63749873, rs2104229850, rs1553411409, rs2104238107 View all (866 more)	RCV001378800 RCV001378331 RCV001378663 RCV001378802 RCV001387656 RCV001383963 RCV001381286 RCV001386570 RCV001385016 RCV001390264 RCV001390672 RCV001381543 RCV001382920 RCV001384144 RCV001387214 RCV001389525 RCV001382922 RCV001386582 RCV001385384 RCV001383947 RCV001383733 RCV001385407 RCV001381288 RCV001381304 RCV001386577 RCV001381334 RCV001380514 RCV001387442 RCV001386927 RCV001384347 RCV001390008 RCV001380336 RCV001381480 RCV001380111 RCV001385245 RCV001390011 RCV001381422 RCV001384389 RCV001387815 RCV001381058 RCV001389338 RCV001384913 RCV001391020 RCV001383272 RCV001384778 RCV001383969 RCV001381415 RCV001386762 RCV001386550 RCV003759116 RCV001380468 RCV001385795 RCV001383244 RCV001873675 RCV005094756 RCV001859378 RCV005094912 RCV001861037 RCV003594156 RCV002034538 RCV002034601 RCV003593911 RCV001216258 RCV000524659 RCV000544323 RCV001854549 RCV000477380 RCV001884787 RCV002014849 RCV001874473 RCV001870427 RCV002012824 RCV001881417 RCV001994545 RCV001999840 RCV001994578 RCV001994584 RCV002514591 RCV001899679 RCV001929573 RCV001941660 RCV001941822 RCV001953252 RCV001995237 RCV001938491 RCV001932056 RCV001964910 RCV002028643 RCV001987594 RCV001911044 RCV001934967 RCV002050723 RCV001967444 RCV001888401 RCV001910782 RCV001914376 RCV001989989 RCV001870602 RCV001952718 RCV002041099 RCV001892249 RCV001909482 RCV001994794 RCV001993173 RCV001974193 RCV001924413 RCV001926663 RCV001957424 RCV001994650 RCV002037763 RCV001994655 RCV001994683 RCV001876327 RCV001916077 RCV002007546 RCV001874831 RCV001942089 RCV001941846 RCV001864513 RCV002037944 RCV002002510 RCV002002526 RCV001941526 RCV002032981 RCV001946789 RCV001970232 RCV001951128 RCV001951160 RCV001967646 RCV001991495 RCV001946666 RCV001970084 RCV001972833 RCV001883408 RCV001902558 RCV001972718 RCV001956068 RCV001949390 RCV001972767 RCV001972796 RCV001949420 RCV001972809 RCV002051202 RCV001932905 RCV001901582 RCV001982036 RCV001944002 RCV001951437 RCV001959196 RCV001930954 RCV001948658 RCV001975074 RCV001906770 RCV001984497 RCV000542403 RCV001034637 RCV001849919 RCV000558194 RCV001955108 RCV000477388 RCV000804902 RCV001892415 RCV000477160 RCV000540383 RCV001922312 RCV000545922 RCV001957644 RCV000819698 RCV001237131 RCV000804633 RCV001046832 RCV000541079 RCV000200490 RCV000542464 RCV003094032 RCV003594178 RCV005096149 RCV003099559 RCV003594198 RCV003594202 RCV003759103 RCV005096353 RCV003759117 RCV003759121 RCV003594187 RCV003759104 RCV005096400 RCV003594190 RCV003759110 RCV005096390 RCV003759119 RCV003102489 RCV003094461 RCV000627696 RCV002229430 RCV000464722 RCV001390759 RCV000698894 RCV003096510 RCV003096619 RCV003594211 RCV003594231 RCV003099897 RCV000524100 RCV001223107 RCV000231303 RCV001382641 RCV001044962 RCV000553513 RCV000465468 RCV001381729 RCV003103515 RCV000629924 RCV000524135 RCV005089824 RCV000707705 RCV001229364 RCV000535731 RCV000795134 RCV000630201 RCV000168228 RCV003095010 RCV003759684 RCV003759698 RCV005097750 RCV003759705 RCV005098045 RCV005098221 RCV003102044 RCV005098230 RCV003102060 RCV003097376 RCV005097902 RCV003759708 RCV005098150 RCV003098619 RCV003594295 RCV003102740 RCV003102157 RCV005098335 RCV003102873 RCV003759753 RCV003759754 RCV000168455 RCV002651467 RCV002569431 RCV002574752 RCV002685685 RCV002734857 RCV002745447 RCV002780483 RCV002828520 RCV002806856 RCV002825169 RCV002801783 RCV002810127 RCV002819750 RCV002815831 RCV002815913 RCV002856964 RCV002839488 RCV002846682 RCV002851664 RCV002830083 RCV002866787 RCV002847503 RCV002852288 RCV002847214 RCV002871653 RCV002871091 RCV002889673 RCV002877176 RCV002899228 RCV002913905 RCV002867588 RCV002877544 RCV002877405 RCV002882016 RCV002922723 RCV002909977 RCV002947564 RCV002952788 RCV002958439 RCV000196898 RCV000791395 RCV001389260 RCV000197466 RCV001383571 RCV002979162 RCV002976679 RCV002999538 RCV002996699 RCV000203910 RCV000629753 RCV005208553 RCV005090020 RCV001214338 RCV005090021 RCV001039124 RCV000554689 RCV000524172 RCV000233857 RCV001853253 RCV000694262 RCV000533181 RCV001853254 RCV001853255 RCV003008395 RCV003021842 RCV003016887 RCV003037456 RCV003012020 RCV003006245 RCV003017982 RCV003031391 RCV003017388 RCV003033785 RCV003040386 RCV003052009 RCV003033238 RCV003025279 RCV003051528 RCV003055696 RCV003036751 RCV003052107 RCV003044255 RCV000471873 RCV000206852 RCV000204908 RCV001382365 RCV000704855 RCV001034622 RCV000204275 RCV000684808 RCV001063007 RCV000692262 RCV001243735 RCV000557139 RCV000688578 RCV001854744 RCV000458194 RCV000630084 RCV000690322 RCV000801331 RCV000793054 RCV003593938 RCV001070153 RCV001041029 RCV000229744 RCV002515625 RCV001363003 RCV000226322 RCV000699751 RCV000823682 RCV000459481 RCV001057806 RCV001340699 RCV000228751 RCV001388386 RCV003765456 RCV000232801 RCV000233999 RCV000233953 RCV000228304 RCV001386273 RCV002229653 RCV000230591 RCV000231436 RCV000524211 RCV001069945 RCV003594319 RCV003759793 RCV000539680 RCV003594689 RCV003759854 RCV003759856 RCV003594674 RCV003759850 RCV003759851 RCV003759852 