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

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

Show/Hide Causal Diseases (40)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Breast and/or ovarian cancer	Likely pathogenic; Pathogenic	rs587782277, rs2104526796, rs786201042, rs864622153, rs1553333584, rs267608094, rs63750617, rs267608078, rs267608098	RCV001270948 RCV003150490 RCV001798562 RCV001270947 RCV003150246 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast carcinoma	Likely pathogenic; Pathogenic	rs1553333072, rs1114167702, rs63751017, rs63750617	RCV001554267 RCV001580145 RCV001554337 RCV001564011	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast-ovarian cancer, familial, susceptibility to, 1	Pathogenic	rs63750563	RCV005861041	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (47 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebellar medulloblastoma	Pathogenic	rs886056144	RCV000845243	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Pathogenic	rs1553413200	RCV000677890	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Likely pathogenic; Pathogenic	rs2104430094, rs267608083	RCV002290230 RCV001293834	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Pathogenic	rs267608078	RCV006253776	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (253 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs1553332772, rs2530593620, rs878853711, rs1669483230	RCV005361889 RCV005370204 RCV005361379 RCV005359897	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial prostate cancer	Likely pathogenic; Pathogenic	rs63751327	RCV002509413	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (24 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gaucher disease type I	Pathogenic	rs1553333346	RCV000515465	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1	Pathogenic	rs63749999	RCV005890429	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary breast ovarian cancer syndrome	Pathogenic	rs63750909	RCV004794357	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (1237 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (116 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary nonpolyposis colorectal carcinoma	Likely pathogenic; Pathogenic	rs886044911, rs1064793185	RCV000351125 RCV000490670	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (945 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited polyposis and early onset colorectal cancer - germline testing	Likely pathogenic; Pathogenic	rs1114167729, rs267608078	RCV006438098 RCV006277698	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited prostate cancer	Likely pathogenic; Pathogenic	rs863225406, rs63750617	RCV006272135 RCV004584185	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (308 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (34 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch syndrome 4	Likely pathogenic	rs587779264	RCV004555853	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (1032 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (15 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of breast	Pathogenic; Likely pathogenic	rs267608041, rs63750617, rs63751319, rs587779315	RCV001358625 RCV001356266 RCV001356105 RCV001355616	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (54 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (29 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs1553332772	RCV004669047	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian carcinoma	Pathogenic	rs587779243	RCV001646995	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian neoplasm	Likely pathogenic; Pathogenic	rs1114167776, rs1558656674, rs1558661873, rs1558664251, rs1558666905	RCV000785437 RCV000785579 RCV000785395 RCV000785563 RCV000785377	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs878853745	RCV005895189	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancreatic adenocarcinoma	Pathogenic	rs372352774	RCV005927705	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary carcinoma of the corpus uteri	Pathogenic	rs2530847916, rs398123231	RCV003985029 RCV003137833	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyosarcoma	Pathogenic	rs587781462	RCV001257543	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs267608046	RCV005890428	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus cancer	Likely pathogenic; Pathogenic	rs267608041, rs1114167794	RCV003128157 RCV003128158	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (49)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormality of the ovary	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenal cortex carcinoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
bilateral breast cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal / endometrial cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer, early onset	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer, non-polyposis	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GAUCHER DISEASE, TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY BREAST CARCINOMA	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOARDING DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited ovarian cancer (without breast cancer)	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACRANIAL HEMORRHAGE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung sarcomatoid carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT PANCREATIC NEOPLASM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUIR-TORRE SYNDROME	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity; Benign	ClinVar GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (362)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10500837, 29449434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	26689913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11306499, 20846793, 27258561, 28555354, 29976631, 30381262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	11474654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	18987546, 20015892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	20632815, 26097592, 27459116, 31851094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	21327329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	28555354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	15547740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	16771955, 17039270, 19324997, 23955641, 27990589, 30063919, 31470178, 31649038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	16890597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	15264268, 16890597, 17039270, 18176851, 29146522, 30324682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	14520694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	34941572	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	17440981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	25078279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	15682421, 9739019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agnosia	