MLH1 (mutL homolog 1)

Gene

• Entrez ID: 4292
• Gene name: MutL homolog 1
• Gene symbol: MLH1
• Synonyms (NCBI Gene): COCA2, FCC2, HNPCC, HNPCC2, LYNCH2, MLH-1, MMRCS1, hMLH1
• Chromosome: 3
• Chromosome location: 3p22.2
• Summary: The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introd

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2020873	C>T	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs11541859	G>T	Pathogenic	Stop gained, intron variant, 5 prime UTR variant, coding sequence variant
rs28930073	G>C	Conflicting-interpretations-of-pathogenicity, risk-factor, benign-likely-benign, likely-benign, benign	5 prime UTR variant, missense variant, coding sequence variant
rs35001569	A>G,T	Benign-likely-benign, pathogenic, likely-benign	Intron variant, coding sequence variant, missense variant, stop gained
rs35502531	AA>GC	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign	Intron variant, coding sequence variant, missense variant
rs41294980	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, benign-likely-benign	Coding sequence variant, missense variant
rs41295282	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs41295284	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, missense variant
rs41542214	C>A,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant, stop gained
rs63749792	C>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63749795	C>T	Pathogenic	Coding sequence variant, stop gained
rs63749818	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant, stop gained
rs63749820	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs63749829	G>C,T	Pathogenic	Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs63749837	G>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63749845	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs63749859	T>C,G	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63749863	C>-,CC	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63749867	C>A,T	Pathogenic, likely-benign, uncertain-significance	Intron variant, coding sequence variant, synonymous variant, stop gained
rs63749868	ATAG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63749876	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs63749887	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs63749900	G>A,C,T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63749909	T>A,C	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs63749916	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant, stop gained
rs63749923	C>T	Pathogenic	Coding sequence variant, stop gained
rs63749924	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63749926	C>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63749939	G>A,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63749944	A>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63749950	C>G,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63749956	->T	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63749959	AA>-,A,AAA	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63749965	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs63749979	T>-	Pathogenic	Intron variant, coding sequence variant, stop gained
rs63749981	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs63749986	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63749990	T>G	Likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63749995	C>A,G,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant, stop gained
rs63750005	C>T	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750016	C>A,T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63750020	->A	Pathogenic	Coding sequence variant, frameshift variant
rs63750028	AA>-,A,AAA	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750034	AA>-,A,AAA	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750035	AG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750036	GG>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750052	TG>-	Pathogenic	Inframe indel, intron variant, coding sequence variant, stop gained, 5 prime UTR variant
rs63750059	T>A,C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs63750061	AAAAG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750071	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750098	T>A	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750114	C>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic, benign-likely-benign, benign, likely-benign	Intron variant, coding sequence variant, missense variant, stop gained
rs63750115	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750131	CG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750144	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63750150	AT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750152	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750192	C>T	Pathogenic	Coding sequence variant, stop gained
rs63750193	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs63750198	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs63750206	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750211	A>G	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750212	->T	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750217	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs63750266	G>A,C	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750268	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750271	A>C,G	Likely-pathogenic, benign, uncertain-significance	Coding sequence variant, missense variant
rs63750281	T>A,G	Likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750282	->A	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750293	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750300	T>A,C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63750303	G>A,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750305	->TA	Pathogenic	Coding sequence variant, frameshift variant
rs63750309	TT>-,T	Pathogenic	Intron variant, coding sequence variant, frameshift variant, stop gained
rs63750310	C>G,T	Pathogenic	Stop gained, intron variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs63750316	C>T	Pathogenic	Coding sequence variant, stop gained
rs63750317	->T	Pathogenic	Coding sequence variant, stop gained
rs63750319	->A	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750339	C>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750361	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs63750365	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, uncertain-significance	Coding sequence variant, missense variant
rs63750375	CA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750380	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750385	A>-,AA	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750386	A>C,T	Pathogenic	Intron variant, coding sequence variant, missense variant, stop gained
rs63750420	GTACATA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750434	G>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750437	G>A,C	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750443	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63750447	T>A	Benign-likely-benign, benign, likely-pathogenic	Coding sequence variant, missense variant
rs63750449	A>C,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign, benign, likely-benign	Intron variant, coding sequence variant, missense variant
rs63750453	G>A	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750464	->A	Pathogenic	Coding sequence variant, frameshift variant
rs63750469	AA>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750472	G>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750482	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750483	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63750484	T>A	Pathogenic	Coding sequence variant, stop gained