RCV003759853 RCV005100129 RCV005100130 RCV003759855 RCV005100131 RCV005251363 RCV003594675 RCV003594676 RCV003594677 RCV003759857 RCV003594678 RCV003759858 RCV003759859 RCV003759860 RCV003759861 RCV003759862 RCV003594705 RCV003594765 RCV003594850 RCV003594725 RCV003594822 RCV003595142 RCV003595058 RCV003595176 RCV003595045 RCV003595035 RCV003595114 RCV003595428 RCV003595560 RCV003593566 RCV003593524 RCV003593781 RCV003593607 RCV003593706 RCV003593731 RCV003593733 RCV003593848 RCV003593666 RCV003593659 RCV003593788 RCV003593826 RCV003594351 RCV003594388 RCV003594464 RCV003594413 RCV003594448 RCV003760779 RCV003760864 RCV003760970 RCV003758241 RCV003758409 RCV003758398 RCV003758501 RCV003758622 RCV003758669 RCV003759226 RCV003759311 RCV003759356 RCV003759410 RCV003759297 RCV003859155 RCV005104640 RCV005102038 RCV000473148 RCV000684804 RCV000527691 RCV002521554 RCV002230105 RCV000466552 RCV002230410 RCV002230398 RCV000462642 RCV000470184 RCV000462389 RCV000473969 RCV002230123 RCV002230108 RCV000460971 RCV002230420 RCV000791425 RCV002230127 RCV000475044 RCV000470844 RCV000469257 RCV000472587 RCV000471270 RCV002230406 RCV000463357 RCV002230422 RCV002230104 RCV000465518 RCV000629811 RCV005090931 RCV001851234 RCV001388502 RCV003758788 RCV000685620 RCV001036388 RCV000685973 RCV000552884 RCV001213007 RCV000696931 RCV001381214 RCV001037717 RCV000794243 RCV001851149 RCV001211419 RCV000697841 RCV001067391 RCV002526595 RCV001851215 RCV000695362 RCV001225210 RCV000629708 RCV001383954 RCV001208053 RCV000703232 RCV000539104 RCV001062160 RCV000690593 RCV001384106 RCV000823394 RCV000695219 RCV001387270 RCV001063240 RCV001851339 RCV001851343 RCV003758797 RCV000630168 RCV000812630 RCV001223369 RCV001383735 RCV000529324 RCV001865528 RCV001856942 RCV000540287 RCV000554919 RCV000696635 RCV003593970 RCV001856939 RCV000798290 RCV001383262 RCV001204100 RCV001851335 RCV001380732 RCV000792632 RCV001385943 RCV002523979 RCV003114616 RCV003593969 RCV001230938 RCV000697041 RCV001383493 RCV001851342 RCV001390928 RCV001856943 RCV000629920 RCV005091022 RCV000703833 RCV000689480 RCV001047501 RCV003766761 RCV001851337 RCV002527062 RCV000799829 RCV005091019 RCV005091020 RCV001062176 RCV001390334 RCV001053878 RCV001851336 RCV000543375 RCV001381431 RCV000704103 RCV000538459 RCV002527180 RCV002524136 RCV001857067 RCV000629986 RCV001380321 RCV002527181 RCV003758803 RCV002524137 RCV001035303 RCV005091129 RCV001036493 RCV000530099 RCV000546537 RCV000536800 RCV000546692 RCV000536802 RCV000558657 RCV000532502 RCV000542805 RCV000545511 RCV000558946 RCV000560496 RCV000535877 RCV000528887 RCV000525128 RCV000554909 RCV000549788 RCV000526561 RCV000555780 RCV000530070 RCV000546807 RCV000545887 RCV000558561 RCV000551797 RCV000551310 RCV000531933 RCV000559237 RCV000542367 RCV000530723 RCV000543984 RCV000534278 RCV000536924 RCV000527310 RCV000547566 RCV000527794 RCV000532398 RCV000539061 RCV000542256 RCV000528164 RCV000524183 RCV000695473 RCV000688705 RCV005091431 RCV003593981 RCV003758844 RCV003758845 RCV000687461 RCV001865721 RCV001387836 RCV002528142 RCV000811761 RCV000630118 RCV001853718 RCV001858113 RCV000702005 RCV003593989 RCV001853719 RCV000629675 RCV000791986 RCV002529253 RCV001048652 RCV003758867 RCV000698150 RCV001383181 RCV001867896 RCV001860121 RCV001040765 RCV000816242 RCV000688489 RCV003594011 RCV000697257 RCV000524203 RCV000629952 RCV000629779 RCV000629713 RCV000629824 RCV000629964 RCV000630165 RCV000630190 RCV000629869 RCV000629769 RCV000629823 RCV000630229 RCV000630128 RCV000630189 RCV000630200 RCV000629763 RCV000630038 RCV000630176 RCV000630182 RCV000630174 RCV000629894 RCV000629914 RCV000629667 RCV000630021 RCV000629907 RCV000629848 RCV000705277 RCV001386205 RCV003758896 RCV001390324 RCV000699652 RCV000686486 RCV000690979 RCV000702674 RCV000703109 RCV000702506 RCV000701751 RCV000699082 RCV000701004 RCV000685854 RCV000686029 RCV000707158 RCV000698797 RCV000706233 RCV000687847 RCV000695381 RCV000694583 RCV000691037 RCV000694044 RCV000687726 RCV000692346 RCV000694103 RCV000703058 RCV000701122 RCV000690445 RCV000689094 RCV000694925 RCV000689670 RCV000700703 RCV000696948 RCV003758910 RCV002536550 RCV001061933 RCV002536576 RCV005092254 RCV005092241 RCV003594037 RCV000823476 RCV000800810 RCV000795822 RCV000808014 RCV000811340 RCV000819777 RCV000794279 RCV000801765 RCV000822820 RCV000794858 RCV000804092 RCV000815858 RCV000808596 RCV000802858 RCV000797690 RCV000806221 RCV000799397 RCV000815971 RCV000812027 RCV000806058 RCV000804861 RCV000794774 RCV000821632 RCV000821344 RCV000803777 RCV000811578 RCV000803390 RCV000809285 RCV000801766 RCV000803086 RCV000794887 RCV000815894 RCV000792501 RCV000806883 RCV000820897 RCV000811669 RCV000823442 RCV000803405 RCV000800963 RCV000798211 RCV000823798 RCV002536057 RCV001388972 RCV003594042 RCV001386189 RCV002550593 RCV005093019 RCV001873409 RCV001039831 RCV001047126 RCV003758959 RCV001860755 RCV001222639 RCV001860820 RCV001058469 RCV002549439 RCV001860846 RCV001860929 RCV002549501 RCV002551825 RCV001860984 RCV001231905 