Agnosia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	17440981, 25078279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	15919721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	33746161	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	15354210	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	37200008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	24073290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	24073290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	35236796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	29972732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign neoplasm of central nervous system	Benign Neoplasm Of Nervous System	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	36243179	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	17676485, 20591884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	28466842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	15340263, 16000562, 21674763, 25648859, 30478893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	33501557, 39910726	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	CLINGEN_DG	11861375, 15805151, 26976419, 29345684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	19924528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11136970, 12964942, 15169882, 15805151, 15917309, 16283884, 18701435, 18827493, 19095746, 19418218, 19781088, 19924528, 21059860, 21710692, 22035181 View all (6 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Carcinoma	Breast Carcinoma	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast Neoplasms	Breast neoplasm	Pubtator	15805151, 19781088, 21700777, 22765268, 23164213, 24884479, 26976419, 28514183, 29345684, 31811167, 32868316, 33560870, 33826040, 34196900, 34667028, 34866136, 34941572, 35451682 View all (3 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	22765268	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	28465297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10934138, 21437237, 28701629, 34104084, 34941572, 36068491, 39766782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11196187, 11306449, 11979414, 12741892, 18469706, 19252434, 22918162, 22992699, 26558945, 28669579, 9401011, 9808525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	23648460	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	30089731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	32060377	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15918183, 30981109, 32746792, 36634747	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of endometrium	Endometrial carcinoma	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	34895278	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17676485, 20591884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	10408416, 24728189	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	26226846, 26483394, 36582237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29509313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	11333868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	19898223, 24844595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12376742, 16361634, 18469706, 19635727, 24728189, 28176205, 29889250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	21572397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiac diverticulum	Cardiac Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	37076313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	18768390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	17440981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	25078279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	28146430, 33200197	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choroid Plexus Carcinoma	Choroid Plexus Carcinoma	BEFREE	28460341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	10521294	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clear Cell Sarcoma of Soft Tissue	Sarcoma	BEFREE	16619000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10190549, 11245474, 11971198, 12036916, 12231545, 14767555, 18523027, 18851982, 19582761, 21193451, 21288634, 21422863, 22949387, 23358792, 23385444 View all (8 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	11470537, 12547705, 9331106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	14767555, 16106253, 17920897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	18987546	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	21288634, 23729658, 23958088, 24518125, 28819720, 29672549, 30387329, 32611331, 36180906, 37314143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	24484585	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	CLINVAR_DG	10348829, 10508506, 14974087, 1548301, 15483016, 18301448, 20028993, 20487569, 24362816		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer, hereditary nonpolyposis, type 1	Colorectal Cancer	BEFREE	3366037		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5	Colorectal Cancer	UNIPROT_DG	10480359, 10521294, 11586295, 12658575, 14974087, 15365995, 21120944, 22102614, 9354786		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5	Colorectal Cancer	CLINVAR_DG	10508506, 10537275, 12732731, 14520694, 14961575, 15236168, 16283884, 16418736, 16807412, 17453009, 18269114, 18301448, 18389388, 18566915, 18625694 View all (33 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5	Colorectal Cancer	GENOMICS_ENGLAND_DG	24362816		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5	Colorectal Cancer	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG	10413423, 10537275, 10699937, 11153917, 11470537, 11709755, 11807791, 12522549, 14520694, 14961575, 15483016, 22102614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10480359, 10507723, 10537275, 10630171, 10674020, 10699937, 10786688, 11048711, 11306449, 11333868, 11336166, 11807791, 11900875, 12469183, 12537658 View all (92 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	10480359, 24100870, 25432668, 9307272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10507723, 10544224, 11333868, 11709755, 12373605, 15118395, 15217520, 15713769, 16106253, 16270383, 16636019, 16807412, 16940983, 17117178, 17348456 View all (101 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	11807791, 12019211, 12920072, 14974087, 16106253, 16902769, 17854147, 18269114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	10521294, 11709755, 12547705, 14970868, 15118395, 15354210, 15731775, 15872200, 16237223, 17003396, 17531815, 18556776, 19117025, 19389263, 19504173 View all (143 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	21911971, 23354017, 27144940, 32102509	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	29587389	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	8855810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Constitutional Mismatch Repair Deficiency Syndrome	Constitutional Mismatch Repair Deficiency Syndrome	CLINGEN_DG	10763829, 11809679, 15340263, 16000562, 16283678, 17259933, 17557300, 18030674, 18409202, 