rs63750486	TTG>-	Likely-pathogenic	Intron variant, coding sequence variant, inframe deletion
rs63750489	C>G,T	Pathogenic, uncertain-significance	Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs63750499	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs63750500	A>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs63750507	T>A,G	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs63750515	T>A,C,G	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs63750527	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs63750533	A>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750539	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs63750540	A>T	Pathogenic	Coding sequence variant, stop gained
rs63750542	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant, stop gained
rs63750547	T>C,G	Pathogenic, uncertain-significance	Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs63750549	G>A,T	Pathogenic, not-provided	Intron variant, coding sequence variant, missense variant, stop gained
rs63750561	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63750584	T>A,C	Pathogenic	Intron variant, coding sequence variant, missense variant, stop gained
rs63750587	C>A	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63750603	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant, coding sequence variant, synonymous variant, missense variant
rs63750604	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs63750610	C>G,T	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, missense variant
rs63750639	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs63750641	A>G	Likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750642	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750645	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750650	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Intron variant, coding sequence variant, missense variant
rs63750658	->AA	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750663	G>T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs63750677	C>-,CC	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750691	C>G	Pathogenic	Intron variant, coding sequence variant, stop gained
rs63750693	T>A,C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs63750702	A>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63750710	A>C	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750713	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750715	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750726	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs63750736	G>A,T	Pathogenic	Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs63750740	A>-,AA	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750748	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750749	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750764	T>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750769	TG>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750781	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs63750796	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs63750809	T>C,G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63750819	->G	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750824	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs63750850	G>A	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750855	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs63750859	TC>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63750865	G>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750866	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs63750867	A>-,AA	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750876	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63750889	T>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs63750891	T>G	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750899	C>G,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63750903	GG>AT,CT	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, stop gained
rs63750906	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750908	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750938	T>A,C	Pathogenic, likely-benign	Intron variant, coding sequence variant, synonymous variant, stop gained
rs63750948	T>C,G	Likely-pathogenic, pathogenic, not-provided, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750952	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63750962	->GC	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63750971	CA>-,CACA	Pathogenic	Coding sequence variant, frameshift variant
rs63750978	G>A	Pathogenic	Coding sequence variant, stop gained
rs63750993	A>C,G,T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63751015	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs63751022	G>A	Pathogenic	Coding sequence variant, stop gained
rs63751045	->C	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751049	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-pathogenic, likely-benign	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63751081	G>T	Pathogenic	Coding sequence variant, stop gained
rs63751083	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs63751087	C>G	Pathogenic	Coding sequence variant, stop gained
rs63751094	A>G,T	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63751101	TT>-,T,TTT	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751109	C>A,G,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63751118	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs63751124	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs63751137	T>A,G	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, stop gained
rs63751153	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63751194	C>A,G,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63751197	ATC>-	Likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, inframe deletion
rs63751200	GA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63751202	T>C,G	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63751221	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs63751225	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63751240	->A	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63751244	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63751247	AAG>-	Pathogenic	Intron variant, coding sequence variant, inframe deletion
rs63751255	->A	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751259	->A	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751266	G>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751275	C>A,G,T	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, synonymous variant, missense variant
rs63751277	C>T	Pathogenic	Coding sequence variant, stop gained
rs63751283	T>A,G	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63751301	GGGA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63751302	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs63751310	C>T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs63751393	C>G,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs63751415	T>C,G	Pathogenic, likely-benign	Intron variant, coding sequence variant, synonymous variant, stop gained
rs63751421	C>G,T	Pathogenic, uncertain-significance	Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs63751428	C>A,T	Pathogenic	Missense variant, stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs63751431	->AATC	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751435	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs63751439	->AAGC	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63751448	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs63751460	C>T	Pathogenic	Coding sequence variant, stop gained
