PMS2 (PMS1 homolog 2, mismatch repair system component)

Gene

• Entrez ID: 5395
• Gene name: PMS1 homolog 2, mismatch repair system component
• Gene symbol: PMS2
• Synonyms (NCBI Gene): HNPCC4, LYNCH4, MLH4, MMRCS4, PMS-2, PMS2CL, PMSL2
• Chromosome: 7
• Chromosome location: 7p22.1
• Summary: The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodime

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1805322	G>A,T	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Upstream transcript variant, intron variant, 5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs2345056	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, intron variant
rs3209663	C>A,T	Pathogenic	Intron variant, stop gained, 5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs36038802	G>A,T	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs56203955	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs60794673	AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAA	Conflicting-interpretations-of-pathogenicity, benign, likely-benign, benign-likely-benign	Genic upstream transcript variant, intron variant
rs63750049	T>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs63750106	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs63750123	T>C	Likely-benign, benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, 5 prime UTR variant, non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs63750246	GT>-	Pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs63750250	->T	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs63750261	G>A	Pathogenic	Intron variant, 5 prime UTR variant, non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs63750451	G>A,C	Uncertain-significance, pathogenic	Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs63750477	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs63750490	T>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs63750649	T>C	Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs63750668	C>A,G,T	Benign, uncertain-significance, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs63750685	G>A,C	Likely-benign, benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs63750695	AAGTT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs63750793	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs63750871	G>A	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs63751023	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs63751029	A>-	Pathogenic	Intron variant, non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs63751132	A>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs63751211	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs63751228	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs63751422	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs63751466	G>A,T	Likely-benign, uncertain-significance, pathogenic	Synonymous variant, stop gained, non coding transcript variant, coding sequence variant
rs111466480	A>C,G	Likely-pathogenic	Intron variant, splice donor variant, genic upstream transcript variant
rs113517055	C>A,T	Likely-pathogenic	Intron variant, splice donor variant, genic upstream transcript variant
rs116349687	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs116373169	G>A,T	Benign-likely-benign, pathogenic, uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs121434629	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, intron variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs121434630	A>T	Pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs139194813	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, initiator codon variant, missense variant, coding sequence variant
rs139438201	T>C	Likely-benign, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs141084758	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs141577476	G>A,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs141769057	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs142506484	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs143235330	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs143277125	G>A,T	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs144389038	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs146176004	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant
rs146848345	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs148069478	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs150201462	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs188006077	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs199700509	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs199739859	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs199943748	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, missense variant, coding sequence variant, non coding transcript variant
rs200513014	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs200591010	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, genic upstream transcript variant, intron variant
rs200640585	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs201343342	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs201395630	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs201451115	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs201671325	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs267608147	C>A,G,T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant, intron variant
rs267608148	->A	Pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs267608149	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs267608150	AGGGGG>CTTCACAAC,CTTCACACACA,NNNNNNNNNNN	Pathogenic, uncertain-significance	Frameshift variant, 5 prime UTR variant, coding sequence variant, inframe indel, genic upstream transcript variant, non coding transcript variant, stop gained
rs267608153	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, intron variant, 5 prime UTR variant, coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant
rs267608154	CTGTCTGT>-,CTGT	Pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant
rs267608156	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, intron variant
rs267608158	A>T	Likely-pathogenic, pathogenic	Splice donor variant, intron variant
rs267608159	TTT>-,TTTT,TTTTTT	Pathogenic	Frameshift variant, coding sequence variant, inframe deletion, non coding transcript variant, inframe insertion
rs267608160	GAAG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs267608161	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs267608167	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs267608169	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs267608170	C>T	Likely-pathogenic	Splice acceptor variant
rs267608172	C>A,G,T	Pathogenic	Splice donor variant
rs267608173	TTCT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs368516768	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs370236216	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs370853512	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs371011390	G>A,C	Conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, 5 prime UTR variant, coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs373114291	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs373611083	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs373885654	C>G,T	Likely-pathogenic, pathogenic	Splice donor variant, intron variant
rs374704824	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Missense variant, intron variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs375289386	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs376142390	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs376258383	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs376449640	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Genic upstream transcript variant, intron variant
rs377043696	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs528499793	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, synonymous variant, coding sequence variant, intron variant
rs530021751	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, initiator codon variant, missense variant, coding sequence variant
rs533551639	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs540287433	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs567102013	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs573125799	G>A,T	Benign, likely-benign, pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, synonymous variant, stop gained
rs576055272	G>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs587776715	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587778617	G>A	Not-provided, pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587778618	G>A,T	Not-provided, likely-benign, pathogenic, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant, synonymous variant
rs587779324	T>C	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs587779326	AT>TAAA	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs587779328	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs587779329	A>G	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice donor variant
rs587779330	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587779335	AG>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587779336	->CA	Pathogenic	Genic upstream transcript variant, coding sequence variant, initiator codon variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs587779337	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs587779338	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587779340	T>A,C,G	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Genic upstream transcript variant, intron variant, splice acceptor variant
rs587779342	T>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs587779343	G>A,C	Pathogenic, uncertain-significance	Genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, stop gained, missense variant
rs587779344	GG>C,G	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs587779347	T>C	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs587780039	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs587780044	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs587780046	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs587780062	G>A,C	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, stop gained, missense variant
rs587780064	C>A	Pathogenic	Intron variant, splice acceptor variant
rs587780722	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs587780724	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587780725	TC>CT	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs587781317	C>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587781339	T>C,G	Likely-pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant
rs587781395	T>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs587781626	AT>C	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587781716	C>-,CC	Pathogenic	Genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs587782175	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs587782336	T>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs587782602	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs587782632	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, genic upstream transcript variant, synonymous variant
rs587782704	T>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587782710	GGAGTCAC>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs587782898	G>A,C	Pathogenic, uncertain-significance	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, 5 prime UTR variant, stop gained, missense variant
rs730881914	G>A,T	Pathogenic, uncertain-significance	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained, missense variant
rs730881919	C>A,G,T	Uncertain-significance, pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained, missense variant
rs730881920	GG>CA,CC,CT	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained, missense variant
rs745487791	T>A,C,G	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs745763201	C>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs746766787	AG>-	Pathogenic	5 prime UTR variant, non coding transcript variant, frameshift variant, intron variant, coding sequence variant, genic upstream transcript variant
rs746889239	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs748518694	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, synonymous variant, non coding transcript variant, intron variant, coding sequence variant, genic upstream transcript variant
rs749485884	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant, genic upstream transcript variant
rs749727182	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs752950007	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, non coding transcript variant, missense variant, synonymous variant
rs753199796	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, synonymous variant
rs753256070	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs756420858	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, synonymous variant, non coding transcript variant, intron variant, coding sequence variant, genic upstream transcript variant
rs756653193	->CTTCA,CTTCACACAC	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained, 5 prime UTR variant, frameshift variant
rs757324104	G>A,T	Likely-benign, pathogenic	Upstream transcript variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, intron variant, coding sequence variant, stop gained, 5 prime UTR variant
rs757679199	TGAC>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, non coding transcript variant
rs757989905	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs758018736	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs758304323	T>C	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Intron variant, genic upstream transcript variant, splice acceptor variant
rs758561884	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs759151952	G>-,GG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs760228510	G>A,C	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant, stop gained, 5 prime UTR variant
rs760629688	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs762387250	G>A,C,T	Likely-benign, uncertain-significance, pathogenic	Missense variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, intron variant, coding sequence variant, stop gained, 5 prime UTR variant
rs763308607	C>G,T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs763959308	T>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs764171734	C>A,G	Likely-pathogenic	Intron variant, genic upstream transcript variant, splice acceptor variant
rs764342199	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs766373982	C>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs766389591	T>-	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs766667186	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs767028531	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, 5 prime UTR variant, non coding transcript variant, stop gained
rs769742496	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs773174603	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs774583397	C>A,G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs778531080	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs781078805	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs786201039	C>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs786201047	G>C	Pathogenic	Intron variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs786201062	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs786201508	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, 5 prime UTR variant
rs786201878	A>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs786202098	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, splice acceptor variant
rs786203073	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs786203954	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, splice acceptor variant
rs786204104	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs863224450	C>G,T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs863224496	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs863224497	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs863224498	AA>-,AAA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs863224676	TACTAACTC>-	Uncertain-significance, likely-pathogenic	Intron variant, inframe deletion, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs864622600	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs869320619	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs876658862	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs876658863	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs876658964	G>-	Pathogenic, likely-pathogenic	Intron variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs876659162	G>A,C,T	Uncertain-significance, pathogenic, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained, missense variant
rs876659480	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs876659736	T>A,C	Uncertain-significance, likely-pathogenic	Intron variant, upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs876659900	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs876660075	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs876660459	ACGGAAGTGCT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs876661042	AT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs876661113	C>A,G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs876661203	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs876661256	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs878854037	C>A,G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs878854059	A>G	Likely-pathogenic	Intron variant, genic upstream transcript variant, splice donor variant, upstream transcript variant
rs878854060	GT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886039615	GCATCCAG>-	Likely-pathogenic, pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs886039646	A>-	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886039709	T>C	Likely-pathogenic	Splice acceptor variant
rs939641251	C>T	Uncertain-significance, likely-pathogenic	Intron variant, genic upstream transcript variant
rs988423880	C>G	Likely-pathogenic, pathogenic	Genic upstream transcript variant, splice acceptor variant, intron variant
rs1057515571	C>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1057515572	GC>ACT	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057517801	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057524433	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1060503110	A>C,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1060503137	TA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1060503138	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1060503142	T>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1060503148	T>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1064793234	CT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1064793365	A>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1064793868	C>-	Pathogenic	Splice donor variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1064794083	A>C	Pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, synonymous variant
rs1064794152	A>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1064794173	C>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1064794566	T>-,TT	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1064794577	C>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, missense variant
rs1064794905	AC>-	Pathogenic-likely-pathogenic, pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, inframe indel, non coding transcript variant
rs1064795345	CTCGAAA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1064795447	CA>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1064795705	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant, intron variant
rs1064796190	C>A	Pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant, intron variant
rs1064796500	G>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1224505288	G>A,T	Pathogenic	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs1229860023	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs1231406078	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1243063129	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs1261282733	A>-	Likely-pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, frameshift variant, non coding transcript variant, upstream transcript variant
rs1304634005	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs1325835006	T>C	Likely-pathogenic	Splice acceptor variant
rs1437858319	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained, non coding transcript variant
rs1458321358	G>A	Likely-pathogenic, pathogenic	Genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1461669945	G>A,C	Pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs1554292684	TCAGTTCTGAGAAATGACACCCAGGTTGGCGATGTGTCTCATGGTTGGCCTTCCATGGGGACAGTTCCAGGGGTGGTCCATCTCCCCCATGTGGGTGATCAGTTTCTTCATCTCGCTTGTGTTAAGAGCAGTCCCAATCATCAC>-	Pathogenic	Inframe deletion, stop lost, non coding transcript variant, terminator codon variant
rs1554292741	T>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs1554292880	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554293810	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554293920	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554293959	CCAGT>TCAGC	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554293975	->A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554293991	T>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554294019	T>G	Likely-pathogenic	Missense variant, splice acceptor variant, coding sequence variant, intron variant
rs1554294393	C>A,G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs1554294448	T>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554294505	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554294508	AGT>C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554295967	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297040	C>G,T	Likely-pathogenic	Splice donor variant
rs1554297058	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297061	C>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554297082	A>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554297125	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554297153	GCTA>CCT	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, inframe indel
rs1554297164	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297285	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297342	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554297488	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554297523	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297534	->G	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297564	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297636	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297764	CACT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297781	G>ATCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGAC	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, inframe indel
rs1554297877	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554297962	GAGAA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554298056	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554298067	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554298082	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554298087	A>C	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554298741	C>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1554298756	C>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1554298786	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs1554299430	GTGGTAGACCTC>T	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1554300689	C>A,G	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, intron variant, splice donor variant
rs1554300763	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, upstream transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1554301486	AG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1554301495	AGGGGGCAG>CTTCACAACACAGC,CTTCACAGCACAGC	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe indel, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1554301561	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1554303861	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1554304745	->GA	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1554304940	->TTAA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, inframe insertion, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1554304957	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1554304974	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1554304979	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1554306288	->TAAT	Pathogenic	Coding sequence variant, non coding transcript variant, inframe indel, 5 prime UTR variant, intron variant, genic upstream transcript variant, stop gained
rs1554306353	T>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1554306391	->CCTT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1554306445	CTTAGACTCAGTACCACCTGCCCAGAGCAAATCTGATGGACTGACTTCCGATCAATAGGTTTGATGGCCTTAGCAGGTTCTGTACTAGAGAAATCA>ATTT	Pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1554306528	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant, stop gained
rs1554306605	A>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1562598658	GAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGTATGAACTTGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGACACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAACTCGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTAGAGG	Pathogenic	Coding sequence variant, splice donor variant, intron variant, non coding transcript variant
rs1562604682	A>G	Likely-pathogenic	Splice donor variant
rs1562605623	C>G	Likely-pathogenic	Splice acceptor variant
rs1562614946	CTGCTGCAGCATCTC>TATACGA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562616355	CTGC>GTGT	Likely-pathogenic	Splice acceptor variant, intron variant
rs1562626011	GTGCT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562626070	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562626121	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562626204	ATGATGTAACT>TTTA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562629003	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562632035	CCGAGTCCTTCTCC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562633172	T>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1562633331	GACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGG>-	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1562634268	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562634737	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562635799	->A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1562636427	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1562644987	T>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1562651617	A>C,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1562664549	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, upstream transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1562664845	C>T	Likely-pathogenic, uncertain-significance	Upstream transcript variant, splice acceptor variant, intron variant, genic upstream transcript variant
rs1562669585	C>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1562671039	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1562677687	->GATA	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant
rs1562678257	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, intron variant, genic upstream transcript variant, stop gained
rs1562689635	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs1562690527	G>A,T	Likely-pathogenic, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1583269216	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1583270185	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583285344	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1583285552	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583286301	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583299686	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1583316404	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583318494	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583319050	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583320992	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583321194	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1583334346	TT>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1583363851	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, stop gained
rs1583374404	TT>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583374436	CACACA>AACACACG	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583374709	A>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583375062	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583375132	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583375182	->AATGAGG	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583403114	TGGGGC>CGGGG	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583410315	TCTT>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583410952	CCTTAAGCTTTAGATCTAGAAAGT>GGATC	Likely-pathogenic	Non coding transcript variant, splice acceptor variant, coding sequence variant, intron variant, genic upstream transcript variant, 5 prime UTR variant
rs1583418616	GT>-	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1583419860	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048727	hsa-miR-96-5p	CLASH	23622248
MIRT043223	hsa-miR-324-5p	CLASH	23622248
MIRT736983	hsa-miR-4328	Microarray, Immunohistochemistry (IHC)	32170146
MIRT2072356	hsa-miR-4455	CLIP-seq
MIRT2072357	hsa-miR-4506	CLIP-seq
MIRT2072358	hsa-miR-4694-3p	CLIP-seq
MIRT2072359	hsa-miR-513c	CLIP-seq
MIRT2072360	hsa-miR-514b-5p	CLIP-seq
MIRT2072361	hsa-miR-522	CLIP-seq
MIRT2072362	hsa-miR-609	CLIP-seq
MIRT2299544	hsa-miR-587	CLIP-seq
MIRT2299545	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003677	Function	DNA binding	IDA	10871409
GO:0003677	Function	DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IDA	11809883
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004519	Function	Endonuclease activity	TAS
GO:0005515	Function	Protein binding	IPI	11292842, 11793469, 12810663, 16083711, 17581638, 18768816, 20533529, 20603073, 20706999, 22252508, 25077178, 25502805, 26496610, 31515488, 32296183, 33961781, 34591612
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IC	10871409
GO:0005634	Component	Nucleus	IDA	23709753
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006298	Process	Mismatch repair	IBA
GO:0006298	Process	Mismatch repair	IDA	10871409, 23709753
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	IMP	9618520
GO:0006298	Process	Mismatch repair	TAS
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IBA
GO:0016446	Process	Somatic hypermutation of immunoglobulin genes	IEA
GO:0016447	Process	Somatic recombination of immunoglobulin gene segments	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030983	Function	Mismatched DNA binding	IEA
GO:0032138	Function	Single base insertion or deletion binding	IDA	10871409
GO:0032300	Component	Mismatch repair complex	IEA
GO:0032389	Component	MutLalpha complex	IBA
GO:0032389	Component	MutLalpha complex	IEA
GO:0032407	Function	MutSalpha complex binding	IDA	16403449
GO:0048298	Process	Positive regulation of isotype switching to IgA isotypes	IEA
GO:0048304	Process	Positive regulation of isotype switching to IgG isotypes	IEA
GO:0140664	Function	ATP-dependent DNA damage sensor activity	IEA