18593904, 9390556, 9927034		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Constitutional mismatch repair deficiency syndrome	Constitutional Mismatch Repair Deficiency Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Constitutional Mismatch Repair Deficiency Syndrome	Constitutional Mismatch Repair Deficiency Syndrome	BEFREE	21039432, 21674763, 22493294, 31815888		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12496483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	15547100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	BEFREE	29302048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33811277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	12808058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	28819700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG	10508506		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	10550333, 10717241, 10753784, 11054716, 11153917, 11306449, 11333868, 11709755, 11753956, 11801550, 12537658, 12732731, 14760069, 14961575, 15098177 View all (46 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	UNIPROT_DG	11153917, 14961575		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	GENOMICS_ENGLAND_DG	24362816		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Carcinoma	Endometrial carcinoma	CGI_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	11709755, 34499134, 36628559, 37940339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG	10508506		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	11333868, 11709755, 12732731, 15118395, 15354210, 17003396, 18269114, 20028993, 20153885, 20727894, 20937110, 21155762, 22331944, 23164213, 23385444 View all (31 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	12732731, 18269114		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	27144940, 36765365	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrioid carcinoma ovary	Ovarian endometrioid carcinoma	BEFREE	15547740, 24018808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	24018808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	24728189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29866946, 37009661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	17530287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Colorectal Cancer Type X	Colorectal Cancer	BEFREE	28944238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Thyroid cancer	Pubtator	26530882	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
familial non-medullary thyroid cancer	Thyroid cancer	GENOMICS_ENGLAND_DG	26530882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	22811390, 23779253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	34404366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	22811390, 23779253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrous skin tumor of tuberous sclerosis	Adenoma sebaceum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	31068195, 33328484	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric lymphoma	Gastric lymphoma	BEFREE	22916837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	39910726	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	9808525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease, Type 1	Gaucher Disease	CLINVAR_DG	22493294		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor	Tumor	BEFREE	22147429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	22876139	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17404084, 19584161, 20223108, 21425258, 21674763, 23057844, 24995467, 25078279, 28371827, 28922847, 29366782, 30867843, 31480372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	17404084, 19584161, 21288634, 30104292, 30861589, 31604779, 34848827	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15481721, 17404084, 19584161, 20223108, 21288634, 21425258, 21674763, 23057844, 24995467, 25078279, 28371827, 28922847, 29366782, 30867843		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	16618716, 17388945, 40302099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19584161, 28831025, 30153289, 30478893, 9135006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	24483153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	9568786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	9510473		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	10954253, 17935271, 23666231, 27016223, 28514183, 30498870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	23164213, 26976419, 28514183, 29988077, 30128536, 32039725, 35451682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Malignant Neoplasm	Hereditary cancer	BEFREE	18790734, 29107668		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	CLINGEN_DG	10521294, 10545954, 11245474, 11709755, 18790734, 7604264, 7604265, 9354786, 9390556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	BEFREE	12019211, 12920072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary non-polyposis colorectal cancer syndrome	Hereditary nonpolyposis colorectal cancer	ORPHANET_DG	25318681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	10211513, 10404064, 10448273, 10480359, 10495924, 10521294, 10537275, 10630180, 10753784, 10911905, 11153917, 11306449, 11317354, 11561760, 11691795 View all (172 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINVAR_DG	10508506, 10537275, 10699937, 10938287, 11470537, 11479205, 11641390, 11807791, 11900875, 12732731, 14520694, 14961575, 14974087, 15098177, 15236168 View all (125 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CLINGEN_DG	10521294, 10545954, 11245474, 11709755, 18790734, 7604264, 7604265, 9354786, 9390556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	CTD_human_DG	11586295, 18417481, 22102614, 25701956, 9354786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	ORPHANET_DG	25318681		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINVAR_DG	10508506, 10521294, 10537275, 10612827, 11807791, 12019211, 12376742, 12658575, 12732731, 14520694, 14961575, 14974087, 15098177, 15236168, 15483016 View all (112 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CLINGEN_DG	10521294, 10545954, 11245474, 11709755, 18790734, 7604264, 7604265, 9354786, 9390556		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	11586295, 18417481, 22102614, 25701956, 9354786		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15571801, 17498565, 17653898, 18625694		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary pancreatitis	Pancreatitis	Pubtator	28687971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES	Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	28555354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	39320958	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	25204323, 27430658	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal Polyposis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	22331944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	26099011		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23349304	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26689913	