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

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Breast Cancer	Malignant tumor of breast	rs876661113, rs757679199, rs200640585	N/A
Colorectal Neoplasms	hereditary nonpolyposis colorectal neoplasms	rs3209663, rs1562644987, rs587779343, rs1583410315, rs573125799, rs1583285552, rs1554297523, rs1583375182, rs1057524433, rs876661256, rs1562678257, rs1554297636, rs1782947222, rs763308607, rs1064793234, rs1064794566, rs587779336, rs587782710, rs1583316404, rs1562626011, rs1554309086, rs745487791, rs63750246, rs1554293991, rs587779338, rs764171734, rs1064794173, rs63750871, rs1554297285, rs201451115, rs1060503110, rs587781716, rs1554300689, rs587779330, rs1562633172, rs1461669945, rs267608149, rs1782958183, rs1784806713, rs778531080, rs587780724, rs876660459, rs1783516106, rs143277125, rs1554297488, rs1064794152, rs1554298786, rs767028531, rs786203954, rs1583299686, rs587778617, rs886039646, rs762387250, rs587780062, rs1554298056, rs760228510, rs1458321358, rs63750049, rs267608161, rs757324104, rs267608159, rs587782602, rs1554304940, rs587782787, rs1221485925, rs1554294448, rs1583363851, rs63750250, rs1554297058, rs1562605623, rs267608153, rs759151952, rs1562711587, rs63750261, rs1060503138, rs1554297877, rs1583318494, rs1554293920, rs36038802, rs1060503142, rs1261282733, rs1782962828, rs786204104, rs587782704, rs267608173, rs1562634737, rs1554297082, rs1583269216, rs786203073, rs764342199, rs587781317, rs876658862, rs1562636427, rs1554298087, rs267608156, rs1344095646, rs587779347, rs1554297534, rs1562598658, rs1554293975, rs1325835006, rs786202098, rs587782074, rs1583320992, rs1554301486, rs1554297125, rs886039615, rs267608169, rs111466480, rs267608151, rs1064793426, rs869320619, rs1064794905, rs863224450, rs1562635799, rs1307026290, rs1554297564, rs1583285344, rs876659162, rs587781339, rs1554298067, rs587782898, rs1562614946, rs876661113, rs1562604682, rs1554292880, rs878854037, rs1554293810, rs730881919, rs63750451, rs267608160, rs1064794083, rs1394474494, rs1583319050, rs63750490, rs1554295967, rs781078805, rs587780059, rs1064794577, rs587776715, rs267608147, rs878854060, rs1243063129, rs1784299649, rs1057517801, rs1583374709, rs763939668, rs1562626070, rs1554304745, rs267608154, rs63750456, rs267608172, rs1064795447, rs863224676, rs1562669585, rs63751029, rs1583334346, rs63751228, rs1554306288, rs1554297040, rs587779326, rs200640585, rs1554304974, rs121434629, rs1562664845, rs1554297164, rs587779333, rs1064796500, rs587782336, rs757679199, rs753256070, rs373885654, rs63750477, rs1060503137, rs587780064, rs939641251, rs863224498, rs1554293959, rs786201047, rs1554300763, rs876658964, rs1562626204, rs1231406078, rs1554297764, rs876661203, rs988423880, rs1437858319, rs878854059, rs1064796190, rs1784536095, rs786201039, rs876659480, rs1783004175, rs63750695, rs1554306445, rs1562616355, rs1064795705, rs587782175, rs267608148, rs1562651617, rs63751422, rs730881920, rs587781395, rs1554298741, rs1562629003, rs769742496, rs63751466, rs1554297342, rs1782934080, rs587779340, rs1554297962, rs63750793, rs746766787, rs587778618, rs1562671039, rs1554298756, rs863224497, rs1562632035, rs864622600, rs1060503148, rs587781626, rs876659736, rs1554294393, rs188006077, rs1554298082, rs766389591, rs587779344, rs267608170, rs141577476, rs1064793868, rs1784802468, rs786201062, rs758304323, rs1554304979, rs876659900, rs1783147885, rs863224496	N/A
Endometrial carcinoma	endometrial carcinoma	rs1554306353, rs121434629, rs587778617, rs587782704, rs1554294505, rs988423880, rs587779333	N/A
hereditary cancer	Hereditary cancer	rs587782704	N/A