rs63751465	G>A,T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63751467	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63751468	->A	Pathogenic	Coding sequence variant, frameshift variant
rs63751472	G>T	Pathogenic	Coding sequence variant, stop gained
rs63751480	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant, stop gained
rs63751486	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63751592	AAGA>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs63751594	TCTCTTT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63751595	G>A,C,T	Likely-pathogenic, pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs63751596	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs63751597	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs63751598	A>C,G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs63751606	C>G,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, synonymous variant, stop gained
rs63751607	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs63751608	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs63751609	A>G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs63751613	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs63751615	C>A,T	Pathogenic, likely-benign	Missense variant, stop gained, coding sequence variant, synonymous variant, 5 prime UTR variant
rs63751616	T>C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs63751620	->T	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751630	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs63751632	G>A	Pathogenic	Intron variant, coding sequence variant, synonymous variant
rs63751637	GA>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751639	GGAAA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63751642	AGA>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, inframe deletion
rs63751651	AG>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs63751652	AGCA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs63751653	A>-,AA	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751657	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, synonymous variant
rs63751659	->T	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751662	G>A,C,T	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, synonymous variant, missense variant
rs63751665	G>A,C,T	Likely-pathogenic, pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Missense variant, intron variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs63751677	->A	Pathogenic	Coding sequence variant, frameshift variant
rs63751680	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs63751684	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign	Intron variant, coding sequence variant, missense variant
rs63751685	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs63751689	->T	Pathogenic	Coding sequence variant, stop gained
rs63751691	GCTTTCGAGGTG>-	Likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, splice donor variant, inframe deletion, initiator codon variant
rs63751704	A>-	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751705	G>C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs63751707	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Intron variant, coding sequence variant, synonymous variant
rs63751709	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs63751710	AG>GTT	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs63751711	G>A,T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs63751713	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs63751715	G>A,C,T	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, synonymous variant, missense variant
rs117221851	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs143009528	A>C,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs146777069	C>A,T	Risk-factor, benign-likely-benign, uncertain-significance, likely-benign	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant, synonymous variant
rs147939838	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs193922367	T>A	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs193922370	G>A,C,T	Pathogenic, likely-pathogenic	Splice acceptor variant, intron variant
rs199935667	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs201541505	C>A	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant
rs201673334	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs202038499	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs267607699	->AAGT	Pathogenic	Coding sequence variant, frameshift variant
rs267607712	A>G,T	Pathogenic	Intron variant, splice acceptor variant
rs267607713	G>C	Pathogenic	Missense variant, splice acceptor variant, 5 prime UTR variant, coding sequence variant, intron variant
rs267607715	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant
rs267607716	A>C,G	Pathogenic	Intron variant, splice acceptor variant
rs267607717	G>A	Pathogenic	Intron variant, splice acceptor variant
rs267607718	G>A,T	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs267607719	GT>-	Likely-pathogenic	Intron variant, splice donor variant
rs267607720	C>G,T	Pathogenic, likely-pathogenic	Intron variant
rs267607722	T>C,G	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs267607723	AGAA>-	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant, 5 prime UTR variant
rs267607725	G>A,C	Likely-pathogenic, uncertain-significance	Initiator codon variant, missense variant, 5 prime UTR variant, coding sequence variant, intron variant
rs267607726	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, synonymous variant, 5 prime UTR variant, coding sequence variant, intron variant
rs267607727	G>A,T	Likely-pathogenic	Missense variant, splice donor variant, 5 prime UTR variant, coding sequence variant, intron variant
rs267607728	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant
rs267607729	->A	Pathogenic	Coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant
rs267607731	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs267607732	A>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs267607734	G>A	Pathogenic	Intron variant, splice donor variant
rs267607735	G>A	Pathogenic	Intron variant
rs267607736	G>C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs267607738	->T	Pathogenic	Intron variant, splice donor variant
rs267607739	->A	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs267607742	T>A,C	Pathogenic, likely-pathogenic	Splice donor variant
rs267607743	A>G	Likely-pathogenic	Splice acceptor variant
rs267607744	G>A,C	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant
rs267607745	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs267607746	GCAAGTTACTCAGATGGAAAA>T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs267607749	A>G	Likely-pathogenic	Intron variant
rs267607750	G>C,T	Pathogenic, likely-pathogenic	Splice donor variant
rs267607751	T>C,G	Pathogenic	Splice donor variant
rs267607753	A>G	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs267607754	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant
rs267607755	T>A	Pathogenic	Coding sequence variant, intron variant, stop gained, 5 prime UTR variant
rs267607759	A>C,G	Pathogenic	Splice acceptor variant
rs267607760	A>G	Pathogenic	Intron variant
rs267607765	G>A,T	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs267607767	A>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs267607768	G>A,C	Pathogenic, uncertain-significance	Intron variant
rs267607771	G>A,T	Pathogenic	Intron variant
rs267607772	G>T	Pathogenic	Splice donor variant
rs267607773	G>-	Likely-pathogenic	Splice donor variant
rs267607774	AGTC>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs267607777	A>G	Pathogenic	Intron variant
rs267607778	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs267607779	G>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, splice donor variant
rs267607780	A>C,G,T	Pathogenic, likely-pathogenic	Intron variant