Other IDs

• MIM: 600259
• HGNC: 9122
• e!Ensembl: ENSG00000122512

Protein

• UniProt ID: P54278
• Protein name: Mismatch repair endonuclease PMS2 (EC 3.1.-.-) (DNA mismatch repair protein PMS2) (PMS1 protein homolog 2)
• Protein function: Component of the post-replicative DNA mismatch repair system (MMR) (PubMed:30653781, PubMed:35189042). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mi
• PDB: 1EA6, 1H7S, 1H7U, 5U5R, 6MFQ, 7RCB, 7RCI, 7RCK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13589	HATPase_c_3	33 → 161		Domain
  PF01119	DNA_mis_repair	248 → 363	DNA mismatch repair protein, C-terminal domain	Family
  PF08676	MutL_C	676 → 822	MutL C terminal dimerisation domain	Domain

• Sequence:

  MERAESSSTEPAKAIKPIDRKSVHQICSGQVVLSLSTAVKELVENSLDAGATNIDLKLKD
  YGVDLIEVSDNGCGVEEENFEGLTLKHHTSKIQEFADLTQVETFGFRGEALSSLCALSDV
  TISTCHASAKVGTRLMFDHNGKIIQKTPYPRPRGTTVSVQQLFSTLPVRHKEFQRNIKKE
  YAKMVQVLHAYCIISAGIRVSCTNQLGQGKRQPVVCTGGSPSIKENIGSVFGQKQLQSLI
  PFVQLPPSDSVCEEYGLSCSDALHNLFYISGFISQCTHGVGRSSTDRQFFFINRRPCDPA
  KVCRLVNEVYHMYNRHQYPFVVLNISVDSECVDINVTPDKRQILLQEEKLLLAVLKTSLI
  GMFDSDVNKLNVSQQPLLDVEGNLIKMHAADLEKPMVEKQDQSPSLRTGEEKKDVSISRL
  REAFSLRHTTENKPHSPKTPEPRRSPLGQKRGMLSSSTSGAISDKGVLRPQKEAVSSSHG
  PSDPTDRAEVEKDSGHGSTSVDSEGFSIPDTGSHCSSEYAASSPGDRGSQEHVDSQEKAP
  KTDDSFSDVDCHSNQEDTGCKFRVLPQPTNLATPNTKRFKKEEILSSSDICQKLVNTQDM
  SASQVDVAVKINKKVVPLDFSMSSLAKRIKQLHHEAQQSEGEQNYRKFRAKICPGENQAA
  EDELRKEISKTMFAEMEIIGQFNLGFIITKLNEDIFIVDQHATDEKYNFEMLQQHTVLQG
  QRLIAPQTLNLTAVNEAVLIENLEIFRKNGFDFVIDENAPVTERAKLISLPTSKNWTFGP
  QDVDELIFMLSDSPGVMCRPSRVKQMFASRACRKSVMIGTALNTSEMKKLITHMGEMDHP
  WNCPHGRPTMRHIANLGVISQN

• Sequence length: 862

Pathways

KEGG:

Mismatch repair
Fanconi anemia pathway

Reactome:

Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
Defective Mismatch Repair Associated With MLH1
Defective Mismatch Repair Associated With PMS2
TP53 Regulates Transcription of DNA Repair Genes