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26689913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	15682421, 31815888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	22868256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	31502267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	31702654	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15918183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	19398597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	40340154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18409202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31786870, 36482191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33501557	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	29449434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	20015892, 20934970, 22916837, 26558945		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	17440981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	17440981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	CLINGEN_DG	10521294, 10545954, 11245474, 11709755, 18790734, 7604264, 7604265, 9354786, 9390556		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch Syndrome	Lynch Syndrome	CTD_human_DG	11586295, 18417481, 22102614, 25701956, 9354786		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch Syndrome	Lynch Syndrome	BEFREE	15872200, 16283884, 17453009, 17851451, 17920897, 17942460, 18176851, 18270343, 18566915, 18625694, 19132747, 19459153, 19466295, 19642020, 19685281 View all (100 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch Syndrome	Lynch Syndrome	GENOMICS_ENGLAND_DG	23788249		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lynch syndrome	Lynch Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	15340263, 18481196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant genitourinary tract tumor	Genitourinanry Tract Tumors	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	16618716, 23057844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	9568786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11136970, 12964942, 15169882, 15805151, 15917309, 16283884, 18701435, 18827493, 19095746, 19418218, 19781088, 19924528, 21059860, 21710692, 22035181 View all (7 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	10717241, 11153917, 11306449, 11709755, 12537658, 12732731, 14961575, 15098177, 15118395, 15236168, 15805151, 16418736, 17003396, 17925543, 17973265 View all (24 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	11470537, 22883484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	10190568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	31445773, 31502267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12376742, 16361634, 18469706, 19635727, 25695547, 28176205, 30734108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15264268, 22219001, 24622885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pharynx	Malignant Pharyngeal Neoplasm	BEFREE	31445773		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11444857, 15919721, 18355840, 23559371, 25117503, 25255306, 27486019, 27803051, 30681994, 30730411, 31209634, 31811435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19900449, 21136174, 21687951, 22219001, 31372044, 9808525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ureter	Malignant Neoplasm Of Ureter	BEFREE	30882153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	17676485, 20591884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10471527, 10717241, 10954253, 11048711, 12177776, 15098177, 15236168, 15324697, 15354210, 15872200, 16106253, 16408224, 16418736, 16525781, 16721747 View all (48 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10190549, 11245474, 11971198, 12036916, 12231545, 14767555, 18523027, 18851982, 19582761, 21193451, 21422863, 22331944, 22949387, 23358792, 23385444 View all (11 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CLINVAR_DG	22949379, 23047549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of small intestine	Small intestine cancer	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21059860, 29785566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	15118395, 21081928, 28675510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	17440981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	19179424	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16619000		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	24926095	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	Pubtator	36975468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	37556141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	30681994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	17323113, 18236172, 22814321, 28165350, 28323777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	23648460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muir-Torre syndrome	Muir-Torre Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUTYH-Associate Polyposis	Polyposis	BEFREE	17081686, 17920897, 24518836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm of skeletal system	Neoplasm of skeletal system	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10413423, 10448273, 10469448, 10498885, 10521294, 10665647, 10706084, 10719374, 10786688, 10820351, 10918391, 10934138, 11245474, 11306449, 11801550 View all (118 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	CLINVAR_DG	10471527, 10508506, 10521294, 10537275, 10938287, 11479205, 11709755, 11807791, 12373605, 12376742, 12547705, 12732731, 14520694, 14961575, 14974087 View all (175 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	BEFREE	21769135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	23570624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neu-Laxova syndrome	Neu-Laxova Syndrome	BEFREE	21437237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10037468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	10037468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21821902	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	16283678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	15340263, 16000562, 16283678, 25329635, 29785566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	32773772, 33568103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	22868256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	22868256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	21710692, 30921768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29876008		★★★★★ ★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	25078279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28387323, 30456894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28387323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	CGI_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian Cysts	Ovarian cysts	Pubtator	37188452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	12376742, 16361634, 18469706, 19635727, 28176205		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ovarian