RCV001873335 RCV003594079 RCV001384168 RCV001205730 RCV001861014 RCV003758986 RCV001860991 RCV002551836 RCV001049297 RCV001071722 RCV001070468 RCV001063414 RCV001039925 RCV001062942 RCV001060634 RCV001055202 RCV001071137 RCV001057020 RCV001043713 RCV001055947 RCV001043808 RCV001057339 RCV001048297 RCV001039043 RCV001057010 RCV001064448 RCV001035709 RCV001053044 RCV001070767 RCV001063768 RCV001062280 RCV001039990 RCV001035230 RCV001053131 RCV001060246 RCV001221843 RCV001875956 RCV001859140 RCV002560860 RCV001382590 RCV001202838 RCV003759028 RCV001214344 RCV001217699 RCV001214936 RCV001215973 RCV001214922 RCV001215105 RCV001215598 RCV001215459 RCV001205983 RCV001208231 RCV001207140 RCV001209879 RCV001210192 RCV001208468 RCV001204501 RCV001227496 RCV001231113 RCV001226615 RCV001227347 RCV001226422 RCV001236025 RCV000524101 RCV000629947 RCV000704633 RCV001045033 RCV000791437 RCV000627730 RCV000540977 RCV000524108 RCV000524112 RCV000798747 RCV001070809 RCV001383736 RCV000630020 RCV000529714 RCV000791380 RCV001854275 RCV000558537 RCV003593866 RCV003593867 RCV000524125 RCV001060756 RCV003593869 RCV000524130 RCV000530716 RCV001049192 RCV000822642 RCV000629877 RCV001854277 RCV000690199 RCV000524132 RCV001206112 RCV000524134 RCV001203081 RCV000524139 RCV003594289 RCV000556290 RCV001223542 RCV000530811 RCV003593870 RCV002514329 RCV000524149 RCV001056241 RCV001854279 RCV005089501 RCV003593871 RCV002514330 RCV003758685 RCV001062414 RCV000808924 RCV000524151 RCV002514331 RCV000687014 RCV000524153 RCV000531248 RCV000524154 RCV000627710 RCV000822708 RCV001381215 RCV000524156 RCV000524159 RCV000524165 RCV000524166 RCV000629992 RCV000630139 RCV000630183 RCV001854281 RCV001854282 RCV001038331 RCV000629768 RCV000629776 RCV000524176 RCV002513797 RCV000791426 RCV000630154 RCV000627713 RCV000792268 RCV001302789 RCV002514332 RCV000791366 RCV001854283 RCV002513798 RCV000704903 RCV000524185 RCV001381216 RCV000546623 RCV003593872 RCV000703066 RCV000684821 RCV001229855 RCV000627732 RCV000524190 RCV000692457 RCV001854285 RCV000524196 RCV000524197 RCV000524198 RCV001854286 RCV000524201 RCV000812861 RCV000812440 RCV000542786 RCV000524207 RCV005089502 RCV001071476 RCV000703480 RCV001386352 RCV001383732 RCV000704209 RCV002513799 RCV000524215 RCV005089503 RCV000629720 RCV000551832 RCV001241087 RCV001247576 RCV001246763 RCV003594123 RCV003759035 RCV005057174 RCV003594126 RCV000456684 RCV000200371
Inherited MMR deficiency (Lynch syndrome)	Likely pathogenic; Pathogenic	rs587779778, rs63751427, rs267608083, rs2530696539, rs2530319288, rs1553414010, rs753796271, rs1054003194, rs1572727440, rs63750741, rs63750833, rs63750617, rs267608078, rs587779263, rs587779264 View all (6 more)	RCV005252760 RCV006257274 RCV004808604 RCV004584298 RCV004584301 RCV006255171 RCV005239092 RCV004584218 RCV005860152 RCV005252731 RCV006436423 RCV004808573 RCV004584186 RCV004808574 RCV004584187 RCV005237499 RCV006277699 RCV004691746 RCV006277700 RCV005237500 RCV006439624
Inherited polyposis and early onset colorectal cancer - germline testing	Likely pathogenic; Pathogenic	rs1114167729, rs267608078	RCV006438098 RCV006277698
Inherited prostate cancer	Likely pathogenic; Pathogenic	rs863225406, rs63750617	RCV006272135 RCV004584185
Lynch syndrome	Likely pathogenic; Pathogenic	rs774755404, rs747924946, rs2104547230, rs1114167803, rs1553414236, rs2104290462, rs587779778, rs587779254, rs200492211, rs587779941, rs587780538, rs63750119, rs267608064, rs587781408, rs587781691 View all (287 more)	RCV004017826 RCV004803679 RCV001775042 RCV001775048 RCV004009051 RCV004017870 RCV000114750 RCV000114751 RCV000500240 RCV005055438 RCV004806067 RCV003997478 RCV003997490 RCV005629496 RCV003997531 RCV000607246 RCV004017416 RCV005629498 RCV004017417 RCV000780461 RCV004005624 RCV004017924 RCV000231648 RCV000205295 RCV000590196 RCV000199142 RCV003995199 RCV000210176 RCV003995196 RCV003995592 RCV003995205 RCV000826202 RCV005055459 RCV004017936 RCV004007454 RCV003995628 RCV000196707 RCV000195900 RCV000196323 RCV004007738 RCV000825624 RCV003997046 RCV000501351 RCV000500492 RCV000233414 RCV000781589 RCV003997048 RCV000206750 RCV005629513 RCV000203704 RCV000204888 RCV000206842 RCV000210100 RCV000210152 RCV001535644 RCV000586672 RCV004806248 RCV003998624 RCV000680209 RCV005055440 RCV004804882 RCV001810439 RCV000231668 RCV000231145 RCV000226342 RCV000781603 RCV000232271 RCV000075018 RCV003996081 RCV004009720 RCV005055463 RCV005055464 RCV005629688 RCV004017990 RCV004011500 RCV004015081 RCV004013948 RCV004011771 RCV004015484 RCV004018091 RCV004018092 RCV004018163 RCV003995915 RCV004806325 RCV004001829 RCV000457937 RCV005055442 RCV003483627 RCV004017637 RCV000515764 RCV000586064 RCV004003322 RCV000825625 RCV000586921 RCV004003463 RCV004003458 RCV000122953 RCV004003454 RCV004556790 RCV000167893 RCV004017645 RCV005401469 RCV000504512 RCV004003452 RCV000588486 RCV000588300 RCV004802096 RCV000588908 RCV004003519 RCV000664307 RCV000501318 RCV004003550 RCV004003673 RCV000030271 RCV000780477 RCV004802235 RCV004017688 RCV000587991 