rs267607783	TA>-	Pathogenic	Intron variant, splice acceptor variant
rs267607784	G>A,C,T	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs267607785	T>A,C	Likely-pathogenic, uncertain-significance	Intron variant
rs267607786	A>C,G,T	Likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Intron variant
rs267607787	AATG>-	Pathogenic	Initiator codon variant, frameshift variant, 5 prime UTR variant, coding sequence variant, intron variant
rs267607788	T>G	Pathogenic, likely-pathogenic	Intron variant
rs267607789	G>A,C,T	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs267607790	T>A,C	Pathogenic	Intron variant, splice donor variant
rs267607791	->T	Pathogenic	Intron variant, splice donor variant
rs267607792	A>T	Pathogenic	Intron variant
rs267607794	A>G,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Intron variant, splice acceptor variant
rs267607795	G>A,C,T	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs267607798	G>-	Pathogenic	Intron variant, splice donor variant
rs267607799	ATCG>-	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs267607801	ACTT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs267607803	A>G	Pathogenic, likely-pathogenic, uncertain-significance	Intron variant
rs267607804	CTCT>-,CT	Benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Intron variant
rs267607805	A>G,T	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs267607806	T>C	Likely-pathogenic	Intron variant, splice donor variant
rs267607808	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant, 5 prime UTR variant
rs267607809	A>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, 5 prime UTR variant
rs267607815	A>C,G,T	Likely-pathogenic	Splice acceptor variant
rs267607816	G>A,C	Likely-pathogenic	Intron variant, splice donor variant
rs267607819	G>A,C	Pathogenic	Splice acceptor variant
rs267607821	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs267607822	->T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs267607823	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs267607825	G>A,C,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs267607831	T>C,G	Likely-pathogenic	Splice donor variant
rs267607832	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs267607836	A>C,G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs267607837	G>A,C,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs267607842	G>A	Pathogenic	Coding sequence variant, stop gained
rs267607844	C>A,G,T	Likely-pathogenic, uncertain-significance	Intron variant
rs267607845	G>A,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant
rs267607849	CTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs267607850	G>A	Pathogenic, likely-pathogenic	Intron variant
rs267607851	A>T	Likely-pathogenic	Intron variant
rs267607852	A>C,G,T	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs267607853	G>A,C,T	Pathogenic, likely-pathogenic	Splice donor variant
rs267607854	G>A	Pathogenic	Intron variant, splice acceptor variant
rs267607856	T>C,G	Pathogenic, likely-pathogenic	Splice donor variant
rs267607866	G>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs267607867	G>A,T	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs267607868	G>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant
rs267607869	T>C	Likely-pathogenic	Intron variant, splice donor variant
rs267607871	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Intron variant, splice acceptor variant
rs267607873	TGAGG>C	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs267607875	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs267607877	A>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs267607878	G>A,C,T	Pathogenic, uncertain-significance	Intron variant
rs267607879	G>A,C,T	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs267607881	AATTTCTTTGGACCA>-	Likely-pathogenic	Intron variant, splice acceptor variant
rs267607883	A>G	Pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs267607884	G>A,C,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Intron variant, splice acceptor variant
rs267607885	A>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs267607888	G>A,C,T	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs267607889	A>G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs267607892	->TGTT	Pathogenic	Terminator codon variant, frameshift variant, stop lost
rs267607893	C>A,G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, stop gained
rs267607894	T>A,C	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs267607896	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs267607897	GCAGCTTGCTA>-	Pathogenic	Coding sequence variant, frameshift variant
rs267607898	CACA>-,CA	Pathogenic	Coding sequence variant, frameshift variant
rs267607900	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs267607901	AA>-,A,AAAA	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs267607903	->AACA	Pathogenic	Coding sequence variant, frameshift variant
rs267607904	G>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs267607906	A>C,G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs281864936	GAGA>-,GA	Pathogenic	Coding sequence variant, frameshift variant
rs281864938	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs369521379	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs370108219	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs370687064	G>A,C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs377279035	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs377433038	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs397514684	T>C,G	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant, intron variant, 5 prime UTR variant
rs531873434	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs550890395	C>A,G,T	Uncertain-significance, benign-likely-benign, pathogenic, likely-benign	Synonymous variant, stop gained, intron variant, coding sequence variant
rs566928243	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs576724240	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs587778881	->G	Pathogenic	Intron variant, coding sequence variant, initiator codon variant, frameshift variant
rs587778883	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587778884	GGAGATGG>-	Pathogenic	5 prime UTR variant, coding sequence variant, initiator codon variant, frameshift variant
rs587778885	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587778887	GTC>A	Pathogenic	Coding sequence variant, frameshift variant
rs587778889	->A	Pathogenic	Coding sequence variant, frameshift variant
rs587778894	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs587778896	T>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, stop gained
rs587778898	->C	Pathogenic	Coding sequence variant, frameshift variant
rs587778899	->GTCAGCC	Pathogenic	Coding sequence variant, frameshift variant
rs587778900	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778903	CCAAAAATCAGAGCTTGGAGGG>ATTTT,NNNNN	Pathogenic	Coding sequence variant, frameshift variant
rs587778905	GGATACAACAAAGGGGACTTC>TAAA	Pathogenic	Coding sequence variant, frameshift variant
rs587778906	->G	Pathogenic	Coding sequence variant, frameshift variant
rs587778908	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778909	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778911	T>G	Likely-pathogenic	Splice donor variant
rs587778912	GACATCGGGAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778913	C>G,T	Pathogenic, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant, intron variant, stop gained
rs587778914	A>C	Likely-pathogenic	5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs587778915	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778917	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs587778918	A>T	Pathogenic	Stop gained, coding sequence variant