Lynch syndrome	Lynch syndrome 4, Lynch syndrome 1	rs1562632035, rs1554300689, rs1060503148, rs587781626, rs116373169, rs876659736, rs267608159, rs188006077, rs766389591, rs63750049, rs141577476, rs1064793868, rs1784802468, rs786201062, rs758304323, rs1554304979, rs876659900, rs1783147885, rs143277125, rs3209663, rs587779343, rs1583418616, rs573125799, rs1583285552, rs1554297523, rs267608153, rs1583375182, rs1057524433, rs876661256, rs267608161, rs1064793234, rs1064794566, rs587782710, rs1554294448, rs1583363851, rs63750250, rs1562626121, rs1554309086, rs121434629, rs745487791, rs863224496, rs764171734, rs63750871, rs201451115, rs1060503110, rs1554293920, rs587779330, rs587780724, rs1461669945, rs267608149, rs1782958183, rs267608173, rs587779338, rs778531080, rs587781317, rs876660459, rs1554298087, rs1783516106, rs1554297488, rs1064794152, rs1554298786, rs767028531, rs786203954, rs587781716, rs886039646, rs587780062, rs1554298056, rs1458321358, rs63750451, rs1554306605, rs267608151, rs757324104, rs1554304940, rs587782787, rs1221485925, rs1554297058, rs1562605623, rs587778617, rs759151952, rs63750261, rs1060503138, rs36038802, rs1261282733, rs1554294019, rs1562636427, rs1554295967, rs267608156, rs1554301486, rs587779347, rs1554297534, rs1554293975, rs1325835006, rs786202098, rs587779333, rs587782074, rs1554297877, rs1583320992, rs1344095646, rs1554297125, rs886039615, rs267608169, rs111466480, rs587780064, rs760228510, rs1562677687, rs1554304745, rs1064793426, rs869320619, rs267608172, rs1064794905, rs863224450, rs1562635799, rs1307026290, rs63751029, rs786203073, rs876659162, rs587781339, rs1554298067, rs587782898, rs1554304974, rs876661113, rs1562604682, rs1554297153, rs267608147, rs1064796500, rs1554306528, rs587782704, rs373885654, rs1554293810, rs730881919, rs1057515571, rs267608160, rs1064794083, rs1394474494, rs63750490, rs1562651617, rs781078805, rs587780059, rs1064794577, rs1437858319, rs878854060, rs1784299649, rs1583374709, rs763939668, rs1562626070, rs1057515572, rs267608154, rs63750456, rs1064795447, rs863224676, rs1562669585, rs1583334346, rs587781395, rs1554306288, rs1562689635, rs1554297040, rs587779326, rs200640585, rs1057517801, rs63751466, rs1554297164, rs587779340, rs587782336, rs756653193, rs1060503137, rs1562690527, rs863224498, rs786201047, rs1554303861, rs876658964, rs267608158, rs757679199, rs1231406078, rs1554298082, rs876661203, rs1562664845, rs988423880, rs267608170, rs730881914, rs878854059, rs1064796190, rs1784536095, rs1583375132, rs786201039, rs876659480, rs1554294393, rs1783004175, rs63750695, rs1554306445, rs1562616355, rs1064795705, rs63751422, rs769742496, rs1562678257, rs1554297342, rs1782934080, rs763308607, rs1064795345, rs1554297962, rs1583316404, rs63750793, rs587778618, rs1562671039, rs1554297061, rs1554298756, rs63750246	N/A
Lynch Syndrome	lynch syndrome, Lynch-like syndrome	rs143277125, rs1231406078, rs587779338, rs1064795705, rs63750871, rs201451115, rs267608153, rs587779330, rs267608149, rs267608161, rs1554294448, rs63750250, rs587778618, rs863224496, rs1562632035, rs587778617, rs188006077, rs766389591, rs1554308880, rs63750049, rs763308607, rs267608173, rs1064793868, rs758304323, rs1554304979, rs759151952, rs63750261, rs587781716, rs876659736, rs1554301495, rs1562633172, rs786204104, rs863224498, rs267608156, rs587779347, rs1554297125, rs267608169, rs760228510, rs267608159, rs587779340, rs1554292880, rs587779333, rs1554297877, rs587780062, rs1554298056, rs1458321358, rs63750451, rs267608172, rs587782704, rs267608160, rs1554304940, rs63751029, rs786203073, rs63750490, rs63750106, rs587776715, rs267608147, rs1064796500, rs1583374709, rs373885654, rs267608154, rs1562636427, rs587779326, rs200640585, rs786202098, rs587782074, rs753256070, rs63750477, rs111466480, rs876659162, rs587781395, rs876658964, rs876661113, rs63751466, rs63750695, rs1554306445, rs1064794083, rs267608148, rs63751422, rs1562664845, rs267608150, rs267608170, rs1554297962, rs63750793, rs587780064, rs939641251, rs121434629, rs1554298756, rs863224676, rs1562633331, rs587779329, rs587780059, rs587779344, rs141577476, rs63750246, rs587779343, rs573125799, rs1554303861, rs1562634268, rs267608158, rs757679199, rs587779324, rs988423880, rs1064794566, rs587779336	N/A
colon cancer	Colon cancer	rs1554298756	N/A
gastric cancer	Gastric cancer	rs876659736, rs758304323, rs63750871, rs760228510, rs587780059, rs730881919, rs267608154, rs200640585	N/A
Rhabdomyosarcoma	rhabdomyosarcoma	rs63751466	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Breast Carcinoma	hereditary breast carcinoma	N/A	N/A	GenCC
ovarian cancer	Ovarian cancer	N/A	N/A	ClinVar
Ovarian cancer	ovarian cancer	N/A	N/A	GenCC
Pancreatic Neoplasm	malignant pancreatic neoplasm	N/A	N/A	GenCC
Prostate cancer	prostate cancer	N/A	N/A	GenCC

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