RCV000612966 RCV000602898 RCV000601053 RCV000035322 RCV000035325 RCV000826200 RCV000781601 RCV005055444 RCV000780486 RCV003999789 RCV000790733 RCV000758619 RCV003999908 RCV000781581 RCV000781598 RCV000781998 RCV000781993 RCV000826201 RCV000825599 RCV000825600 RCV000826178 RCV004017777 RCV005055449 RCV004004537 RCV004807262 RCV004017775 RCV004004613 RCV004004606 RCV004807286 RCV004004819 RCV000074630 RCV000074632 RCV000074633 RCV000074635 RCV000074636 RCV000074640 RCV000074641 RCV000074646 RCV000074647 RCV000074651 RCV000074655 RCV000074656 RCV000074658 RCV000074659 RCV000074665 RCV000074666 RCV000074667 RCV000074668 RCV000074669 RCV000074670 RCV000074672 RCV000074673 RCV000074674 RCV000074676 RCV000074683 RCV000074686 RCV000074687 RCV000074688 RCV000074690 RCV000074694 RCV000074696 RCV000074699 RCV000074706 RCV000074707 RCV000074709 RCV000074710 RCV000074711 RCV000074717 RCV000074718 RCV000074719 RCV000074720 RCV000074725 RCV000074726 RCV000074732 RCV000074736 RCV000074739 RCV000074742 RCV000074750 RCV000074751 RCV000074755 RCV000074768 RCV000074773 RCV000074775 RCV000074776 RCV000074777 RCV000074779 RCV000074780 RCV000074781 RCV000074783 RCV000074785 RCV000074788 RCV000074789 RCV000074791 RCV000074793 RCV000074794 RCV000074795 RCV000074796 RCV003997084 RCV000074799 RCV000074801 RCV000074803 RCV000074804 RCV000074805 RCV000074809 RCV000074812 RCV000074814 RCV000074815 RCV000074816 RCV000074817 RCV000074822 RCV003997086 RCV000074828 RCV000074830 RCV000074831 RCV000074832 RCV000074833 RCV000074834 RCV000074837 RCV000074838 RCV000074839 RCV000074840 RCV000074841 RCV000074842 RCV000074843 RCV000074844 RCV000074849 RCV000074854 RCV000074858 RCV000074859 RCV000074867 RCV000074869 RCV000074871 RCV000074872 RCV000074873 RCV000074875 RCV000074876 RCV003997093 RCV000074893 RCV000074895 RCV000074901 RCV000074902 RCV000074903 RCV000074908 RCV000074912 RCV000074918 RCV000074921 RCV000074922 RCV000074924 RCV000074926 RCV000074927 RCV000074930 RCV000074931 RCV000074937 RCV000074939 RCV000074940 RCV000074942 RCV000074943 RCV000074946 RCV000074948 RCV000074949 RCV000074951 RCV000074953 RCV000074954 RCV000074956 RCV000074960 RCV000074963 RCV000074964 RCV000074966 RCV000074969 RCV000074974 RCV000074987 RCV000074993 RCV000075000 RCV000075003 RCV000075006 RCV000075008 RCV000075015 RCV000075016 RCV000075019 RCV000075025 RCV000075026 RCV000075027 RCV000075028 RCV000075029 RCV000075030 RCV000075032 RCV000075035 RCV000075036 RCV000075038 RCV000075039 RCV000075043 RCV004017809 RCV004017816 RCV002272057 RCV003997195
Lynch syndrome 1	Likely pathogenic; Pathogenic	rs1558392617, rs587781462, rs587783056, rs63749919, rs876661073, rs398123231, rs63750955, rs1669447063, rs2530644208, rs2530804790, rs2104552999, rs1060502901, rs1553413253, rs1553414239, rs1553412495 View all (24 more)	RCV002284495 RCV000622945 RCV000144627 RCV000623975 RCV005861092 RCV004668863 RCV001804722 RCV003229514 RCV003229516 RCV003229517 RCV005861342 RCV000623149 RCV004555869 RCV004669049 RCV000622394 RCV000680206 RCV000680208 RCV000755028 RCV000755029 RCV000791336 RCV005861217 RCV002463634 RCV001804803 RCV001804804 RCV001310160 RCV001804805 RCV001804806 RCV000172816 RCV000074823 RCV005409614 RCV002272051 RCV005861042 RCV005409615 RCV001804808 RCV001804809 RCV000144625 RCV000172813 RCV001310159 RCV005861043
Lynch syndrome 4	Likely pathogenic	rs587779264	RCV004555853
Lynch syndrome 5	Pathogenic; Likely pathogenic	rs2104405276, rs876660853, rs2104510085, rs2104241415, rs746306598, rs2103936997, rs786202772, rs1553411409, rs2104288054, rs2104293218, rs2104340974, rs2104376613, rs2104377567, rs2104401401, rs2104429347 View all (938 more)	RCV003450003 RCV004789543 RCV003449999 RCV003336389 RCV003450077 RCV003450070 RCV003451690 RCV003450060 RCV003451685 RCV004037659 RCV003450065 RCV003450061 RCV003451687 RCV003450050 RCV004037671 RCV003451688 RCV002466673 RCV005423983 RCV003316864 RCV003450067 RCV003451793 RCV003451795 RCV004039307 RCV001706956 RCV003451869 RCV003451870 RCV001775212 RCV001775213 RCV003451926 RCV003451930 RCV003451941 RCV003451945 RCV005600659 RCV003453034 RCV004019610 RCV002288592 RCV003453036 RCV003453037 RCV003453038 RCV003451999 RCV003453943 RCV003452060 RCV003453846 RCV003453847 RCV003453048 RCV003452039 RCV004044331 RCV003453860 RCV003452162 RCV003452007 RCV004041858 RCV003453823 RCV003452188 RCV003453839 RCV003447608 RCV003453842 RCV002243498 RCV003453851 RCV003452141 RCV003453863 RCV003453861 RCV003453855 RCV003453856 RCV003453857 RCV003453870 RCV003453944 RCV003453867 RCV003453868 RCV003453881 RCV003453875 RCV003453879 RCV003453880 RCV003452147 RCV003453888 RCV003453887 RCV003452166 RCV003452201 RCV003452132 RCV003453058 RCV000663091 RCV003453060 RCV000986717 RCV003452207 RCV000410431 RCV003453064 RCV003453068 RCV003453069 RCV003453070 RCV003453072 RCV004041275 RCV003453074 RCV003453077 RCV003453079 RCV003453080 RCV003453087 RCV003453089 RCV001267890 RCV003453095 RCV003453097 RCV001258039 RCV002244287 RCV003454049 RCV005621161 RCV002272604 RCV002272678 