rs587778919	GGAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778920	CAT>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, inframe deletion
rs587778922	->T	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, stop gained
rs587778923	AAGA>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587778924	->T	Pathogenic	Coding sequence variant, frameshift variant
rs587778925	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778926	->T	Pathogenic	Coding sequence variant, frameshift variant
rs587778928	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778929	T>A	Pathogenic	Stop gained, coding sequence variant
rs587778930	TTC>-	Pathogenic, likely-pathogenic	Coding sequence variant, inframe deletion
rs587778931	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778932	GAGG>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587778933	G>A	Pathogenic	Stop gained, coding sequence variant
rs587778934	->TTATA	Pathogenic	Coding sequence variant, frameshift variant
rs587778937	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs587778938	TAAATCA>ATTT	Pathogenic	Splice donor variant, intron variant
rs587778939	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778942	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778944	->A	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587778946	AGATGGTCCCAAAGAAGGA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778947	->T	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778948	->ACAT	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778949	A>TTCTT	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778950	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778953	CTTT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778954	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778955	C>A,T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, intron variant, synonymous variant
rs587778956	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778957	A>-,AA	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778958	->GATTACCCCTTCTG	Pathogenic, likely-pathogenic	Stop gained, intron variant, coding sequence variant, inframe indel
rs587778959	->ATTACCCCTTCTGATTGACAACTATGTGC	Pathogenic	Stop gained, intron variant, coding sequence variant, inframe indel
rs587778960	->T	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778961	->T	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778962	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587778964	A>C,T	Likely-pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs587778966	->C	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587778968	G>-,GG	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587778971	G>T	Pathogenic, likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs587778972	T>C	Likely-pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs587778973	GA>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, splice acceptor variant
rs587778975	C>G,T	Pathogenic, uncertain-significance	Stop gained, intron variant, coding sequence variant, missense variant
rs587778976	A>G	Likely-pathogenic, uncertain-significance	Intron variant
rs587778978	G>A,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs587778979	GTGAAGTGCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778980	TGCCTGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778981	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587778982	->GAACACATTGTCTATAAAGCCTTGCGCTCACACATTCTGCCTCCTAA	Pathogenic	Coding sequence variant, frameshift variant
rs587778983	A>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587778984	->T	Pathogenic	Coding sequence variant, frameshift variant
rs587778989	->A	Pathogenic	Coding sequence variant, frameshift variant
rs587778992	C>T	Pathogenic	Stop gained, coding sequence variant
rs587778997	G>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587778998	A>G	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs587779006	TG>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587779009	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587779012	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587779014	TGAA>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587779015	A>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587779018	T>-,TT	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, intron variant, stop gained
rs587779019	->GA	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587779021	G>A,C	Pathogenic, likely-pathogenic, uncertain-significance	5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs587779022	G>A,C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs587779023	TTCTCAGTTAAAAAAGT>-	Likely-pathogenic	Splice donor variant, coding sequence variant, 5 prime UTR variant
rs587779024	T>A,G	Pathogenic, likely-pathogenic	Splice donor variant
rs587779026	GTTT>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs587779027	G>T	Likely-pathogenic	Splice acceptor variant
rs587779031	T>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs587779032	GG>AT	Pathogenic	Splice donor variant, coding sequence variant, 5 prime UTR variant
rs587779033	->T	Likely-pathogenic	Splice donor variant
rs587779034	G>A	Pathogenic, uncertain-significance	Intron variant
rs587779035	A>G	Pathogenic-likely-pathogenic, likely-pathogenic	Intron variant, splice acceptor variant
rs587779036	TTCTAATAGAGAACTGATAGAAATT>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, splice acceptor variant
rs587779037	GTTA>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587779039	TCA>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, inframe deletion
rs587779041	TTAGATCGT>-	Pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs587779042	T>A	Likely-pathogenic	Intron variant
rs587779043	TCCTT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587779047	AC>-,ACAC	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs587779050	GGTA>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs587779052	C>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587779054	T>A,C	Pathogenic, likely-benign, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant, intron variant, synonymous variant
rs587779055	A>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587779058	C>T	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, stop gained
rs587779950	G>A,T	Likely-pathogenic	Intron variant, splice acceptor variant
rs587779954	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587780683	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587781518	G>C	Pathogenic, likely-pathogenic	Intron variant
rs587781554	->A	Pathogenic, likely-pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs587781892	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587782087	C>G,T	Pathogenic, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant, intron variant, stop gained
rs587782265	GCACATCGAGAGCA>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, frameshift variant
rs730881734	AAGAAGA>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, splice acceptor variant
rs746536721	A>C,G	Likely-pathogenic	Splice acceptor variant
rs755073786	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, intron variant, synonymous variant
rs756099600	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs756843954	G>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs764085979	T>A,C	Pathogenic	Synonymous variant, intron variant, stop gained, coding sequence variant, 5 prime UTR variant
rs764120517	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs773647920	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, initiator codon variant, 5 prime UTR variant, missense variant