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Adrenocortical carcinoma, hereditary	Pathogenic	rs267608172	RCV005886125
Breast and/or ovarian cancer	Likely pathogenic; Pathogenic	rs587779340, rs121434629, rs267608161, rs267608172, rs267608150	RCV003149993 RCV001797999 RCV001798271 RCV003149756 RCV003149757 RCV003149759
Breast carcinoma	Likely pathogenic	rs587782074, rs2128799493	RCV001559122 RCV001579296
Breast-ovarian cancer, familial, susceptibility to, 1	Likely pathogenic; Pathogenic	rs267608161	RCV005861047
Breast-ovarian cancer, familial, susceptibility to, 2	Likely pathogenic; Pathogenic	rs757679199	RCV004555875
Burkitt lymphoma	Pathogenic	rs267608150	RCV000722010
Carcinoma of colon	Likely pathogenic; Pathogenic	rs2128658092, rs2128719778, rs2128819251, rs587778618, rs587781626, rs786201062, rs876661113, rs1057515572, rs1554298067, rs1394474494, rs267608150	RCV001356384 RCV001355946 RCV001355509 RCV001356008 RCV001355078 RCV001354527 RCV001358436 RCV001357852 RCV001358239 RCV001357241 RCV001358610 RCV001353497
Colon adenocarcinoma	Pathogenic	rs267608172	RCV005886124
Colon cancer	Likely pathogenic; Pathogenic	rs1554298756	RCV000677897
Colorectal cancer, non-polyposis	Pathogenic	rs200640585	RCV000148734
Dilated cardiomyopathy 1G	Likely pathogenic	rs121434629	RCV004555831
Endometrial carcinoma	Pathogenic; Likely pathogenic	rs2128656455, rs2128746824, rs2128754923, rs2128774241, rs2128802890, rs587782704, rs587779333, rs121434629, rs1554294505, rs988423880, rs1554306353, rs587778617	RCV001355610 RCV001355016 RCV001357940 RCV001356598 RCV001358269 RCV001353753 RCV000500454 RCV001353458 RCV000503190 RCV000500977 RCV000502451 RCV001353689 RCV000076806
Familial cancer of breast	Likely pathogenic; Pathogenic	rs876659736	RCV005895045
Gastric cancer	Pathogenic; Likely pathogenic	rs587780059, rs1785714291, rs2536499491, rs760228510, rs876659736, rs63750871, rs758304323, rs730881919, rs267608154, rs200640585	RCV003162538 RCV003164536 RCV003164701 RCV003165579 RCV003165571 RCV003162222 RCV003168841 RCV003159643 RCV003162500 RCV003162501
Hereditary breast ovarian cancer syndrome	Likely pathogenic	rs267608153	RCV004689447
Hereditary cancer	Pathogenic	rs587782704	RCV000509483
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2128658092, rs2128746842, rs2128819251, rs771928911, rs1202370194, rs2128674468, rs2128683310, rs6972869, rs756653193, rs1562689635, rs267608159, rs2128737358, rs745487791, rs2128671557, rs2128722209, rs778352959, rs2128720948, rs1064795705, rs587780059, rs188006077, rs587780062, rs587780064, rs757110564, rs587778618, rs587780724, rs2128658792, rs2128672594, rs2128788650, rs587782336, rs779512948, rs2128726933, rs2128657907, rs2128775109, rs756358866, rs63749862, rs2128830113, rs1554309086, rs587780054, rs1554309080, rs587781317, rs587781339, rs587781395, rs587781626, rs587781716, rs587782074, rs141577476, rs587782704, rs587779333, rs587782710, rs587782787, rs2128866103, rs2128866045, rs2128865982, rs373885654, rs1785365441, rs1554298087, rs2536452478, rs2536448295, rs2536496563, rs2128737215, rs2536445489, rs786204133, rs2535939866, rs2536495735, rs2535843816, rs2536447248, rs2536444783, rs2535938248, rs1554298056, rs2128736312, rs2536322400, rs2536319279, rs1171400724, rs1785714291, rs2536434515, rs876660196, rs2536431876, rs876660198, rs2536323868, rs2536319634, rs1784808075, rs730881916, rs1233470165, rs2536325533, rs587782789, rs2535832871, rs2536443134, rs1064794905, rs2128787316, rs63750049, rs2536214222, rs2535825476, rs2536216295, rs2536588880, rs2128844640, rs2536153335, rs2536153213, rs1159969834, rs2535827000, rs2128845860, rs2536155330, rs2536146406, rs2536017434, rs2536008648, rs2536304713, rs2536301962, rs2536232466, rs2536231064, rs762540878, rs2536220015, rs1583364895, rs2536154494, rs2536155997, rs2536148799, rs876658712, rs2536138966, rs2536140566, rs878854059, rs779064342, rs1554302295, rs267608150, rs573125799, rs2536222225, rs267608149, rs2536215574, rs2128786265, rs1562664845, rs786201047, rs750777196, rs2536009025, rs1405625567, rs2128748540, rs2535936923, rs786201039, rs786201062, rs778531080, rs2535934593, rs786203073, rs63751228, rs751261543, rs267608154, rs2128725871, rs786203954, rs786202098, rs1554297399, rs587779340, rs2535932377, rs763308607, rs2535747032, rs751153838, rs1283674079, rs1057517801, rs2535738640, rs2128754913, rs186577215, rs2535808559, rs1554297534, rs2535933581, rs2128726258, rs1583316404, rs2535729434, rs2535728872, rs1783135008, rs376142390, rs2536579397, rs587779329, rs2535746483, rs2535745578, rs2128723564, rs886062400, rs2535796635, rs2535773926, rs2536706841, rs115052399, rs2535751690, rs2535746579, rs2535748850, rs1212790997, rs2535930387, rs1783532593, rs2535722923, rs2535718053, rs63750250, rs2128722695, rs2535724569, rs1782962828, rs587781909, rs2536515054, rs267608172, rs2535526578, rs2128702096, rs1562605623, rs2128684295, rs2535401325, rs2535385489, rs2535342363, rs753030033, rs1785410333, rs766865355, rs764171734, rs1785386998, rs2128721689, rs2535716936, rs2536703309, rs2535714534, rs2535706177, rs2535549765, rs2535534097, rs2535926151, rs2535387771, rs2535324144, rs2535321025, rs587782828, rs267608170, rs2535556776, rs2535552679, rs2128704530, rs1562695294, rs2535536735, rs1562615123, rs1060503131, rs2128682979, rs1785414812, rs2535307633, rs2535203418, rs2535179997, rs2535179412, rs2536500457, rs587780045, rs773174603, rs2535928309, rs1554305000, rs2535538577, rs2535397538, rs2128683356, rs2128865814, rs2535308125, rs2535307156, rs2536500736, rs2128847171, rs2128826930, rs2536707454, rs786204104, rs869320619, rs1782436364, rs2535722631, rs863224498, rs863224497, rs863224496, rs863224450, rs863224676, rs1196530552, rs3209663, rs759151952, rs876661113, rs876661203, rs766389591, rs760228510, rs763939668, rs774583397, rs876659480, rs876659900, rs876660459, rs876658862, rs876660075, rs587782898, rs876658964, rs876659736, rs878854037, rs267608153, rs1784806713, rs63750871, rs587776715, rs63751466, rs63750451, rs1057515572, rs121434629, rs2535393241, rs2536219337, rs2536496345, rs2535709534, rs886039646, rs886039709, rs886039615, rs2536141636, rs2536493517, rs2536327300, rs2536453194, rs267608158, rs2535736045, rs2535341455, rs2128704364, rs2536215101, rs759692592, rs2535333011, rs2535933115, rs1554304696, rs2536435681, rs2536500972, rs2536584230, rs2536590297, rs2535713122, rs2535311207, rs2535782788, rs2128737525, rs2536153921, rs2536494418, rs2535823786, rs1394474494, rs587779324, rs2535760285, rs2128721764, rs2535699474, rs2536306786, rs769742496, rs1057524433, rs1060503142, rs111466480, rs1060503137, rs746766787, rs758304323, rs764342199, rs876659162, rs1554300763, rs1060503148, rs1060503110, rs1060503138, rs1064796500, rs1064794566, rs1064795345, rs1064793234, rs757324104, rs1064795447, rs1064796190, rs1064793868, rs1064793365, rs1554304940, rs1064794083, rs1064794152, rs988423880, rs1458321358, rs730881919, rs1554294393, rs1554297061, rs1554297040, rs1554298741, rs1554293920, rs1554301486, rs1554304974, rs1231406078, rs1554293991, rs1554297488, rs1064794577, rs1554297764, rs1554298082, rs876661256, rs1554293810, rs939641251, rs1554306391, rs1554304979, rs1554297058, rs1554297781, rs1554304957, rs1554298067, rs1554306288, rs1554299430, rs1554303861, rs116373169, rs1554300689, rs1554297877, rs1554306528, rs1437858319, rs1554301561, rs730881914, rs1554297125, rs753256070, rs1554297962, rs1554294448, rs1554298786, rs1554293975, rs1554297153, rs1554297164, rs1554297636, rs1461669945, rs1554306605, rs1554304745, rs1554298756, rs781078805, rs1562632035, rs1562669585, rs1562604682, rs267608147, rs1562678257, rs1562633172, rs1261282733, rs1562626070, rs1562671039, rs1562626011, rs1562626121, rs1562636427, rs1562651617, rs1583318494, rs1243063129, rs757679199, rs1583375182, rs36038802, rs1583374709, rs1583375132, rs1583410952, rs1583363851, rs1583269216, rs1583270185, rs1583285344, rs1583286301, rs267608161, rs1583319050, rs1583321194, rs1583334346, rs1583364867, rs1583374404, rs1583374436, rs1583375062, rs1583403114, rs1224505288, rs1583410315, rs1583418616, rs767028531, rs1325835006, rs1583419860, rs1782934080, rs1782958183, rs63750456, rs1783004175, rs1783147885, rs1783516106, rs1344095646, rs1784536095, rs1784802468, rs1221485925, rs1307026290, rs1782994894, rs1783098862, rs758250810, rs1785187053, rs1785429311, rs1785429855, rs1785715961, rs1785723689, rs1784783734, rs1785199575, rs1782465728, rs1782935566, rs1783042060, rs1783529876, rs1784546407, rs1784787989, rs1782978316, rs1782992250, rs956005905, rs1784291698, rs1785207289, rs267608156, rs587779326, rs587778617, rs267608169, rs63750793, rs63750490, rs63751422, rs201451115, rs63750695, rs267608173, rs267608160, rs1554306445, rs587779338, rs63751029, rs267608148, rs587779343, rs63750261, rs587779344, rs267608151, rs63750246, rs200640585, rs143277125, rs587779347, rs1785419483	RCV002456535 RCV002456536 RCV006406921 RCV003365376 RCV002368217 RCV003284293 RCV002432065 RCV002404903 RCV002509701 RCV002329404 RCV001525231 RCV001523860 RCV002368555 RCV004039305 RCV002414344 RCV002509698 RCV002406890 RCV001805683 RCV000574743 RCV000115693 RCV000216292 RCV000563759 RCV002386875 RCV000132169 RCV004943759 RCV002449542 RCV002449543 RCV006406981 RCV002423147 RCV002458980 RCV005397050 RCV004044364 RCV002449578 RCV002407188 RCV002324232 RCV002423111 RCV006407027 RCV002442892 RCV002334976 RCV000129052 RCV000129110 RCV000129239 RCV000129728 RCV000129899 RCV000130565 RCV000131264 RCV000131992 RCV000132155 RCV000132181 RCV000132182 RCV000132336 RCV002257211 RCV002257212 RCV002258548 RCV002453477 RCV002324787 RCV002451892 RCV002349017 RCV002357354 RCV002328187 RCV002322939 RCV002364047 RCV002333703 RCV002332183 RCV002326051 RCV002445745 RCV002455167 RCV002330277 RCV002328329 RCV002338525 RCV002340773 RCV002349724 RCV002359642 RCV002357874 RCV002335994 RCV002335996 RCV002338167 RCV002338257 RCV000160895 RCV002346947 RCV002347185 RCV002347317 RCV002356029 RCV002353897 RCV002335777 RCV002352042 RCV002352046 RCV002344708 RCV002353704 RCV002340042 RCV002394024 RCV002396207 RCV002416769 RCV002419047 RCV002419061 RCV002419089 RCV002419145 RCV002430339 RCV002430350 RCV002430425 RCV002362089 RCV002391577 RCV002427905 RCV002412509 RCV002371227 RCV002378677 RCV002385315 RCV002369419 RCV002364980 RCV002365050 RCV002365051 RCV002365096 RCV002367371 RCV002367433 RCV002384921 RCV002384923 RCV002409822 RCV002421287 RCV002421338 RCV002421419 RCV002447775 RCV002447948 RCV002376294 RCV002449944 RCV002378439 RCV002378481 RCV002364812 RCV002380309 RCV002396422 RCV002400481 RCV002419217 RCV002419291 RCV002412424 RCV002419292 RCV002419304 RCV002412438 RCV002419463 RCV002447714 RCV002371709 RCV002371559 RCV002383300 RCV002380538 RCV000162416 RCV000162471 RCV000165222 RCV002389901 RCV000166215 RCV000166728 RCV002398363 RCV000162714 RCV000162437 RCV000162412 RCV000165791 RCV002395072 RCV000167479 RCV000164744 RCV002403863 RCV000162757 RCV002403907 RCV000165585 RCV002405925 RCV002414507 RCV002401389 RCV002401439 RCV002407558 RCV002387394 RCV002382880 RCV002387555 RCV002405661 RCV002392611 RCV002392616 RCV002403541 RCV002414796 RCV002410220 RCV002410268 RCV002385708 RCV002403400 RCV002401269 RCV002401270 RCV002398819 RCV002398911 RCV002404105 RCV002410644 RCV002383808 RCV002403013 RCV002398680 RCV002394806 RCV002405978 RCV002405983 RCV002406206 RCV002404006 RCV002412968 RCV002413002 RCV002413044 RCV002414984 RCV002412652 RCV002412687 RCV002412834 RCV002412869 RCV002422067 RCV002422300 RCV002432777 RCV002432779 RCV002432780 RCV002432799 RCV002432800 RCV002432834 RCV002445967 RCV002446097 RCV002457930 RCV002431097 RCV002455616 RCV002434936 RCV002434940 RCV002408099 RCV002408111 RCV002408255 RCV002408418 RCV002421643 RCV002419945 RCV002417843 RCV002430629 RCV002443669 RCV002443670 RCV002448441 RCV002448482 RCV002455571 RCV002417268 RCV002417270 RCV002419677 RCV002419744 RCV002417469 RCV002417581 RCV002417637 RCV002417727 RCV002428089 RCV002457623 RCV002459980 RCV002450486 RCV002455834 RCV002433338 RCV002431177 RCV002417053 RCV002417249 RCV002424065 RCV002424165 RCV002424306 