RCV003454064 RCV002290171 RCV003454080 RCV003316863 RCV003454112 RCV003454119 RCV003454120 RCV003454121 RCV003454143 RCV003454102 RCV003454111 RCV003454117 RCV003454118 RCV003454131 RCV003454132 RCV003454140 RCV003454141 RCV003454149 RCV005421256 RCV003454101 RCV005601891 RCV003454110 RCV004793766 RCV003454114 RCV003454115 RCV003454127 RCV005397386 RCV003454129 RCV003454137 RCV004793770 RCV003454151 RCV005397383 RCV003454104 RCV003454105 RCV003454106 RCV003454122 RCV005025796 RCV003454126 RCV003454135 RCV003454144 RCV003454145 RCV003454147 RCV003454148 RCV003453273 RCV000409404 RCV003453272 RCV000663331 RCV003453274 RCV003454155 RCV003336549 RCV003454161 RCV003454181 RCV003454186 RCV003454191 RCV003454214 RCV003454219 RCV003454182 RCV000202528 RCV003454401 RCV002288709 RCV003454409 RCV003454402 RCV003454390 RCV003454393 RCV002288738 RCV003454421 RCV001535485 RCV003454413 RCV003454422 RCV003454391 RCV003454414 RCV000659896 RCV002288734 RCV003454217 RCV003316868 RCV003454239 RCV003454252 RCV005621193 RCV003454258 RCV003454249 RCV003454251 RCV003454255 RCV003454256 RCV003454288 RCV003454289 RCV003454248 RCV003336703 RCV005424894 RCV003454260 RCV003454284 RCV005869824 RCV003454291 RCV003454290 RCV003455458 RCV004062966 RCV005248792 RCV003455485 RCV003455486 RCV003454307 RCV003455484 RCV005869836 RCV003455479 RCV003455481 RCV003455489 RCV004062276 RCV005621207 RCV003455503 RCV003455504 RCV003455494 RCV003455501 RCV003455502 RCV003455514 RCV005869841 RCV003455496 RCV003455497 RCV003455499 RCV004763419 RCV003455506 RCV003454425 RCV002468857 RCV003138281 RCV005601920 RCV003455559 RCV003455562 RCV003455570 RCV002795905 RCV003455578 RCV003455585 RCV003455586 RCV003455587 RCV003316875 RCV003455590 RCV003455592 RCV003455595 RCV003455614 RCV003454497 RCV003454504 RCV003454527 RCV003454535 RCV003454524 RCV003454525 RCV003454526 RCV003454528 RCV005600811 RCV003454529 RCV003454530 RCV003454531 RCV003454532 RCV003454533 RCV005863044 RCV003454534 RCV003455661 RCV003455659 RCV003455665 RCV003455667 RCV003455669 RCV003454537 RCV003454546 RCV000576302 RCV003477700 RCV003454545 RCV003454553 RCV003454554 RCV003454671 RCV003454672 RCV003454665 RCV003454680 RCV003454678 RCV003454664 RCV003454677 RCV002467444 RCV003454670 RCV000576807 RCV005361359 RCV003454616 RCV003454652 RCV003454626 RCV003454625 RCV003454645 RCV003454655 RCV003454648 RCV000763498 RCV003454642 RCV003454621 RCV003316228 RCV003454696 RCV000576736 RCV003454688 RCV003454689 RCV003454690 RCV003454691 RCV003454692 RCV003454693 RCV003454694 RCV003454695 RCV000009487 RCV000009488 RCV003450623 RCV003140319 RCV003140326 RCV003140335 RCV003140351 RCV003140368 RCV003455767 RCV003455768 RCV003455776 RCV003336830 RCV003455790 RCV003316930 RCV003316946 RCV003316989 RCV003455799 RCV003334433 RCV003334434 RCV003334440 RCV003336919 RCV003337110 RCV003334745 RCV003334751 RCV003334775 RCV003334777 RCV003335752 RCV003335762 RCV003455805 RCV003455806 RCV003455807 RCV003455808 RCV003454836 RCV005399406 RCV003450284 RCV003450360 RCV003450367 RCV003450428 RCV003450345 RCV003450361 RCV003450282 RCV003450211 RCV003450213 RCV003450214 RCV003450215 RCV003450216 RCV003450217 RCV003450218 RCV003450219 RCV003450220 RCV003450221 RCV003450222 RCV003450223 RCV003450224 RCV003450226 RCV003450227 RCV003450228 RCV003450229 RCV003450230 RCV003450231 RCV003450233 RCV003450234 RCV003450235 RCV003450236 RCV003450238 RCV003450239 RCV003450240 RCV003450241 RCV003450242 RCV003450243 RCV003450245 RCV003450246 RCV003450248 RCV003450249 RCV003450251 RCV003450252 RCV003450253 RCV003450254 RCV003450255 RCV003450257 RCV003450258 RCV003450259 RCV003450260 RCV003450261 RCV003450262 RCV003450263 RCV003450264 RCV003450266 RCV003450267 RCV003450268 RCV003450269 RCV003450270 RCV003450271 RCV003450272 RCV003450273 RCV003450274 RCV003450275 RCV003450276 RCV003450277 RCV003450278 RCV003450279 RCV003450281 RCV003450283 RCV003450285 RCV003450286 RCV003450287 RCV003450289 RCV003450290 RCV003450291 RCV003450292 RCV003450293 RCV003450294 RCV003450295 RCV003450296 RCV003450297 RCV003450298 RCV003450299 RCV003450300 RCV003450301 RCV003450302 RCV003450303 RCV003450304 RCV003450305 RCV003450306 RCV003450307 RCV003450308 RCV003450309 RCV003450310 RCV003450311 RCV003450312 RCV003450313 RCV003450315 RCV003450316 RCV003450317 RCV003450318 RCV003450319 RCV003450320 RCV003450321 RCV003450322 RCV003450324 RCV003450325 RCV003450326 RCV003450327 RCV003450328 RCV003450329 RCV003450330 RCV003450332 RCV003450333 RCV003450334 RCV003450335 RCV003450336 RCV003450337 RCV003450338 RCV003450339 RCV003450340 RCV003450341 RCV003450342 RCV003450343 RCV003450344 RCV003450347 RCV003450348 RCV003450349 RCV003450350 RCV003450351 RCV003450352 RCV003450353 RCV003450354 RCV003450355 RCV003450356 RCV003450357 RCV003450358 RCV003450359 RCV003450362 RCV003450363 RCV003450364 RCV003450365 RCV003450366 RCV003450368 RCV003450369 RCV003450370 RCV003450371 RCV003450372 RCV003450373 RCV003450374 RCV003450375 RCV003450376 RCV003450377 RCV003450378 RCV003450379 RCV003450380 RCV003450381 