rs786201990	->T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs786202326	TA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786202328	CTA>-	Likely-pathogenic	Intron variant, inframe deletion, coding sequence variant, 5 prime UTR variant
rs786202767	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786203456	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs786203893	TTCTAGTGGCAGGGCTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs863223312	GTAAATCA>ATTT	Pathogenic	Splice donor variant, intron variant
rs863224480	AAAACCCTAGCCTTCAAAAT>-	Pathogenic	Intron variant, initiator codon variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs863225373	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863225376	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225377	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863225378	GG>ATCTGGACC	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs863225379	GTTGAGTTTCTGAA>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs863225380	->G	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs863225381	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs863225383	A>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs863225384	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs864622250	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs864622457	C>G	Likely-pathogenic	Stop gained, coding sequence variant
rs869244899	->C	Pathogenic	Frameshift variant, coding sequence variant
rs876658247	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, 5 prime UTR variant
rs876658339	A>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, 5 prime UTR variant
rs876658657	A>G	Likely-pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant, 5 prime UTR variant
rs876658821	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs876658915	T>A,C	Likely-benign, pathogenic, uncertain-significance	Stop gained, coding sequence variant, synonymous variant
rs876658962	T>G	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs876659068	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs876659073	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs876659226	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs876659608	G>T	Pathogenic	Stop gained, coding sequence variant
rs876659681	->TT	Pathogenic, likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs876660214	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, 5 prime UTR variant
rs876660458	GTCTGGT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs876660589	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs876660822	A>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, 5 prime UTR variant
rs876660860	GA>T	Pathogenic, likely-pathogenic	Frameshift variant, intron variant, coding sequence variant, 5 prime UTR variant
rs876661059	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs876661159	C>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs878853777	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs878853778	->T	Pathogenic	Frameshift variant, coding sequence variant
rs878853780	T>C	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs878853785	AT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs878853787	->A	Pathogenic	Stop gained, coding sequence variant
rs878853792	->A	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs878853794	->AG	Pathogenic	Frameshift variant, intron variant, coding sequence variant, 5 prime UTR variant
rs886039423	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs886039424	G>A,C	Pathogenic, uncertain-significance	Missense variant, intron variant, stop gained, coding sequence variant
rs983986337	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs1017112753	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs1057517541	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1057517543	AAGAAGATCTGGA>-	Likely-pathogenic	Splice acceptor variant, intron variant, 5 prime UTR variant, coding sequence variant
rs1057517617	GTATGG>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1057520517	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs1057520627	G>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant, stop gained
rs1060500687	AA>A,AAA,G	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1060500688	G>-	Pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1060500689	C>G,T	Pathogenic, likely-benign	Stop gained, 5 prime UTR variant, synonymous variant, coding sequence variant
rs1060500692	GAGATGG>-	Pathogenic	Initiator codon variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1060500698	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1060500699	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1060500702	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs1060500703	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1060500706	G>-	Pathogenic	Stop gained, coding sequence variant
rs1060500707	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1064793172	C>-	Pathogenic	Intron variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1064793173	TTAAATCCA>C	Pathogenic	Frameshift variant, coding sequence variant
rs1064793177	C>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1064793469	T>-	Pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1064793823	->GT	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1064794122	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1064794267	->AGTTA	Pathogenic	Frameshift variant, coding sequence variant
rs1064794331	->TGTGCCCC	Pathogenic, likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1064794348	TGTT>-	Pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1064794353	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064794373	C>-	Pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1064794612	AGAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064795441	T>-	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Intron variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1064795515	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064795693	A>G	Likely-pathogenic	Intron variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1064796057	C>G,T	Pathogenic, uncertain-significance	Stop gained, missense variant, 5 prime UTR variant, coding sequence variant
rs1114167435	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1248251121	G>A,C,T	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant, 5 prime UTR variant, stop gained
rs1253275403	T>C,G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, intron variant
rs1302248679	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1304802474	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1305605404	T>C,G	Uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, synonymous variant, 5 prime UTR variant, missense variant
rs1416171624	G>A,T	Pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant, stop gained
rs1434898623	G>A	Pathogenic	Splice donor variant
rs1437454428	G>A,T	Uncertain-significance, pathogenic	5 prime UTR variant, stop gained, missense variant, coding sequence variant
rs1466223609	G>C,T	Uncertain-significance, pathogenic	Missense variant, 5 prime UTR variant, intron variant, coding sequence variant, stop gained
rs1481129490	C>G,T	Pathogenic, likely-pathogenic	5 prime UTR variant, intron variant, coding sequence variant, synonymous variant
rs1482654951	G>C,T	Likely-pathogenic	5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs1553638868	C>ATCTT	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553640314	GG>TT	Uncertain-significance, likely-pathogenic	Initiator codon variant, intron variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1553640334	A>C	Likely-pathogenic	5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs1553640340	T>G	Pathogenic	Splice donor variant, intron variant