RCV002420088 RCV002420096 RCV002446320 RCV002450466 RCV002459958 RCV002428799 RCV002438057 RCV002444102 RCV002435655 RCV004943764 RCV001179765 RCV004942994 RCV005465778 RCV004064999 RCV002390532 RCV001804935 RCV000708622 RCV000562604 RCV002345713 RCV000561780 RCV004946158 RCV005396635 RCV001011895 RCV000575263 RCV002429081 RCV000579913 RCV000568505 RCV002415912 RCV000221040 RCV000219006 RCV000216032 RCV000221161 RCV000220993 RCV000216559 RCV000215676 RCV000215549 RCV000219153 RCV000218863 RCV000219075 RCV000219633 RCV002255326 RCV002399814 RCV002390606 RCV002372260 RCV000573516 RCV003164990 RCV000115695 RCV003298029 RCV000129304 RCV000570955 RCV000218575 RCV001012887 RCV000115657 RCV003187277 RCV003187297 RCV003187302 RCV003187317 RCV000564745 RCV002450791 RCV005396859 RCV000575861 RCV003302192 RCV003306364 RCV003293459 RCV003306370 RCV005705139 RCV004654200 RCV003368283 RCV003358293 RCV005705170 RCV005467963 RCV004654228 RCV004654229 RCV003585404 RCV006411844 RCV005467964 RCV004364761 RCV005399407 RCV005705172 RCV003585405 RCV004661678 RCV005392648 RCV004661703 RCV003585726 RCV003585728 RCV003585736 RCV003585742 RCV003585746 RCV003585756 RCV004371870 RCV006428099 RCV004943302 RCV004518698 RCV004518705 RCV004518710 RCV004518748 RCV000561668 RCV001022512 RCV002429459 RCV001011228 RCV003168843 RCV001020538 RCV000572864 RCV002374807 RCV000775368 RCV000574410 RCV002402290 RCV002446830 RCV002379478 RCV005401448 RCV004649166 RCV001015794 RCV001013897 RCV002402409 RCV000566950 RCV002431407 RCV001026570 RCV001183707 RCV002367652 RCV000758169 RCV002350052 RCV002446929 RCV001188863 RCV000569035 RCV002329147 RCV000772161 RCV001026032 RCV001182957 RCV000573476 RCV000574914 RCV000569016 RCV002350173 RCV002420350 RCV002413441 RCV002448606 RCV002395286 RCV000771715 RCV000574352 RCV000564513 RCV000565996 RCV000569474 RCV000564667 RCV000573779 RCV000569354 RCV000561211 RCV000570757 RCV000566101 RCV000571044 RCV000565606 RCV000564600 RCV000562369 RCV000561160 RCV000564836 RCV000566107 RCV000569315 RCV000566169 RCV000572925 RCV000564457 RCV000566253 RCV000563218 RCV000574316 RCV000575923 RCV000584297 RCV000581402 RCV000583497 RCV000581876 RCV000581480 RCV000584111 RCV002420562 RCV002413666 RCV006406704 RCV006406706 RCV002377243 RCV002431760 RCV002457987 RCV002377347 RCV001805233 RCV002442377 RCV006406719 RCV002406494 RCV006406717 RCV002386127 RCV000772968 RCV001177939 RCV004944082 RCV004944131 RCV002422488 RCV003584714 RCV002422563 RCV002424609 RCV002442511 RCV001027099 RCV002360720 RCV000777285 RCV000708623 RCV002369980 RCV002406685 RCV003303232 RCV001026254 RCV000773738 RCV000772901 RCV000772918 RCV000772816 RCV000776748 RCV000776800 RCV002397707 RCV005392407 RCV004027545 RCV002372283 RCV002332681 RCV002442765 RCV001026417 RCV000850052 RCV002382220 RCV002391046 RCV002372709 RCV001015801 RCV001015665 RCV001014991 RCV001014710 RCV001014508 RCV001011878 RCV001011151 RCV001017352 RCV001019273 RCV001027205 RCV001026585 RCV001026525 RCV001026255 RCV001022630 RCV001022545 RCV001015181 RCV001011026 RCV001025441 RCV001013976 RCV001015570 RCV001017449 RCV001025972 RCV001015501 RCV001015118 RCV002409411 RCV002409446 RCV002411572 RCV002400270 RCV001178389 RCV002434436 RCV002374966 RCV002379481 RCV003160577 RCV004944822 RCV004031668 RCV002409456 RCV001189004 RCV001175781 RCV001183135 RCV001192082 RCV001186433 RCV001178432 RCV001185631 RCV001178875 RCV001186032 RCV001179571 RCV001189613 RCV002339568 RCV002418714 RCV003584849 RCV002402619 RCV002418721 RCV002365908 RCV005402986 RCV002348734 RCV002411849 RCV002402740 RCV002436879 RCV002375234 RCV002375243 RCV001524006 RCV002339699 RCV000569722 RCV001017357 RCV000223405 RCV001185073 RCV002399465 RCV005401324 RCV000129628 RCV004943751 RCV000115666 RCV000164595 RCV000164116 RCV000128864 RCV000564071 RCV002415570 RCV000223542 RCV000218995 RCV000163763 RCV000575018 RCV000572699 RCV002444544 RCV000130249 RCV002257402 RCV002354272 RCV000115701 RCV000132294 RCV001025973 RCV000115703 RCV002408600 RCV002415571 RCV002408601 RCV000216774 RCV000165221 RCV000215563 RCV000115711 RCV000570620 RCV000132347 RCV002375329 RCV002430068
Hereditary nonpolyposis colon cancer	Likely pathogenic; Pathogenic	rs745487791, rs2128671557, rs2128720948, rs587780059, rs188006077, rs587780062, rs587778618, rs587781317, rs587781395, rs587781626, rs141577476, rs587782704, rs587782787, rs2535939866, rs1785714291, rs786201039, rs778531080, rs786203073, rs267608154, rs786201047, rs587779340, rs267608159, rs863224450, rs863224676, rs3209663, rs876661113, rs876659480, rs876659736, rs267608153, rs63751466, rs63750049, rs63750451, rs1057515572, rs2535933115, rs756653193, rs2535844060, rs1057517801, rs769742496, rs1060503142, rs111466480, rs730881919, rs1554297534, rs1554304979, rs763308607, rs1437858319, rs730881914, rs1261282733, rs373885654, rs1562626121, rs1554301495, rs1583319050, rs587779333, rs1783147885, rs1307026290, rs267608149, rs1782941753, rs267608156, rs587779326, rs587778617, rs587779330, rs267608169, rs63750490, rs63751422, rs201451115, rs267608161, rs587779338, rs587779343, rs63750261, rs267608150, rs267608151, rs63750246, rs143277125	RCV001527064 RCV001553597 RCV005409013 RCV001731380 RCV005237549 RCV001264438 RCV003155080 RCV003389702 RCV003330500 RCV000587959 RCV001175479 RCV002307406 RCV005055606 RCV005239361 RCV003988000 RCV000781734 RCV003317111 RCV006263704 RCV001797652 RCV002271431 RCV001192582 RCV001255210 RCV003987445 RCV005418014 RCV001251273 RCV004782311 RCV001193818 RCV001193969 RCV004525906 RCV001249235 RCV001193217 RCV005238758 RCV002265552 RCV001375488 RCV001193819 RCV003478973 RCV004526986 RCV003988452 RCV004767545 RCV002222501 RCV001193216 RCV003114589 RCV005407122 RCV003114636 RCV002222552 RCV005240224 RCV001280603 RCV001193817 RCV005407760 RCV006268968 RCV004800569 RCV005431918 RCV001824879 RCV001280590 RCV003387954 RCV005056834 RCV003994200 RCV003396795 RCV001193213 RCV003226187 RCV001193255 RCV001255553 RCV003478997 RCV002307391 RCV001280569 RCV003323387 RCV002228187 RCV001280543 RCV002298464 RCV001193971 RCV005237510 RCV001778704 RCV001804827 RCV002469006 RCV005237511 RCV001255504 RCV005431463
Hereditary nonpolyposis colorectal neoplasms	Likely pathogenic; Pathogenic	rs2128658092, rs2128746842, rs2128676082, rs771928911, rs1202370194, rs2128673214, rs2128674468, rs2128683310, rs786202202, rs267608172, rs6972869, rs2128736116, rs2128737155, rs1214597671, rs2128788145, rs1562677770, rs1583387894, rs1562689635, rs786202669, rs2128846824, rs267608159, rs745487791, rs587782074, rs1064795705, rs587780059, rs188006077, rs587780062, rs587780064, rs779064342, rs757110564, rs587778618, rs587780724, rs2128658792, rs2128672594, rs2128799910, rs2128788650, rs2128721171, rs2128754982, rs587782336, rs2128815961, rs779512948, rs2128865814, rs2128726933, rs864622600, rs1172837844, rs2128829368, rs2128657907, rs2128818786, rs2128755485, rs2128775109, rs1461669945, rs2128788235, rs756358866, rs63749862, rs2128830113, rs1554309086, rs587780054, rs1282857832, rs1554309080, rs2128845440, rs2128817368, rs587781317, rs587781339, rs587781395, rs587781626, rs587781716, rs2128737282, rs141577476, rs587782704, rs587779333, rs587782710, rs587782787, rs587779338, rs373885654, rs2536452478, rs2535938248, rs1785714291, rs876660196, rs1233470165, rs587782789, rs2535825476, rs2536588880, rs2536008648, rs1583364895, rs2536148799, rs2536222225, rs1562664845, rs786201039, rs786201062, rs778531080, rs786203073, rs63751228, rs267608154, rs786201047, rs573125799, rs786203954, rs786202098, rs587779340, rs2535932377, rs763308607, rs751153838, rs2535342363, rs1785410333, rs1562695294, rs786204104, rs869320619, rs1782436364, rs2535768807, rs2536493646, rs779013546, rs2535764770, rs2536591821, rs111466480, rs2128802141, rs2536225468, rs2535722631, rs2535550306, rs2536216638, rs2535727137, rs863224498, rs863224497, rs863224496, rs863224450, rs863224676, rs1182043656, rs2535766476, rs1196530552, rs2535935206, rs2536517418, rs1782451817, rs3209663, rs759151952, rs876661113, rs876661203, rs766389591, rs760228510, rs763939668, rs876659480, rs876659900, rs876660459, rs876658862, rs587782898, rs876658964, rs876659736, rs878854037, rs878854060, rs878854059, rs267608153, rs1784806713, rs63750871, rs587776715, rs63751466, rs63750049, rs63750451, rs121434629, rs2536496345, rs886039646, rs886039615, rs267608158, rs1784309424, rs2535188407, rs2536580654, rs764171734, rs1784808623, rs2128801488, rs2535933115, rs2536435681, rs876661272, rs2536326564, rs1785429311, rs1255919164, rs2535775377, rs2128816708, rs2536511201, rs2536584230, rs2535328206, rs2536455432, rs2535536400, rs2536590297, rs2535713122, rs2536497437, rs2536453645, rs2535187362, rs63750994, rs2535556399, rs2535731339, rs2536218047, rs2535841923, rs2535823786, rs1394474494, rs2536447695, rs2535844060, rs1057517801, rs769742496, rs1057524433, rs1060503142, rs1060503137, rs746766787, rs758304323, rs764342199, rs876659162, rs1554300763, rs730881920, rs1060503148, rs1060503110, rs1060503138, rs1064796500, rs1064794566, rs1064793234, rs757324104, rs1064794905, rs1064795447, rs1064796190, rs1064793868, rs1554304940, rs1064794083, rs1064794173, rs1064794152, rs1554292880, rs988423880, rs1458321358, rs730881919, rs1554298087, rs2536709031, rs1554295967, rs1554297040, rs1554298741, rs1554294393, rs1554297523, rs1554293920, rs1554301486, rs1554304974, rs1231406078, rs1554293991, rs1554297488, rs1554297534, rs1064794577, rs1554297764, rs1554298082, rs876661256, rs1554298056, rs1554293810, rs939641251, rs1554304979, rs1554297058, rs1554298067, rs1554306288, rs1554300689, rs1554297877, rs1437858319, rs1554297125, rs753256070, rs1554297962, rs1554294448, rs1554297082, rs1554297564, rs1554293959, rs587782175, rs1554297285, rs1554298786, rs1554293975, rs1554297164, rs1554297342, rs1554297636, rs1554304745, rs1554298756, rs1562605623, rs1562614946, rs781078805, rs1562626204, rs1562629003, rs1562632035, rs587782602, rs1562634737, rs1562635799, rs1562669585, rs1562616355, rs1562644987, rs1562711587, rs1562598658, rs1562604682, rs267608147, rs1562678257, rs1562633172, rs1261282733, rs1562626070, rs1562671039, rs1562626011, rs1562636427, rs1583285552, rs1583299686, rs1583318494, rs1583320992, rs1243063129, rs757679199, rs1583375182, rs762387250, rs36038802, rs1583374709, rs1583316404, rs1583363851, rs1583269216, rs1583285344, rs1583319050, rs1583334346, rs1562651617, rs1583410315, rs767028531, rs1325835006, rs1782934080, rs1782947222, rs1782958183, rs1782962828, rs1064793426, rs63750456, rs1783004175, rs1783147885, rs1783516106, rs1344095646, rs1784299649, rs1784536095, rs1784802468, rs1221485925, rs1307026290, rs267608149, rs758250810, rs1785187053, rs1785429855, rs1785715961, rs1784783734, rs1785199575, rs1782465728, rs1782935566, rs1782949480, rs1783042060, rs1783113930, rs1783123619, rs1783529876, rs1784546407, rs1784787989, rs1785372371, rs1782978316, rs1782992250, rs956005905, rs1783532593, rs1784291698, rs1785363766, rs761134229, rs1785420264, rs267608156, rs587779326, rs587778617, rs587779330, rs267608169, rs63750477, rs63750793, rs63750250, rs63750490, rs63751422, rs201451115, rs267608170, rs267608161, rs63750695, rs587779336, rs267608173, rs267608160, rs1554306445, rs63751029, rs267608148, rs587779343, rs63750261, rs267608150, rs587779344, rs267608151, rs63750246, rs200640585, rs143277125, rs587779347, rs1785419483	RCV003771042 RCV001871933 RCV001379912 RCV001378055 RCV001378993 RCV001389717 RCV001387859 RCV001380627 RCV001380402 RCV001387075 RCV001387397 RCV001387948 RCV001381754 RCV001388299 RCV001387254 RCV001380259 RCV001386402 RCV001383635 RCV001380187 RCV001381904 RCV003594132 RCV001873720 RCV002568385 RCV002541442 RCV000461697 RCV000465201 RCV000552808 RCV000697325 RCV001999638 RCV002013192 RCV000530464 RCV002228446 RCV001908651 RCV001884593 RCV001997083 RCV001964514 RCV001901738 RCV001958886 RCV001958970 RCV002020139 RCV002047937 RCV002027535 RCV002049582 RCV001917209 RCV002035249 RCV001955396 RCV001960654 RCV001960671 RCV001880431 RCV001922940 RCV001951001 RCV001951077 RCV001956423 RCV002039555 RCV001969809 RCV001950104 RCV001950116 