neoplasm	Ovarian neoplasm	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ovarian neoplasm	Ovarian neoplasm	CGI_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22331944, 23047549, 25622547, 26718727, 28888541, 29063235, 29889250, 32019284, 33541386, 33560870, 36411032, 36581850, 37013556, 37940339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15264268, 22219001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Carcinoma	Pancreatic cancer	Pubtator	34895278	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma, familial	Pancreatic carcinoma	BEFREE	28687971, 31851094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21212431, 21681824, 22331944, 25479140, 26483394, 27449771, 32108923, 32354656, 34941572, 36582237, 36896836	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	31491579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	40235160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	23677888		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	29342268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	BEFREE	23955641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	28701629	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	32606442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	16771955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	CLINVAR_DG	22949379, 23047549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	29449434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	21389894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11444857, 15919721, 18355840, 21348638, 23559371, 25255306, 27486019, 27803051, 30681994, 30730411, 31209634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19723918, 25255306, 25938433, 27013479, 27486019, 28206966, 28403887, 31629422, 32315455, 33287897, 34678156, 35487690, 35666082, 36623239, 37207301, 37283096 View all (1 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27456091, 32384491	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	10471527, 15340263, 21836479, 23358792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	BEFREE	24484585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent Brain Neoplasm	Brain Neoplasms	BEFREE	26778701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	14535629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12496483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	27713421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	22278416	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12574395, 14535629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12574395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	22782591		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	28878254	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Ewing	Sarcoma	Pubtator	31702654	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schwannomatosis	Schwannomatosis	Pubtator	32281771	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	BEFREE	24518836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	24518836, 25924010, 29718441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous Gland Neoplasms	BEFREE	26099011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	15662714, 26312706	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	15662714, 26312706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	16826164		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	21499234	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small intestine carcinoma	Small Intestinal Carcinoma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sporadic Breast Carcinoma	Breast Carcinoma	BEFREE	10098729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	25674277, 31502267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29873509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31981740, 33501557, 35789992	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19900449, 21136174, 22219001, 31372044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	30387329	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19181186, 26685087, 26689913, 27527654, 30387329, 31308508, 36792128	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	20015892		★★★★★ ★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	10675480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	34941572	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	32242507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	33574476, 34104084	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CTD_human_DG	29616133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	25576899	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	CTD_human_DG	29616133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CTD_human_DG	29616133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Torre-Muir syndrome	Torre-Muir Syndrome	BEFREE	17323113, 18065960, 18236172, 22814321, 24321472, 28323777, 31557488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Torre-Muir syndrome	Torre-Muir Syndrome	ORPHANET_DG	22734033, 25006859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Torre-Muir syndrome	Torre-Muir Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	17676485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	12019211, 15340263, 27990589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25023197, 30136158, 30630526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30630526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	15354210, 21242281, 22493294, 22581703, 22692065, 25938433, 26116798, 26619103, 27327152, 27432916, 28381238, 29302048, 29329588, 30723092, 30926882 View all (23 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	20924129, 32108923, 32197529, 32664968, 33369189, 35946190, 36482191, 37699372, 38378964	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	CLINGEN_DG	10763829, 11809679, 15340263, 16000562, 16283678, 17259933, 17557300, 18030674, 18409202, 18593904, 9390556, 9927034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	10861262, 15289847, 16000562, 20015892, 20632815, 20924129, 21637783, 22493294, 23677888, 24040339, 25117503, 27327152, 27432916, 31204389, 31335355, 31815888 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	GENOMICS_ENGLAND_DG	16000562, 16283678, 23788249, 24362816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	ORPHANET_DG	20442441, 23483711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	11893037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	31491579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	11506498, 36818940, 40640365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	37798659	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	34404366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34404366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	28752845	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	30107825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	25078279		★★★★★ ★☆☆☆☆ Found in Text Mining only

MSH6 (mutS homolog 6)