rs1553641269	AGCCATGTGGCTCA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1553641273	C>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1553641295	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1553641403	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1553642079	->T	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1553642492	TTTTTTTTTTTGAGACAAAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCTCAGCTCACTGCAATCACTACCTCTTGAGTTCAAGCAGTTGTCCTGCCTCAGCCTCTTGAGTACCTGGGATTACAGGCATGCGTCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAA	Pathogenic	Splice donor variant, intron variant, splice acceptor variant, 5 prime UTR variant, coding sequence variant
rs1553642657	GGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGT>-	Pathogenic	Splice donor variant, intron variant, splice acceptor variant, 5 prime UTR variant, coding sequence variant
rs1553642698	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553642707	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553642718	TA>C	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553642777	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553644024	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1553644123	C>G,T	Uncertain-significance, pathogenic	Stop gained, 5 prime UTR variant, missense variant, coding sequence variant
rs1553644155	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1553644194	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1553644277	T>C	Likely-pathogenic	Splice donor variant
rs1553645226	C>A,G	Pathogenic	5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs1553645256	CTC>-	Pathogenic	Intron variant, 5 prime UTR variant, inframe indel, stop gained, coding sequence variant
rs1553645301	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553645331	->C	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553646602	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553646669	TAGAA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553646681	->CA	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553646764	G>A	Likely-pathogenic	Splice donor variant, intron variant
rs1553647795	GGCAAAGAAAGATGATGTAACTTACGCAAAGCTACACAGCTCTTAAGTAGCAGTGCCAATATTTGAACACACTCAGACTCGATCCTGAGGTTTTGACCACTGTGTCATCTGGCCTCAAATCTTCTGGCCACCACATACACCATATGTGGGCTTTTTCTCCCCCTCCCACTATCTAAGGTAATTGTTCTCTCTTATTTTCCTGACAGTTTAGAAATCAGTCCCCAGAATGTGGATGTTAATGTGCACCCCACAAAG	Pathogenic	Splice acceptor variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553647894	G>A,C	Likely-pathogenic	Splice acceptor variant, intron variant
rs1553647928	CCCCAGAATGT>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553647947	TG>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553647969	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553647995	->C	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553648023	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553648029	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553648040	G>T	Pathogenic	5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs1553648047	->GAGCA	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553648058	->CATCCTGGAGCGGGTGCAGCAGCACATCGAGAGCAAGCTCCTGGGCTCCAAT	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553648068	G>T	Pathogenic	5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs1553648149	AAGC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553648195	CAAT>AATGTGCA	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553648201	ATGTACTTCACCCAGG>-	Pathogenic, likely-pathogenic	Splice donor variant, initiator codon variant, intron variant, 5 prime UTR variant, coding sequence variant
rs1553648220	C>G,T	Likely-benign, likely-pathogenic	Synonymous variant, stop gained, intron variant, coding sequence variant
rs1553648225	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553650741	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553651073	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553651130	A>TAT	Pathogenic	Frameshift variant, coding sequence variant
rs1553651299	CA>TGCTGAAGTGGCT	Pathogenic	Frameshift variant, coding sequence variant
rs1553651429	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553652883	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553652930	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553653037	->CG	Pathogenic	Frameshift variant, coding sequence variant
rs1553653084	TT>A	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1553653115	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553653135	->TA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553653158	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553653195	C>G,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1553653237	->G	Pathogenic	Splice donor variant, coding sequence variant
rs1553657971	->TA	Pathogenic	Frameshift variant, coding sequence variant
rs1553658009	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553658104	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553658246	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1553659334	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553659500	A>G	Pathogenic	Intron variant
rs1553662622	ACCGCTCTTTGACC>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553662753	T>G	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1553662800	->CCAGATAGTCCAGA	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553663159	T>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1553663750	TGATTGGATTACCC>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553663834	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553663981	AC>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553664119	T>C	Likely-pathogenic	Splice donor variant, intron variant
rs1553664353	AGGAA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553664436	A>G,T	Uncertain-significance, pathogenic, likely-pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs1553664506	TCT>-	Likely-pathogenic	Intron variant, inframe deletion, coding sequence variant
rs1553664617	->G	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553664702	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1553665467	GA>TCTTATGACATCTAAT	Likely-pathogenic	Splice acceptor variant, coding sequence variant
rs1553665514	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1553665683	->TATAAAGCCTTGCGCTCACACATTCTGCCTC	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs1553665866	G>T	Pathogenic	Stop gained, coding sequence variant
rs1553665977	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1553666143	->T	Pathogenic	Stop lost, terminator codon variant, frameshift variant
rs1559521039	AGAT>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1559524070	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1559524405	G>T	Pathogenic	5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs1559530646	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1559539068	CG>GT	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1559539489	CCTATTTGCCCAAA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1559543768	A>C	Likely-pathogenic	5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs1559544064	GGA>T	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1559544297	->AGCA	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1559551570	ACC>T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1559553492	->TG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1559553501	C>T	Pathogenic	Stop gained, coding sequence variant
rs1559554339	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1559558071	AG>CC	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1559574795	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559575107	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1559575143	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559578422	A>C	Likely-pathogenic	Splice acceptor variant