RCV001918193 RCV001958693 RCV001938071 RCV001910164 RCV000234750 RCV000206112 RCV002514715 RCV000469291 RCV000233229 RCV000529500 RCV003594168 RCV000818298 RCV000684779 RCV000524458 RCV000527509 RCV000227297 RCV000469886 RCV003759086 RCV001044002 RCV003102466 RCV003096646 RCV003759135 RCV003594219 RCV005208550 RCV005096812 RCV005096813 RCV003594239 RCV003099810 RCV005097354 RCV003594236 RCV003594242 RCV003099961 RCV005097146 RCV003594241 RCV001066692 RCV000547624 RCV001201579 RCV000229520 RCV001388696 RCV000704349 RCV000629674 RCV000627717 RCV001850369 RCV000552914 RCV000524468 RCV003100781 RCV000792721 RCV005097672 RCV003759713 RCV003594287 RCV005098166 RCV003101062 RCV001389137 RCV000630142 RCV002605973 RCV002616916 RCV002642364 RCV002642365 RCV002824444 RCV002820213 RCV002819441 RCV002806585 RCV002838653 RCV002833673 RCV002851332 RCV002866786 RCV002898799 RCV002857326 RCV002908898 RCV000198235 RCV002228902 RCV001389426 RCV000200079 RCV001377722 RCV000196505 RCV003030945 RCV003026931 RCV003027385 RCV003051936 RCV003052000 RCV003066212 RCV000203802 RCV001381485 RCV000694702 RCV000228982 RCV000533097 RCV000807900 RCV000473579 RCV001069268 RCV002515651 RCV001056896 RCV000794805 RCV005090083 RCV000227122 RCV003758730 RCV000541550 RCV000536196 RCV001854704 RCV000458145 RCV001388048 RCV000230207 RCV000234194 RCV000230352 RCV000228489 RCV003759780 RCV000524474 RCV002228025 RCV000524467 RCV000530149 RCV000524451 RCV000524432 RCV003759783 RCV000552542 RCV005090300 RCV003594652 RCV003594695 RCV005062960 RCV003759879 RCV003759864 RCV003594681 RCV003778513 RCV003594682 RCV003759865 RCV003594797 RCV003594840 RCV003594750 RCV003594874 RCV003595224 RCV003595266 RCV003595040 RCV003595153 RCV003593366 RCV003593680 RCV003593707 RCV003593766 RCV003594463 RCV003594595 RCV003760794 RCV003760787 RCV003760780 RCV003760811 RCV003760914 RCV003758320 RCV003758459 RCV003758670 RCV003759394 RCV003759284 RCV003759413 RCV003842916 RCV005104645 RCV000551730 RCV000815178 RCV000535164 RCV000629760 RCV000466795 RCV000468932 RCV000469787 RCV000459758 RCV000469599 RCV002230443 RCV000456471 RCV002230427 RCV002230424 RCV002230132 RCV000477621 RCV002230130 RCV005090975 RCV000541652 RCV000699239 RCV000818334 RCV001851199 RCV000539605 RCV000629800 RCV001223326 RCV002525844 RCV000690271 RCV005090959 RCV000800178 RCV001851174 RCV003593975 RCV000818274 RCV000530268 RCV000550672 RCV000535555 RCV000549263 RCV003862456 RCV000554077 RCV000552459 RCV000530735 RCV000528011 RCV000533158 RCV000527294 RCV000543414 RCV000536170 RCV000551564 RCV001046563 RCV001386315 RCV005091396 RCV003758846 RCV001390619 RCV000822764 RCV000693888 RCV002526794 RCV001858330 RCV001386454 RCV000798085 RCV000630211 RCV000630233 RCV001390667 RCV000798713 RCV001378577 RCV000695663 RCV001378093 RCV000811783 RCV005091515 RCV000810208 RCV001219508 RCV003758870 RCV001860254 RCV003758874 RCV000629987 RCV000629892 RCV000629959 RCV000630130 RCV000630187 RCV000629948 RCV000630158 RCV000629989 RCV001244400 RCV001861685 RCV003758897 RCV000695167 RCV001381062 RCV001064263 RCV003758908 RCV001379300 RCV000706835 RCV000706669 RCV000689584 RCV000703177 RCV000687979 RCV000693535 RCV000702834 RCV000688634 RCV000691733 RCV000700344 RCV000707117 RCV000695993 RCV000689815 RCV000698441 RCV000702872 RCV000702280 RCV000694626 RCV000687090 RCV000696743 RCV002534479 RCV001219157 RCV000811623 RCV001378056 RCV001221708 RCV003594031 RCV000811588 RCV000808396 RCV000797004 RCV000818316 RCV000820683 RCV000800353 RCV000795960 RCV000812694 RCV000815585 RCV000814188 RCV000823059 RCV002538221 RCV001246116 RCV002549690 RCV003758970 RCV002550803 RCV001232897 RCV001382293 RCV001860942 RCV002549412 RCV001383035 RCV001242115 RCV001873297 RCV003758989 RCV001045937 RCV001057984 RCV001053230 RCV001039058 RCV001064864 RCV001061254 RCV001047830 RCV001050827 RCV001037467 RCV001064447 RCV001038171 RCV001036284 RCV001069922 RCV001061540 RCV001058031 RCV001053111 RCV001054912 RCV002559044 RCV001859159 RCV005093930 RCV003594102 RCV001389865 RCV003594103 RCV001380257 RCV001216994 RCV001210495 RCV001212871 RCV001204915 RCV001209543 RCV001212555 RCV001207141 RCV001211703 RCV001202285 RCV001212929 RCV001211615 RCV001219564 RCV001230691 RCV001236202 RCV001227131 RCV001235880 RCV001231607 RCV001226105 RCV001233504 RCV001229997 RCV001240259 RCV001246885 RCV001243900 RCV000629951 RCV000813059 RCV000627692 RCV000524431 RCV001034628 RCV000524446 RCV002514361 RCV002514362 RCV000524450 RCV000540895 RCV000524452 RCV000627727 RCV000524456 RCV005089524 RCV000524457 RCV000539044 RCV000524460 RCV003593905 RCV001239541 RCV000629975 RCV000629965 RCV000525929 RCV001854342 RCV005055566 RCV000524479 RCV001854344 RCV001380258 RCV001201395 RCV003593906 RCV000815163 RCV000630112 RCV000524480 RCV000627706 RCV000524483 RCV000524484 RCV000686600 RCV000531809 RCV002537934 RCV005094328
Hypertrophic cardiomyopathy 9	Likely pathogenic	rs121434629	RCV004555831
Inherited MMR deficiency (Lynch syndrome)	Likely pathogenic; Pathogenic	rs587781626, rs587779340, rs876661113, rs760228510, rs63751466, rs63750049, rs121434629, rs2536493517, rs2536306786, rs63750490, rs587779333, rs587779343, rs267608153	RCV006268621 RCV005252784 RCV005863058 RCV006277755 RCV004691719 RCV006277643 RCV004691720 RCV006437205 RCV005645796 RCV005646769 RCV006439628 RCV006439629 RCV005237512
Lung cancer	Likely pathogenic	rs587779347	RCV005886127
Lymphoma	Pathogenic	rs267608150	RCV000722010
Lynch syndrome	Likely pathogenic; Pathogenic	rs2128775362, rs6972869, rs1583387894, rs587780059, rs188006077, rs587780062, rs587780064, rs587778618, rs587781395, rs587782074, rs141577476, rs587782704, rs587779333, rs373885654, rs786204133, rs587782789, rs2535825476, rs1159969834, rs1202370194, rs786203073, rs573125799, rs786202098, rs587779340, rs763308607, rs751153838, rs2128754913, rs2535706177, rs2128704530, rs2128826930, rs786204104, rs863224496, rs267608159, rs863224676, rs759151952, rs876661113, rs766389591, rs760228510, rs876658964, rs876659736, rs587781716, rs267608153, rs63750871, rs587776715, rs63751466, rs63750049, rs63750451, rs121434629, rs2535782788, rs2536153921, rs2536324863, rs2536589369, rs2536707355, rs2535326385, rs1785365441, rs111466480, rs758304323, rs876659162, rs1064796500, rs1064793868, rs1554304940, rs1064794083, rs1064795705, rs1554292880, rs988423880, rs1554308880, rs1458321358, rs1231406078, rs1554298056, rs939641251, rs1554304979, rs1554303861, rs1554297877, rs1064794566, rs1554301495, rs1554297125, rs753256070, rs1554297962, rs1554294448, rs1554298756, rs1562632035, rs1562664845, rs1562633172, rs863224498, rs1562636427, rs1562633331, rs1562634268, rs757679199, rs1583374709, rs267608147, rs267608149, rs1782935566, rs1784787989, rs757110564, rs267608156, rs587779326, rs267608158, rs587778617, rs63750106, rs587779329, rs587779324, rs587779330, rs267608169, rs63750477, rs63750793, rs63750250, rs63750490, rs63751422, rs201451115, rs267608170, rs267608161, rs267608172, rs63750695, rs587779336, rs267608173, rs267608160, rs1554306445, rs587779338, rs63751029, rs267608148, rs587779343, rs63750261, rs267608150, rs587779344, rs267608154, rs63750246, rs200640585, rs143277125, rs587779347, rs1785419483	RCV001357288 RCV004808038 RCV004017829 RCV004556719 RCV004806065 RCV003997292 RCV003997296 RCV003997356 RCV004556740 RCV004556742 RCV000475400 RCV000228992 RCV004806082 RCV000149895 RCV004005657 RCV004017444 RCV004017926 RCV004017929 RCV004017927 RCV004017928 RCV000603093 RCV000168447 RCV003995362 RCV000205731 RCV003995434 RCV004808315 RCV004007294 RCV004007381 RCV004017934 RCV004017937 RCV000168035 RCV004806187 RCV003996965 RCV003997026 RCV000210104 RCV004017528 RCV003998638 RCV001174885 RCV000589130 RCV003997969 RCV003998544 RCV004806244 RCV000234016 RCV000614513 RCV000076872 RCV000076802 RCV000076858 RCV000076793 RCV000076834 RCV000076807 RCV004011536 RCV004011537 RCV004018093 RCV004018094 RCV004018095 RCV004018117 RCV004018331 RCV004001879 RCV000825602 RCV004017630 RCV000780639 RCV004556788 RCV004003328 RCV004002311 RCV004806364 RCV000503369 RCV004806377 RCV000503298 RCV004003553 RCV004017677 RCV004001070 RCV004017680 RCV004001202 RCV004017678 RCV004017687 RCV000588726 RCV000586604 RCV000590029 RCV000587489 RCV000615628 RCV000607235 RCV004807078 RCV003999598 RCV000758693 RCV005357953 RCV002272347 RCV004807135 RCV000781736 RCV000781757 RCV004017743 RCV000825603 RCV004807268 RCV004017793 RCV004807465 RCV004010691 RCV004004899 RCV000076794 RCV000076795 RCV000076796 RCV000076804 RCV000076805 RCV000076817 RCV000076818 RCV000076822 RCV000076824 RCV000076826 RCV000076829 RCV000076830 RCV000076831 RCV000076835 RCV000076836 RCV000076838 RCV000076841 RCV000076843 RCV000076844 RCV000076846 RCV000076847 RCV000076848 RCV000076853 RCV000076856 RCV000076859 RCV000076861 RCV000076876 RCV000076878 RCV000076881 RCV000076882 RCV000076883 RCV000076885 RCV000076886 RCV000076888 RCV000076894 RCV000076895 RCV000076896 RCV000076901 RCV000076902 RCV000076905 RCV004004942
Lynch syndrome 1	Pathogenic; Likely pathogenic	rs587780064, rs141577476, rs869320619, rs63750871, rs121434629, rs2535753815, rs730881919, rs1562677687, rs63750250, rs201451115, rs587779333, rs267608161, rs267608153	RCV001804845 RCV001310205 RCV001804905 RCV001310204 RCV001804723 RCV003229515 RCV002305497 RCV000755030 RCV000144653 RCV005246635 RCV000144649 RCV000144654 RCV001804828
Lynch syndrome 4	Likely pathogenic; Pathogenic	rs2128658092, rs2128672286, rs2128746842, rs2128819251, rs771928911, rs1202370194, rs2128683310, rs786202202, rs267608172, rs6972869, rs1214597671, rs2128788145, rs2128846824, rs267608159, rs745487791, rs2128815756, rs2128671557, rs587782074, rs2128720948, rs1064795705, rs587780059, rs188006077, rs587780062, rs587780064, rs779064342, rs757110564, rs587778618, rs2128658792, rs2128672594, rs2128799910, rs2128721171, rs587782336, rs2128726933, rs1172837844, rs2128775109, rs756358866, rs63749862, rs2128830113, rs1554309086, rs587780054, rs1554309080, rs587781317, rs587781339, rs587781395, rs587781626, rs587781716, rs141577476, rs587782704, rs587779333, rs587782710, rs587782787, rs587779338, rs373885654, rs1554298087, rs2536444783, rs2535938248, rs2536319279, rs1785714291, rs2536434515, rs876660198, rs1233470165, rs587782789, rs2535825476, rs2536588880, rs2536155330, rs2536008648, rs762540878, rs573125799, rs2536222225, rs2128786265, rs1562664845, rs786201039, rs786201062, rs778531080, rs786203073, rs751261543, rs267608154, rs786201047, rs786203954, rs786202098, rs587779340, rs763308607, rs751153838, rs2535738640, rs186577215, rs1583316404, rs376142390, rs2535746483, rs2535748850, rs1562605623, rs2128684295, rs2535342363, rs764171734, rs2128721689, rs267608170, rs1562695294, rs1785414812, rs2536500457, rs2536500736, rs869320619, rs2535768807, rs863224498, rs863224496, rs863224450, rs863224676, rs1182043656, rs1196530552, rs3209663, rs759151952, rs876661113, rs876661203, rs766389591, rs760228510, rs763939668, rs876659480, rs876659900, rs876660459, rs587782898, rs876658964, rs876659736, rs878854060, rs878854059, rs267608153, rs2128829880, rs63750871, rs63751466, rs63750049, rs63750451, rs1057515571, rs1057515572, rs121434629, rs2536219337, rs2535709534, rs886039646, rs886039615, rs2536493517, rs758304323, rs2535772329, rs267608158, rs2535736045, rs2536224387, rs1784309424, rs761134229, rs2535188407, rs2536580654, rs2535394998, rs2536497774, rs1583403114, rs1783008091, rs2535818146, rs2535794447, rs2536006365, rs2128704364, rs267608174, rs2128658183, rs2535555922, rs2536320697, rs2536214833, rs2536215101, rs754573279, rs1784808623, rs2535726610, rs2535203991, rs759692592, rs2128674468, rs2535744456, rs587780053, rs1781845988, rs2535551655, rs2535333011, rs2535806229, rs1199497563, rs2128737155, rs2128801488, rs2535310311, rs2535830326, rs2536450599, rs753030033, rs2536581397, rs2535719139, rs2535783534, rs1057520347, rs2535529410, rs786203427, rs1224505288, rs2535933115, rs2535724230, rs2128736116, rs2535548134, rs2535531711, rs2536223812, rs2535733260, rs2535320896, rs587780048, rs2535783217, rs2536220625, rs2536450385, rs2535825731, rs2536440492, rs2535720768, rs2535333