RCV003450382 RCV003450383 RCV003450384 RCV003450385 RCV003450386 RCV003450387 RCV003450388 RCV003450389 RCV003450390 RCV003450391 RCV003450392 RCV003450393 RCV003450394 RCV003450395 RCV003450396 RCV003450397 RCV003450398 RCV003450399 RCV003450400 RCV003450401 RCV003450402 RCV003450403 RCV003450404 RCV003450405 RCV003450406 RCV003450407 RCV003450408 RCV003450409 RCV003450410 RCV003450411 RCV003450412 RCV003450413 RCV003450414 RCV003450415 RCV003450416 RCV003450417 RCV003450418 RCV003450419 RCV003450420 RCV003450421 RCV003450422 RCV003450423 RCV003450424 RCV003450425 RCV003450426 RCV003450427 RCV003450429 RCV003450430 RCV003450431 RCV003450432 RCV003450433 RCV003450434 RCV003450515 RCV003450538 RCV003450595 RCV003450607 RCV003450610 RCV003450611 RCV003452211 RCV003452213 RCV003452214 RCV003452224 RCV004368999 RCV005871200 RCV005602058 RCV004442547 RCV004442567 RCV004442570 RCV004442580 RCV004442590 RCV004442613 RCV004588550 RCV005422481 RCV004593945 RCV004589336 RCV004589338 RCV000411044 RCV000411508 RCV005027471 RCV004022153 RCV003449031 RCV003449054 RCV003449102 RCV004787735 RCV003449147 RCV003449148 RCV003449140 RCV000576398 RCV003449143 RCV003449151 RCV002272245 RCV003449145 RCV003449152 RCV003449146 RCV003449150 RCV003449142 RCV003449149 RCV003449144 RCV003139658 RCV003449141 RCV003449166 RCV003449198 RCV003449185 RCV003449234 RCV004591426 RCV003449175 RCV005429023 RCV003335361 RCV001543126 RCV003449215 RCV003449220 RCV003449197 RCV003449238 RCV003449202 RCV003449239 RCV003449204 RCV003449184 RCV003449211 RCV003449218 RCV003449174 RCV003449221 RCV002466516 RCV003449173 RCV004791493 RCV003449189 RCV003449167 RCV003449193 RCV003449172 RCV003449290 RCV003449303 RCV003449330 RCV003449282 RCV003449308 RCV003449285 RCV003449307 RCV003449292 RCV003449295 RCV001523829 RCV003449321 RCV003449337 RCV003449310 RCV003449336 RCV003449326 RCV003449302 RCV003449317 RCV003449329 RCV003449318 RCV003478063 RCV003449300 RCV003449325 RCV003449315 RCV003449291 RCV002289660 RCV004591437 RCV003449322 RCV004787800 RCV000501287 RCV003449333 RCV003449313 RCV003449296 RCV003449287 RCV003449311 RCV003449297 RCV003447533 RCV003449298 RCV003449324 RCV003449314 RCV002466258 RCV003449299 RCV003449331 RCV003449286 RCV003449328 RCV003449306 RCV003449293 RCV003449332 RCV003449283 RCV003449319 RCV003449294 RCV003449288 RCV003449335 RCV003449312 RCV003449323 RCV003334389 RCV002467449 RCV003449305 RCV003449316 RCV003449327 RCV003449284 RCV003449304 RCV003449320 RCV003449289 RCV003449334 RCV003449301 RCV003449309 RCV003447536 RCV003449409 RCV003449410 RCV003449411 RCV003449412 RCV003449413 RCV003449414 RCV003449415 RCV003449449 RCV003449450 RCV003449451 RCV003449464 RCV003449482 RCV003139748 RCV004592547 RCV003449503 RCV003449504 RCV005620956 RCV003449520 RCV003449511 RCV003449512 RCV003449517 RCV003449519 RCV004023717 RCV003449507 RCV003449510 RCV003449515 RCV003449501 RCV003449502 RCV003449505 RCV003449506 RCV003449508 RCV003449509 RCV003449513 RCV003449518 RCV003449516 RCV000576542 RCV003451287 RCV003451269 RCV005248240 RCV003451255 RCV002483526 RCV003451222 RCV003451270 RCV003451286 RCV002272293 RCV003451219 RCV003451217 RCV003451253 RCV003451223 RCV003451254 RCV003451256 RCV003451221 RCV003451258 RCV003451220 RCV003451257 RCV000576857 RCV000576639 RCV001250433 RCV003451304 RCV003451303 RCV003139883 RCV003451305 RCV003451306 RCV003451319 RCV003451320 RCV003451326 RCV003451327 RCV000590828 RCV003451449 RCV003451452 RCV003316777 RCV003451475 RCV003450661 RCV000410467 RCV003451494 RCV003451486 RCV003451488 RCV003451504 RCV003451507 RCV003451485 RCV003451487 RCV003451501 RCV003451508 RCV003451484 RCV003451505 RCV003451506 RCV003451491 RCV000986728 RCV002466553 RCV003451489 RCV003451591 RCV003451599 RCV003451594 RCV003451603 RCV003451588 RCV003451608 RCV003451598 RCV003451611 RCV000662770 RCV000662769 RCV000662582 RCV000662902 RCV000663304 RCV000662746 RCV003453476 RCV003453492 RCV003485632 RCV003453489 RCV003453405 RCV003453406 RCV003453509 RCV003453502 RCV003883159 RCV003453460 RCV003453457 RCV003453446 RCV003453456 RCV003453428 RCV003453437 RCV003453485 RCV003453468 RCV003453510 RCV003453537 RCV003453549 RCV003453558 RCV003453559 RCV003453560 RCV003453561 RCV003453562 RCV003453597 RCV003453599 RCV003453613 RCV003453665 RCV003453646 RCV004028636 RCV003453721 RCV003453732 RCV003453643 RCV003453678 RCV003453715 RCV003453669 RCV004792496 RCV003453657 RCV003453717 RCV003453682 RCV003453679 RCV004588255 RCV003453727 RCV003453725 RCV003453677 RCV003453698 RCV003453668 RCV003453671 RCV003453644 RCV003453716 RCV003453640 RCV003453684 RCV005409752 RCV003453672 RCV003453666 RCV003453653 RCV003453747 RCV003453748 RCV003453759 RCV000856619 RCV003454994 RCV000986719 RCV000986727 RCV003455041 RCV003455040 RCV003316817 RCV003455136 RCV003455138 RCV003455101 RCV003455096 RCV003455070 RCV003455076 RCV002290530 RCV005601643 RCV003455088 RCV003455092 RCV003455093 RCV003455094 RCV005423785 RCV001262330 RCV003455102 RCV003455105 RCV003455109 RCV003455111 RCV003455112 