500, rs2536436605, rs1554304696, rs2535831699, rs2536225095, rs2536455654, rs2536585374, rs2536219121, rs2536435681, rs2535183568, rs2535729030, rs2536500972, rs2535710122, rs2535315889, rs2535710282, rs2535820903, rs2535811461, rs1554297781, rs2536590213, rs2536501303, rs2535819055, rs2535775377, rs1394474494, rs587779324, rs2536156382, rs2535844060, rs2536011438, rs2536512347, rs2536499180, rs2535392017, rs2535332090, rs2536594780, rs1057517801, rs769742496, rs1057524433, rs587780724, rs111466480, rs1060503137, rs876659162, rs1060503148, rs1060503110, rs1060503138, rs1064796500, rs1064794566, rs1064795345, rs1064793234, rs757324104, rs1064794905, rs1064795447, rs1064796190, rs1064793868, rs1554304940, rs1064794083, rs1064794152, rs988423880, rs1458321358, rs730881919, rs1554294393, rs1554297061, rs1554295967, rs1554297040, rs1554297523, rs1554293920, rs1554301486, rs1554304974, rs1231406078, rs1554297488, rs1554297534, rs1064794577, rs1554298082, rs876661256, rs1554298056, rs1554293810, rs1554304979, rs1554297058, rs1554298067, rs1554306288, rs1554303861, rs116373169, rs1554300689, rs1554297877, rs1554306528, rs1437858319, rs730881914, rs1554297125, rs753256070, rs1554297962, rs1554294448, rs1554298786, rs1554293975, rs1554297153, rs1554297164, rs1554297342, rs1554297636, rs1461669945, rs1554306605, rs1554294019, rs1554304745, rs1554298756, rs781078805, rs1562632035, rs1562635799, rs1562669585, rs1562616355, rs1562604682, rs1562678257, rs1261282733, rs1562626070, rs1562690527, rs1562671039, rs1562626121, rs1562636427, rs1562651617, rs1562689635, rs1583285552, rs1583320992, rs757679199, rs1583375182, rs36038802, rs1583374709, rs756653193, rs1583375132, rs1583363851, rs1583269216, rs1583321194, rs1583334346, rs1583418616, rs767028531, rs1325835006, rs267608147, rs1782934080, rs1782958183, rs1064793426, rs63750456, rs1783004175, rs1783147885, rs1783516106, rs1344095646, rs1784299649, rs1784536095, rs1784802468, rs1221485925, rs1307026290, rs1782994894, rs1783098862, rs267608149, rs758250810, rs1785187053, rs1785429855, rs1785715961, rs1785723689, rs1784783734, rs1785199575, rs1782465728, rs1782935566, rs1783042060, rs1783529876, rs1785372371, rs956005905, rs1785207289, rs267608156, rs587779326, rs587778617, rs587779330, rs267608169, rs63750793, rs63750250, rs63750490, rs63751422, rs201451115, rs267608161, rs63750695, rs267608173, rs267608160, rs1554306445, rs63751029, rs587779343, rs63750261, rs267608150, rs267608151, rs63750246, rs200640585, rs143277125, rs587779347, rs1785419483	RCV003450000 RCV003469593 RCV003450001 RCV003449996 RCV003450045 RCV005621095 RCV004793473 RCV003450052 RCV003450073 RCV003450075 RCV003450080 RCV003450074 RCV003450055 RCV003451792 RCV004789655 RCV001533148 RCV003451809 RCV003470864 RCV003451939 RCV003451950 RCV000662846 RCV003467056 RCV000709755 RCV001258088 RCV003453954 RCV003453948 RCV002288610 RCV003452078 RCV003452079 RCV003453835 RCV003452124 RCV002467458 RCV003451984 RCV003453843 RCV003452144 RCV003453882 RCV003451982 RCV003453818 RCV003452184 RCV003452185 RCV003453883 RCV003453059 RCV000576592 RCV003453061 RCV003453066 RCV003453071 RCV003453076 RCV003453081 RCV002467441 RCV000709753 RCV003453093 RCV003453094 RCV002279947 RCV003454051 RCV003453108 RCV003464455 RCV003454153 RCV003454165 RCV003454176 RCV003454163 RCV003454164 RCV000500749 RCV003464469 RCV004591917 RCV003454169 RCV003454205 RCV003454206 RCV003454212 RCV003454231 RCV004793795 RCV004785625 RCV005421283 RCV003454192 RCV003454198 RCV003454199 RCV003454209 RCV003464490 RCV003454210 RCV003454389 RCV003454392 RCV003454403 RCV003454412 RCV003454257 RCV003454395 RCV001262168 RCV005042322 RCV003333740 RCV003454400 RCV000515494 RCV000576564 RCV003454270 RCV003454281 RCV003454235 RCV003454279 RCV003464523 RCV003454276 RCV005869823 RCV003454329 RCV003454330 RCV003454331 RCV003455459 RCV005421377 RCV003454299 RCV003454315 RCV002467462 RCV003455463 RCV003455492 RCV003455488 RCV003454446 RCV003455540 RCV003454501 RCV003454500 RCV003454499 RCV002485315 RCV000663087 RCV003459698 RCV003455663 RCV003454541 RCV003454555 RCV002288907 RCV004020709 RCV002503875 RCV003454666 RCV003454674 RCV003454638 RCV003454641 RCV004791347 RCV003454653 RCV003454630 RCV000763588 RCV000709752 RCV003454656 RCV003454637 RCV003454706 RCV003454705 RCV004791356 RCV003454707 RCV003454708 RCV003455765 RCV000576870 RCV000409056 RCV000009821 RCV000009823 RCV000009824 RCV000678287 RCV000056324 RCV005047447 RCV003455772 RCV004567811 RCV003454781 RCV003455789 RCV003316952 RCV003316987 RCV003335669 RCV003335738 RCV004790542 RCV003463312 RCV003471707 RCV003452423 RCV003471708 RCV003471711 RCV003463324 RCV003472466 RCV003472468 RCV003450507 RCV003450525 RCV003450545 RCV003450581 RCV003452222 RCV003452385 RCV003452388 RCV003452389 RCV003452390 RCV003452392 RCV003452394 RCV003452395 RCV003452396 RCV003452398 RCV003452399 RCV003452400 RCV003452402 RCV003452404 RCV003452406 RCV003452407 RCV003452408 RCV003452409 RCV003452410 RCV003452411 RCV003452412 RCV003452413 RCV003452414 RCV003452416 RCV003452418 RCV003452419 RCV003452420 RCV003452422 RCV003452424 RCV003452425 RCV003452426 RCV003452428 RCV003452429 RCV003452430 RCV003452431 RCV003452432 RCV003452433 RCV003452434 RCV003452435 RCV003452436 RCV003452438 RCV003452439 RCV003452440 RCV003452441 RCV003452442 RCV003452443 RCV003452444 RCV003452445 RCV003452446 RCV003452447 RCV003452448 RCV003452449 RCV003452450 RCV003452451 RCV003452452 RCV003452453 RCV003452454 RCV003452455 RCV003452456 RCV003452457 RCV003452459 RCV003452460 RCV003452461 RCV003452462 RCV003452463 RCV003452464 RCV003452465 RCV003452466 RCV003452467 RCV003452468 RCV003452469 RCV003452470 RCV003452471 RCV003452473 RCV005621259 RCV005871263 RCV004440117 RCV004442584 RCV004442620 RCV004574581 RCV004574582 RCV004574583 RCV004584151 RCV004589216 RCV004589364 RCV003449033 RCV003449032 RCV003449097 RCV003449099 RCV003449154 RCV003449156 RCV000663281 RCV003449159 RCV003449158 RCV003449153 RCV003449157 RCV003449244 RCV003449208 RCV003449219 RCV003449169 RCV003449212 RCV003147481 RCV003139680 RCV003449240 RCV003449191 RCV003449209 RCV002466515 RCV003449226 RCV003449200 RCV003449416 RCV000662813 RCV000662778 RCV003449478 RCV003449484 RCV003449491 RCV003449543 RCV003139749 RCV003449545 RCV003449547 RCV003449544 RCV003449548 RCV003449549 RCV003449546 RCV003451230 RCV003451263 RCV003451231 RCV003451290 RCV003451226 RCV000984324 RCV003451228 RCV003459367 RCV003451262 RCV003451288 RCV003451229 RCV003465282 RCV003451289 RCV003451227 RCV003451261 RCV003459366 RCV003451235 RCV003451236 RCV003451312 RCV003451310 RCV004787998 RCV003451309 RCV003451311 RCV003451333 RCV003451332 RCV005869650 RCV003451374 RCV003451360 RCV003451495 RCV002272310 RCV003451496 RCV003451615 RCV003451613 RCV003451612 RCV003451606 RCV005870736 RCV003316781 RCV003451597 RCV000662649 RCV000663233 RCV005231258 RCV003485629 RCV003453507 RCV003453435 RCV003453455 RCV003453447 RCV003453480 RCV003453508 RCV003453438 RCV003453491 RCV003453458 RCV003453466 RCV000709756 RCV003453564 RCV003453565 RCV003453563 RCV003453566 RCV003453596 RCV004027247 RCV003472291 RCV003461041 RCV003453608 RCV003453692 RCV003473509 RCV003453647 RCV003453706 RCV003453711 RCV003453733 RCV004588301 RCV001542761 RCV003454995 RCV000987822 RCV000987841 RCV005394630 RCV005871116 RCV003455097 RCV003455106 RCV005359749 RCV003455132 RCV003455081 RCV003455098 RCV003455134 RCV003455186 RCV003455236 RCV003455284 RCV003446602 RCV003467752 RCV003455217 RCV003455151 RCV003455283 RCV003455156 RCV003455150 RCV003455299 RCV003455262 RCV003455235 RCV003455250 RCV003449615 RCV003469295 RCV003449600 RCV003449623 RCV003449607 RCV004590162 RCV003316829 RCV003449605 RCV003449589 RCV002497660 RCV003449684 RCV005245790 RCV003449670 RCV003449656 RCV003449666 RCV003449665 RCV002290643 RCV003449715 RCV003449728 RCV002499394 RCV003449767 RCV001258073 RCV002288574 RCV003452983 RCV000009822 RCV000009820 RCV000786880 RCV003452984 RCV003452985 RCV003452986 RCV003452987 RCV000851295 RCV001258087 RCV003452988 RCV000709754 RCV000410400 RCV003452989 RCV005394330 RCV000409361 RCV000662653 RCV000409351 RCV003452991 RCV003452992 RCV000764719 RCV003452994 RCV001799617 RCV002288576 RCV003452995 RCV000009829 RCV003452996 RCV003452997 RCV000663080 RCV000411556 RCV000778110 RCV000576503 RCV005394331 RCV003466969 RCV003449837 RCV003449835
Lynch-like syndrome	Pathogenic; Likely pathogenic	rs587781716, rs267608149	RCV001249994 RCV001249993
Malignant lymphoma, large B-cell, diffuse	Pathogenic	rs587779329	RCV003449011
Malignant tumor of breast	Pathogenic; Likely pathogenic	rs2128671526, rs2128672286, rs2128746806, rs876661113, rs757679199, rs200640585	RCV001355118 RCV001357092 RCV001358101 RCV001354824 RCV001356129 RCV001354630
Mismatch repair cancer syndrome 1	Pathogenic; Likely pathogenic	rs587780062, rs141577476, rs587780059, rs587779340, rs1785410333, rs876659736, rs63750871, rs63751466, rs121434629, rs886039646, rs587780724, rs1554298082, rs1554298056, rs763308607, rs1562636427, rs1583419860, rs63750250, rs63751422, rs587779333, rs63750695, rs587779338, rs267608148, rs267608150, rs267608154, rs267608153, rs200640585	RCV000763589 RCV001197302 RCV000763593 RCV000763591 RCV005356129 RCV000763588 RCV001196700 RCV000009818 RCV000009826 RCV000722118 RCV000985175 RCV000587567 RCV005367423 RCV005367422 RCV005358000 RCV001253267 RCV001254932 RCV000148733 RCV001293980 RCV001535560 RCV000764719 RCV005357501 RCV000763590 RCV001028064 RCV005862971 RCV000763587
Mismatch repair cancer syndrome 4	Likely pathogenic; Pathogenic	rs188006077, rs587780062, rs587778618, rs587781339, rs587781395, rs587781626, rs587781716, rs587782074, rs373885654, rs786201047, rs573125799, rs186577215, rs869320619, rs587780064, rs267608159, rs863224450, rs876661113, rs766389591, rs760228510, rs63750871, rs587776715, rs63751466, rs1057515572, rs121434629, rs121434630, rs2536219337, rs878854040, rs2535710122, rs758304323, rs1064794566, rs1064793868, rs988423880, rs1554297488, rs1562626070, rs1562671039, rs757679199, rs1583269216, rs758250810, rs761134229, rs267608156, rs587778617, rs63750106, rs63750793, rs63750250, rs201451115, rs587779333, rs267608161, rs267608172, rs63750695, rs267608173, rs267608160, rs587779343, rs267608154, rs200640585, rs143277125, rs587779347	RCV005394388 RCV005042216 RCV002483226 RCV002492494 RCV005359201 RCV005042250 RCV005359219 RCV005042257 RCV005359315 RCV005365055 RCV005042322 RCV005042820 RCV000172908 RCV005356163 RCV004820838 RCV002485315 RCV002494606 RCV002503875 RCV003315238 RCV000009815 RCV000009816 RCV001267876 RCV000009825 RCV001267878 RCV000009830 RCV005047447 RCV003315491 RCV005356442 RCV005230407 RCV005034017 RCV002506164 RCV001523839 RCV003315438 RCV002290006 RCV005411555 RCV005359534 RCV005394630 RCV003388604 RCV002497660 RCV002499394 RCV005357498 RCV005042190 RCV004576920 RCV000009828 RCV006253779 RCV002288575 RCV001523838 RCV005394330 RCV005031560 RCV003992178 RCV002498371 RCV000009817 RCV005357502 RCV002483127 RCV005042191 RCV005394331 RCV001523837
Neoplasm	Pathogenic	rs267608159	RCV005232393
Ovarian cancer	Likely pathogenic	rs1562605623	RCV005931559
Pituitary carcinoma	Likely pathogenic	rs121434629	RCV000722017
PMS2-related cancer disorders	Likely pathogenic	rs121434629	RCV003335023
PMS2-related disorder	Likely pathogenic; Pathogenic	rs188006077, rs587778618, rs756358866, rs587781317, rs587782704, rs587782787, rs587780059, rs786203073, rs573125799, rs587779340, rs267608159, rs863224450, rs63751466, rs121434629, rs1064793234, rs1064796190, rs1562669585, rs1562604682, rs1782465728, rs587779333, rs267608161, rs267608172, rs63751029, rs267608150, rs267608154, rs63750246	RCV004742259 RCV004742269 RCV004744180 RCV004742273 RCV004742275 RCV003894999 RCV003407599 RCV004742295 RCV003407601 RCV004742289 RCV004742327 RCV004725052 RCV003415681 RCV003390667 RCV004742444 RCV004698838 RCV004723104 RCV003420251 RCV003398939 RCV003982873 RCV004742243 RCV004742244 RCV004797779 RCV003915043 RCV003430659 RCV003415836
Polyp of colon	Likely pathogenic; Pathogenic	rs587779340	RCV000735964
Rhabdomyosarcoma	Pathogenic	rs63751466	RCV001257544

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Likely benign; Benign	rs63750668, rs12534423	RCV005888929 RCV005897253
Breast neoplasm	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs779625900, rs778531080, rs371342884, rs775355718	RCV001262425 RCV001262174 RCV001262172 RCV001262424
Cancer or benign tumor	Conflicting classifications of pathogenicity	rs587780046	RCV005625292
Cervical cancer	Conflicting classifications of pathogenicity	rs146176004	RCV005888937
Cholangiocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs60794673, rs1229860023, rs12534423	RCV005868092 RCV005898580 RCV005897256
Clear cell carcinoma of kidney	Likely benign; Conflicting classifications of pathogenicity	rs63750668, rs201395630	RCV005888931 RCV005888936
Constitutional mismatch repair deficiency syndrome	Conflicting classifications of pathogenicity	rs751973268	RCV005865442
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Conflicting classifications of pathogenicity	rs1554292741	RCV003315255
Familial prostate cancer	Uncertain significance	rs63751284	RCV005886126
Hepatocellular carcinoma	Benign; Likely benign	rs1781995910	RCV005866765
Hereditary nonpolyposis colorectal carcinoma	Uncertain significance	rs1781510137	RCV002272424
Inherited polyposis and early onset colorectal cancer - germline testing	Conflicting classifications of pathogenicity	rs540287433, rs587779337	RCV005055069 RCV006277704
Lynch syndrome 5	Conflicting classifications of pathogenicity	rs63751300	RCV003338434
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs142434011, rs370853512, rs1229860023, rs63750668	RCV005888580 RCV005898526 RCV005898578 RCV005888930
Melanoma	Likely benign	rs63750668	RCV005888934
Ovarian neoplasm	Benign; Likely benign	rs60794673, rs1805324, rs141458772	RCV001262162 RCV001262164 RCV001262171
Papillary renal cell carcinoma type 1	Uncertain significance	rs2128843656	RCV005927109
Sarcoma	Likely benign; Benign	rs63750668, rs12534423	RCV005888932 RCV005897254
Thymoma	Conflicting classifications of pathogenicity; Likely benign; Benign	rs1229860023, rs63750668, rs12534423	RCV005898579 RCV005888933 RCV005897255
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs762151417	RCV005889608
Uterine corpus endometrial carcinoma	Benign	rs12534423	RCV005897257