RCV003455113 RCV003455114 RCV005866735 RCV003455117 RCV003455118 RCV003455119 RCV003455120 RCV003455104 RCV003455116 RCV003455282 RCV003455274 RCV003455252 RCV003455304 RCV003455178 RCV003455163 RCV003455149 RCV003455234 RCV005359795 RCV003455441 RCV003449601 RCV003449584 RCV003449617 RCV003449602 RCV003449622 RCV003449624 RCV003449626 RCV003449625 RCV003449638 RCV003449676 RCV003449686 RCV003449680 RCV003449682 RCV003449660 RCV003449723 RCV003449716 RCV005245797 RCV003450922 RCV000504011 RCV003450923 RCV002265594 RCV003450924 RCV002288560 RCV000576688 RCV001253395 RCV000410127 RCV003334381 RCV003450926 RCV003450927 RCV003450928 RCV000761604 RCV003450929 RCV003450930 RCV003450931 RCV000986718 RCV003450932 RCV003450933 RCV003450934 RCV003450935 RCV003450936 RCV003450937 RCV000576301 RCV003450938 RCV003450939 RCV003450940 RCV003450941 RCV003137606 RCV003450942 RCV000411212 RCV003450943 RCV003450944 RCV002467437 RCV003450945 RCV003450946 RCV000410929 RCV002272050 RCV003450947 RCV003450948 RCV000411710 RCV001262897 RCV003450949 RCV003450950 RCV003450951 RCV003450952 RCV003450953 RCV003450954 RCV003450955 RCV000624966 RCV000202503 RCV000409973 RCV000009489 RCV003450956 RCV002477211 RCV003224862 RCV003450958 RCV003450959 RCV003450960 RCV003450961 RCV000607176 RCV000709742 RCV001824596 RCV000410401 RCV003450962 RCV000009490 RCV003450963 RCV003450964 RCV003450965 RCV003450966 RCV003450967 RCV002483121 RCV000576575 RCV003450969 RCV003450970 RCV003450971 RCV002288563 RCV000409599 RCV003450972 RCV003450974 RCV003450975 RCV002467438 RCV003335091 RCV002243694 RCV003450977 RCV003450978 RCV003450979 RCV003450980 RCV003450981 RCV000603416 RCV000409718 RCV000576567 RCV003450982 RCV003450983 RCV003450984 RCV003450985 RCV000411917 RCV000576365 RCV003450986 RCV000576708 RCV003450987 RCV003450988 RCV000576312 RCV003450989 RCV003450990 RCV003450991 RCV002288564 RCV000984323 RCV002288565 RCV003450992 RCV003450993 RCV003450994 RCV003450995 RCV003450996 RCV003449750 RCV003449790 RCV003449807 RCV001258051 RCV001261439 RCV001262334 RCV001267896 RCV003449829 RCV003453005 RCV001814046
Lynch-like syndrome	Likely pathogenic; Pathogenic	rs587781544, rs1114167765, rs1553333707, rs267608083, rs1558666905, rs587779221, rs1572728112, rs1669365820, rs587779212, rs63749843, rs267608078, rs63749942, rs1669301838, rs1669325562, rs730881797 View all (4 more)	RCV001249966 RCV001249965 RCV001249980 RCV001249958 RCV001249979 RCV001249956 RCV001249987 RCV001249967 RCV001249984 RCV001249973 RCV001249957 RCV001249970 RCV001249986 RCV001249977 RCV001249968 RCV001249981 RCV001249985 RCV001249959 RCV001249971 RCV001249964
Malignant tumor of breast	Pathogenic; Likely pathogenic	rs267608041, rs63750617, rs63751319, rs587779315	RCV001358625 RCV001356266 RCV001356105 RCV001355616
Mismatch repair cancer syndrome 1	Likely pathogenic; Pathogenic	rs2104538773, rs786201042, rs786201050, rs863225412, rs876660943, rs587776706, rs587779217, rs267608058, rs63749843, rs587779274, rs63751058, rs1669331597	RCV001706776 RCV001254934 RCV001535485 RCV005863044 RCV000763498 RCV000009497 RCV000009498 RCV003447486 RCV000763497 RCV004576919 RCV003483461 RCV001293975
Mismatch repair cancer syndrome 3	Pathogenic; Likely pathogenic	rs63749873, rs1114167803, rs587779778, rs63750119, rs587782593, rs587779264, rs587782712, rs1114167744, rs2530714528, rs1669962346, rs786201042, rs786202848, rs786203924, rs786201084, rs1553333738 View all (41 more)	RCV005361590 RCV005361719 RCV005359054 RCV005025206 RCV003313781 RCV005031646 RCV005031647 RCV005397386 RCV005397383 RCV005025796 RCV002478495 RCV005025263 RCV005396498 RCV005394572 RCV005365076 RCV005356121 RCV005370218 RCV005397429 RCV005365135 RCV005361165 RCV006257286 RCV005396727 RCV005396724 RCV002503888 RCV002496313 RCV005399278 RCV005399406 RCV005027471 RCV003483627 RCV005355984 RCV005398771 RCV005862736 RCV002483526 RCV002490471 RCV003883159 RCV005392392 RCV005359761 RCV002489524 RCV002490669 RCV002498357 RCV005031552 RCV005364958 RCV002477210 RCV005364959 RCV000009493 RCV005394302 RCV002477211 RCV005394303 RCV000009499 RCV002504982 RCV005357446 RCV005364961 RCV000009496 RCV002483121 RCV002280099 RCV004796003 RCV002477214 RCV005394307 RCV005357520
MSH6-related disorder	Likely pathogenic; Pathogenic	rs2104340974, rs2104329942, rs267608064, rs587781659, rs587782111, rs730881816, rs730881825, rs730881827, rs786201042, rs786201050, rs864622153, rs876658881, rs63750955, rs2530711864, rs1060502886 View all (18 more)	RCV004728701 RCV004741114 RCV004532548 RCV004528852 RCV004528855 RCV004739507 RCV004528903 RCV004528904 RCV004528905 RCV004535053 RCV004530217 RCV004532785 RCV004739299 RCV004527926 RCV004533196 RCV004535547 RCV004541540 RCV004541030 RCV004527682 RCV004528168 RCV004723203 RCV004726783 RCV004739331 RCV004537273 RCV004724791 RCV005250012 RCV004739332 RCV005229880 RCV004739334 RCV005250013 RCV003315226 RCV004739335 RCV004537279 RCV004739337
Neoplasm	Likely pathogenic; Pathogenic	rs1553332772	RCV004669047
Ovarian carcinoma	Pathogenic	rs587779243	RCV001646995