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	19283792, 23648460, 29972732, 37864137
Adenocarcinoma Mucinous	Associate	30173239, 32826709
Adenocarcinoma of Lung	Associate	34642306
Adenoma	Associate	24925148
Adenoma	Inhibit	29976631
Adenomatous Polyposis Coli	Associate	22510757, 24310308, 30324682, 39519399
Adenomatous Polyps	Associate	28381238
Alopecia Areata	Associate	23326468
Anophthalmia with pulmonary hypoplasia	Associate	37200008
Appendiceal Neoplasms	Associate	23648460
Astrocytoma	Associate	17993636
Azoospermia	Associate	22594646
Barrett Esophagus	Associate	29972732
Biliary Tract Neoplasms	Associate	29238914, 32012241
Brain Diseases	Associate	28466842
Brain Neoplasms	Associate	35638754
Brain Neoplasms	Stimulate	39910726
Breast Neoplasms	Associate	22331944, 23164213, 26976419, 28514183, 29345684, 33503040, 33560870, 34667028, 34866136, 36232793, 36674914, 37628631, 37861889
Carcinogenesis	Associate	19181186, 24518125, 28347324
Carcinoma Adenosquamous	Associate	30173239
Carcinoma Endometrioid	Associate	32060377
Carcinoma Hepatocellular	Associate	24400091, 34250406
Carcinoma Medullary	Associate	24437456
Carcinoma Ovarian Epithelial	Inhibit	26423401
Carcinoma Pancreatic Ductal	Associate	26226846, 28726808, 32113160, 36453157
Carcinoma Renal Cell	Associate	26537074
Central Nervous System Neoplasms	Associate	37076313
Colonic Neoplasms	Inhibit	20689513, 29976631
Colonic Neoplasms	Associate	23582141, 23958088, 24518125, 28819720, 30387329, 33535600, 35638754
Colonic Neoplasms	Stimulate	24484585
Colorectal Neoplasms	Associate	10544224, 15077197, 17117178, 17962726, 17993636, 19690142, 19723918, 19752738, 19930554, 20167975, 20655395, 21034533, 21499234, 21559014, 21911971, 22331944, 22577899, 22585707, 22918162, 22933731, 22949387, 23288611, 24643686, 24815484, 24829445, 24968821, 25479140, 25663779, 26097592, 26109217, 26110232, 26657901, 26895986, 26900293, 27017610, 27152634, 27589204, 27696107, 27770786, 27799157, 27978560, 28445943, 28451866, 28485341, 28514183, 28651545, 28933000, 29147930, 29237405, 29336605, 29505855, 29967336, 30161022, 30256826, 30324682, 30613919, 30723297, 31127692, 31204389, 31530839, 31792356, 32051040, 32102509, 32541478, 32634176, 32664968, 32826709, 32914570, 33077534, 33631043, 33817713, 34247610, 34302852, 34607897, 34998373, 35074970, 35346574, 36291559, 36593122, 36746394, 36872334, 37022939, 37262391, 38284451, 38297350
Colorectal Neoplasms	Inhibit	20689513, 33636974
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	10101297, 15731775, 15872200, 16873062, 18178629, 18556776, 18602922, 19672700, 19690142, 19723918, 20473912, 20533529, 20655395, 20698049, 21034533, 21145788, 21227399, 21769135, 21791569, 22355048, 22577899, 22581703, 22585707, 22949387, 23354017, 23408351, 24027009, 24084575, 24310308, 24362816, 24518125, 24743384, 24829445, 24933100, 25133505, 25194673, 25910169, 25987035, 26109217, 26110232, 26320870, 26437257, 26657901, 27152634, 27363726, 27443514, 27601186, 27938333, 27978560, 28466842, 28489507, 28494185, 28514183, 28668538, 28933000, 29088233, 29146522, 29147930, 29288294, 29336605, 29345684, 29505604, 29568967, 29575718, 29587389, 29723603, 30161022, 30268105, 30324682, 30376427, 30543514, 30614234, 30653781, 30877237, 30946512, 31160353, 31297992, 31337882, 31647837, 31855955, 31932681, 32007537, 32090079, 32197529, 32571878, 32606442, 32611331, 32634176, 32857459, 32885271, 33033905, 33077534, 33082239, 33369189, 33393477, 33983630, 34140662, 34172528, 34285288, 34302852, 34326811, 34499134, 34678156, 34866136, 35172941, 35346574, 35451539, 35809086, 36421850, 36518767, 36548287, 36593122, 36674914, 36691871, 36833239, 37076313, 37289003, 37798659, 37861889, 37940339, 38030917, 38191122, 38297350, 38433331, 39320958, 8586419, 8880570, 9709044
Colorectal Neoplasms Hereditary Nonpolyposis	Inhibit	21911971, 26848797, 32102509
Common Variable Immunodeficiency	Associate	30723478
Death	Associate	29336605
Diabetes Mellitus	Inhibit	36453157
DNA Repair Deficiency Disorders	Associate	27131875
Duodenal Neoplasms	Associate	19283792
Dyslipidemias	Inhibit	36453157
Dystonia 3 Torsion X Linked	Associate	34050153, 35481544
Endometrial Neoplasms	Associate	18602922, 22331944, 23385444, 24084575, 24323032, 25229768, 25400828, 26110232, 27017610, 28946809, 30161022, 30443012, 31554352, 31860975, 32060377, 32634176, 33662372, 34117277, 34431253, 35346574, 35775705, 36482191, 37679002, 37730563, 38191122, 38297350, 38433331
Endometrial Neoplasms	Inhibit	26848797, 36142641
Esophageal Squamous Cell Carcinoma	Associate	37009661
Fibrocystic Breast Disease	Associate	33382535
Gallbladder Neoplasms	Associate	31068195
Gastrointestinal Neoplasms	Associate	39910726
Glioblastoma	Associate	24259277, 28912153, 34848827
Glioma	Associate	36414603
Glucosephosphate Dehydrogenase Deficiency	Associate	34431253, 38297350
Granulosa Cell Tumor	Associate	28347324
Hamartoma	Associate	32390703
Hereditary Breast and Ovarian Cancer Syndrome	Associate	24549055, 26976419, 28514183, 30128536, 30306255, 31650731, 33326660, 36232793, 37861889
Hereditary pancreatitis	Associate	32113160
HIV Infections	Associate	40634688
Huntington Disease	Associate	27044000, 32898862, 34050153
Hypoxia	Associate	25026297
Infertility	Associate	18706547
Infertility Male	Associate	18706547, 22594646
Inflammatory Breast Neoplasms	Associate	32075053
Intellectual Disability	Associate	17993636
Intestinal Neoplasms	Associate	19181186
Kidney Neoplasms	Associate	22331944, 23385444, 28787086
Lupus Nephritis	Associate	24386384
Lymphoma Large B Cell Diffuse	Associate	38199780, 40634688
Lymphoma Non Hodgkin	Associate	34308104
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Inhibit	20075417
Medulloblastoma	Associate	19283792, 23582141
Meningioma	Associate	36975468
Microsatellite Instability	Associate	17962726, 20516444, 20655395, 21081928, 23011871, 23246972, 30121009, 31068195, 31292272, 31530839, 31857677, 32144630, 32221012, 33817713, 34761625, 35074970, 35346574, 35900537, 37022939, 37098015, 39623302
Muir Torre Syndrome	Associate	25197397
Muscle Neoplasms	Associate	19692168
Nasopharyngeal Carcinoma	Associate	32546739
Neoplasm Invasiveness	Associate	33302424
Neoplasm Metastasis	Associate	24072219
Neoplasms	Associate	15077197, 15872200, 17993636, 18178629, 18602922, 18781192, 18951449, 19181186, 19672700, 19692168, 20516444, 20655395, 20924129, 21356188, 21769135, 21911971, 22295155, 22581703, 22585707, 22714864, 22918162, 24323032, 24565683, 25194673, 25400828, 25537509, 26320870, 26580448, 26657901, 26831751, 27017610, 27329736, 27443514, 28241187, 28381238, 28485341, 28640387, 29053726, 29137657, 29336605, 29723603, 29750335, 29955148, 30161022, 30613919, 30665466, 30723478, 30850667, 30946512, 31056861, 31160353, 31292272, 31554352, 31616036, 31783044, 31792356, 31860975, 32012241, 32060377, 32144630, 32197529, 32634176, 32658872, 32664968, 32826709, 32857459, 33162477, 33199489, 33302424, 33326660, 33503040, 33574476, 33662372, 33817713, 34172528, 34250406, 34285288, 34302852, 34308104, 34397043, 34678156, 35197584, 35230882, 35346574, 35451539, 35544035, 36011273, 36291559, 36674914, 36736685, 36818471, 36833239, 37021926, 37200008, 38105176, 39776912, 39832331, 39910726, 40076915, 40634688
Neoplasms	Stimulate	19124481
Neoplasms	Inhibit	20689513, 24400091, 28754778, 33636974
Neoplastic Syndromes Hereditary	Associate	32090079, 36261688, 36674914, 36916756
Neuroectodermal Tumors	Associate	15077197
Neuroendocrine Tumors	Associate	35417733
Neurologic Manifestations	Associate	34247610
Nevus	Associate	24926095, 39910726
Oligospermia	Associate	22594646
Ovarian Neoplasms	Associate	18723338, 22331944, 26718727, 28381238, 29063235, 29889250, 31056861, 33560870, 37940339
Pancreatic Neoplasms	Associate	21212431, 21681824, 22331944, 25479140, 27449771, 32113160, 32658872, 35346574, 36896836
Peritoneal Neoplasms	Associate	20093870
Peutz Jeghers Syndrome	Associate	32390703
Pilomatrixoma	Associate	39910726
Polycythemia Vera	Associate	32606442, 37024097
Polyps	Associate	22510757
Pregnancy in Diabetics	Associate	37172903
Primary Immunodeficiency Diseases	Associate	30723478
Prostatic Neoplasms	Associate	19124481, 19723918, 26036629, 35666082, 36623239, 36922933, 37283096
Prostatic Neoplasms	Inhibit	32384491
Recombinant chromosome 8 syndrome	Associate	18824584
Rectal Neoplasms	Associate	22608206
Respiratory Tract Infections	Associate	36818471
Retinal Dysplasia	Associate	22510757, 29972732, 29976631
Sebaceous Gland Neoplasms	Associate	29718441
Sertoli Cell Only Syndrome	Associate	18706547
Skin Neoplasms	Associate	28420421
Soft Tissue Infections	Associate	37076313
Spinocerebellar Ataxias	Associate	27044000
Squamous Cell Carcinoma of Head and Neck	Associate	33501557
Stomach Diseases	Associate	32143126
Stomach Neoplasms	Associate	19181186, 22331944, 27527654, 28381238, 32143126, 33933102, 35255858
Stomach Neoplasms	Inhibit	26371427
Tarlov Cysts	Associate	33302424
Turcot syndrome	Associate	15077197, 19156169, 22692065, 23582141, 24815484, 26116798, 26619103, 26819409, 27017610, 27329736, 27476653, 28381238, 31068195, 31204389, 31616036, 32060377, 32664968, 32761330, 32773772, 32804882, 33033905, 33369189, 33535600, 34048176, 34111421, 34247610, 35346574, 35532657, 35638754, 36291559, 36360190, 36482191, 37262391, 37940339, 39910726, 40105034
Turcot syndrome	Stimulate	25229768, 34042092
Turcot syndrome	Inhibit	32197529, 32664968, 34545179, 36414603, 37679002, 37699372
Ureteral Neoplasms	Associate	36818471
Urethral Neoplasms	Associate	34801034
Urinary Bladder Neoplasms	Associate	11506498, 19692168, 22331944, 32221012, 36818471, 36818940
Urologic Neoplasms	Associate	37798659
Uterine Cervical Neoplasms	Associate	20178594, 32975231
Waardenburg syndrome type 4	Associate	32546739
Wilms Tumor	Associate	35230882
X Linked Combined Immunodeficiency Diseases	Associate	28668538