Ovarian neoplasm	Likely pathogenic; Pathogenic	rs1114167776, rs1558656674, rs1558661873, rs1558664251, rs1558666905	RCV000785437 RCV000785579 RCV000785395 RCV000785563 RCV000785377
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs878853745	RCV005895189
Pancreatic adenocarcinoma	Pathogenic	rs372352774	RCV005927705
Papillary carcinoma of the corpus uteri	Pathogenic	rs2530847916, rs398123231	RCV003985029 RCV003137833
Rhabdomyosarcoma	Pathogenic	rs587781462	RCV001257543
Thyroid cancer, nonmedullary, 1	Pathogenic	rs267608046	RCV005890428
Uterine corpus cancer	Likely pathogenic; Pathogenic	rs267608041, rs1114167794	RCV003128157 RCV003128158

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormality of the ovary	Conflicting classifications of pathogenicity	rs41557217	RCV001564013
Acute myeloid leukemia	Benign; Likely benign	rs142189078, rs755141440, rs41295274	RCV005919782 RCV005900841 RCV005890436
Adrenal cortex carcinoma	-	rs2104526529	RCV004813269
B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1	Uncertain significance	rs876658238	RCV000761188
bilateral breast cancer	Conflicting classifications of pathogenicity	rs147453999	RCV001005027
Cervical cancer	Conflicting classifications of pathogenicity; Likely benign; Benign	rs730881819, rs755141440, rs2020908	RCV005888577 RCV005900842 RCV005888782
Clear cell carcinoma of kidney	Benign	rs3136351	RCV005888974
Colorectal / endometrial cancer	Benign; Likely benign	rs2020912, rs63750664	RCV000148644 RCV000148647
Colorectal cancer, early onset	Conflicting classifications of pathogenicity	rs41295278	RCV000148646
Colorectal cancer, non-polyposis	Benign; Likely benign	rs3211299, rs41295268	RCV000148642 RCV000148649
Germ cell tumor of testis	Benign	rs3136282	RCV005890438
Hepatoblastoma	Conflicting classifications of pathogenicity	rs864622397	RCV001843493
Hepatocellular carcinoma	Likely benign	rs63750252	RCV005890430
Hereditary cancer	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs147852216, rs863224627, rs864622397, rs763841886, rs769610487, rs751867550, rs1428717797, rs149945495, rs926031657, rs1558661621, rs950036621, rs34938432, rs191109849, rs41557217, rs267608051	RCV005229905 RCV004701257 RCV003491957 RCV004698831 RCV003491994 RCV004701307 RCV004701604 RCV003492327 RCV004702367 RCV003492166 RCV005601652 RCV005234963 RCV005234964 RCV003492405 RCV004700373
Inherited ovarian cancer (without breast cancer)	Conflicting classifications of pathogenicity; Uncertain significance	rs147453999, rs587782706, rs1558662672, rs587779229	RCV004584193 RCV004782308 RCV005240554 RCV004577321
Lung cancer	Benign; Likely benign	rs189672273, rs2020908	RCV005886660 RCV005888784
Lung sarcomatoid carcinoma	Likely benign	rs760299985	RCV003322608
Lymphoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs59056100, rs373129248	RCV005868182 RCV005890499
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs59056100, rs142189078, rs63750252, rs3136282	RCV005868181 RCV005919783 RCV005890432 RCV005890437
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	rs536884553, rs3136351, rs63750252	RCV005898029 RCV005888973 RCV005890431
Malignant tumor of urinary bladder	Uncertain significance	rs749800983	RCV005899489
Melanoma	Benign	rs2020908	RCV005888783
Ovarian cancer	Conflicting classifications of pathogenicity; Benign	rs544222338, rs61756469, rs186240214, rs377216828, rs876661067, rs759359754, rs1558666061, rs745442468, rs759642651, rs540890590, rs373418713, rs1434578765, rs63750998, rs63750370	RCV003153368 RCV003153411 RCV003153418 RCV003153428 RCV003153515 RCV003154660 RCV003154673 RCV003153676 RCV003153677 RCV003153811 RCV003153848 RCV003153936 RCV003153343 RCV000148653 RCV003153344
Prostate cancer	Uncertain significance	rs1553412902	RCV003229837
Sarcoma	Likely benign; Conflicting classifications of pathogenicity	rs755141440, rs749922503	RCV005900843 RCV005899491
See cases	Conflicting classifications of pathogenicity	rs545466048	RCV002287361
Thymoma	Likely benign	rs755141440	RCV005912913
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs182871847, rs189672273	RCV005887903 RCV005886661

Show/Hide Text Mining Associations (151)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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 View all (3 more)
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 View all (101 more)
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	10521294, 11709755, 12547705, 14970868, 15118395, 15354210, 15731775, 15872200, 16237223, 17003396, 17531815, 18556776, 19117025, 19389263, 19504173 View all (143 more)
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 View all (31 more)
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 View all (14 more)
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 View all (114 more)
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 View all (1 more)
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 View all (23 more)
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

MSH6 (mutS homolog 6)