rs1559588540	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1559591546	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1559597322	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575413885	AACAGAAAGAAGATCTGGATATTGTATGTGAAAGGTTCACTACTAGTAAACTGCAGTCCT>-	Pathogenic	5 prime UTR variant, splice acceptor variant, intron variant, coding sequence variant
rs1575414321	GAAAGGTTCACT>ATGTAAGG	Pathogenic	5 prime UTR variant, intron variant, stop gained, inframe indel, coding sequence variant
rs1575414387	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1575414904	->A	Pathogenic	5 prime UTR variant, initiator codon variant, frameshift variant, stop gained, intron variant, coding sequence variant
rs1575428643	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1575441094	TAAGAA>GATC	Pathogenic	Splice donor variant, intron variant
rs1575448385	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1575449093	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1575449402	T>C,G	Pathogenic	Splice donor variant, intron variant
rs1575469070	C>-	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1575469505	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1575481212	C>A	Pathogenic	5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs1575535938	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575536219	CAT>TG	Pathogenic	Frameshift variant, coding sequence variant
rs1575536254	->TGTCACAGAGGATAAGACAGAT	Pathogenic	Stop gained, inframe indel, coding sequence variant
rs1575536698	AG>C	Pathogenic	Frameshift variant, coding sequence variant
rs1575537843	C>A,T	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs1575537933	G>T	Pathogenic	Stop gained, coding sequence variant
rs1575552157	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575554246	GG>AA	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1575594377	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575620443	TCTTTGACCTTGCC>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575621386	A>CTT	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575621506	->TG	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575622163	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575628928	GGTCAGTGA>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1575632112	->G	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575632215	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1575639851	GG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1575640892	->AATA	Pathogenic	Frameshift variant, coding sequence variant
rs1575640960	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1575641243	CTGCCTGATCTA>-	Likely-pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000461	hsa-miR-155-5p	Luciferase reporter assay, Western blot, Northern blot	20351277
MIRT000461	hsa-miR-155-5p	Luciferase reporter assay, Western blot, Northern blot	20351277
MIRT028566	hsa-miR-30a-5p	Proteomics	18668040
MIRT035519	hsa-miR-31-5p	Luciferase reporter assay	23539435
MIRT035519	hsa-miR-31-5p	Luciferase reporter assay	23539435
MIRT000461	hsa-miR-155-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	23715647
MIRT632147	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT632146	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT632145	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT632144	hsa-miR-7977	HITS-CLIP	23824327
MIRT632143	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT632142	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT632141	hsa-miR-3122	HITS-CLIP	23824327
MIRT632140	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT632139	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT632138	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT519304	hsa-miR-330-3p	PAR-CLIP	23446348
MIRT519303	hsa-miR-3065-5p	PAR-CLIP	23446348
MIRT519302	hsa-miR-6850-3p	PAR-CLIP	23446348
MIRT519301	hsa-miR-939-3p	PAR-CLIP	23446348
MIRT519300	hsa-miR-1234-3p	PAR-CLIP	23446348
MIRT519299	hsa-miR-7107-5p	PAR-CLIP	23446348
MIRT519298	hsa-miR-4793-3p	PAR-CLIP	23446348
MIRT519297	hsa-miR-1285-3p	PAR-CLIP	23446348
MIRT519296	hsa-miR-3187-5p	PAR-CLIP	23446348
MIRT519295	hsa-miR-5189-5p	PAR-CLIP	23446348
MIRT519294	hsa-miR-612	PAR-CLIP	23446348
MIRT519293	hsa-miR-6860	PAR-CLIP	23446348
MIRT519292	hsa-miR-661	PAR-CLIP	23446348
MIRT519291	hsa-miR-196a-3p	PAR-CLIP	23446348
MIRT519290	hsa-miR-7703	PAR-CLIP	23446348
MIRT462221	hsa-miR-302f	PAR-CLIP	23592263
MIRT462220	hsa-miR-7846-3p	PAR-CLIP	23592263
MIRT462219	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT462218	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT462217	hsa-miR-940	PAR-CLIP	23592263
MIRT462216	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT462215	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT462214	hsa-miR-1827	PAR-CLIP	23592263
MIRT462213	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT462212	hsa-miR-658	PAR-CLIP	23592263
MIRT462211	hsa-miR-1273e	PAR-CLIP	23592263
MIRT732260	hsa-miR-148b-3p	Luciferase reporter assay, Western blot	26759383
MIRT732260	hsa-miR-148b-3p	Luciferase reporter assay, Western blot	26759383
MIRT736981	hsa-miR-134-3p	Microarray, Immunohistochemistry (IHC)	32170146
MIRT632147	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT632146	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT632145	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT632144	hsa-miR-7977	HITS-CLIP	23824327
MIRT632143	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT632142	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT632141	hsa-miR-3122	HITS-CLIP	23824327
MIRT632140	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT632139	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT632138	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT519304	hsa-miR-330-3p	PAR-CLIP	23446348
MIRT519303	hsa-miR-3065-5p	PAR-CLIP	23446348
MIRT519302	hsa-miR-6850-3p	PAR-CLIP	23446348
MIRT519301	hsa-miR-939-3p	PAR-CLIP	23446348
MIRT519300	hsa-miR-1234-3p	PAR-CLIP	23446348
MIRT519299	hsa-miR-7107-5p	PAR-CLIP	23446348
MIRT519298	hsa-miR-4793-3p	PAR-CLIP	23446348
MIRT519297	hsa-miR-1285-3p	PAR-CLIP	23446348
MIRT519296	hsa-miR-3187-5p	PAR-CLIP	23446348
MIRT519295	hsa-miR-5189-5p	PAR-CLIP	23446348
MIRT519294	hsa-miR-612	PAR-CLIP	23446348
MIRT519293	hsa-miR-6860	PAR-CLIP	23446348
MIRT519292	hsa-miR-661	PAR-CLIP	23446348
MIRT519291	hsa-miR-196a-3p	PAR-CLIP	23446348
MIRT519290	hsa-miR-7703	PAR-CLIP	23446348
MIRT462221	hsa-miR-302f	PAR-CLIP	23592263
MIRT462220	hsa-miR-7846-3p	PAR-CLIP	23592263
MIRT462219	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT462218	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT462217	hsa-miR-940	PAR-CLIP	23592263
MIRT462216	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT462215	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT462214	hsa-miR-1827	PAR-CLIP	23592263
MIRT462213	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT462212	hsa-miR-658	PAR-CLIP	23592263
MIRT462211	hsa-miR-1273e	PAR-CLIP	23592263
MIRT1150999	hsa-miR-1263	CLIP-seq
MIRT1151000	hsa-miR-208a	CLIP-seq
MIRT1151001	hsa-miR-208b	CLIP-seq
MIRT1151002	hsa-miR-3074-3p	CLIP-seq
MIRT1151003	hsa-miR-3149	CLIP-seq
MIRT1151004	hsa-miR-3617	CLIP-seq
MIRT1151005	hsa-miR-374a	CLIP-seq
MIRT1151006	hsa-miR-374b	CLIP-seq
MIRT1151007	hsa-miR-4781-3p	CLIP-seq
MIRT1151008	hsa-miR-499-5p	CLIP-seq
MIRT1151009	hsa-miR-568	CLIP-seq
MIRT1151010	hsa-miR-641	CLIP-seq
MIRT1151011	hsa-miR-642b	CLIP-seq
MIRT1151012	hsa-miR-892a	CLIP-seq
MIRT2272564	hsa-miR-1264	CLIP-seq
MIRT2272565	hsa-miR-142-5p	CLIP-seq
MIRT2272566	hsa-miR-340	CLIP-seq
MIRT2272567	hsa-miR-361-5p	CLIP-seq
MIRT1151005	hsa-miR-374a	CLIP-seq
MIRT1151006	hsa-miR-374b	CLIP-seq
MIRT1151009	hsa-miR-568	CLIP-seq
MIRT1151012	hsa-miR-892a	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BHLHE41	Repression	24165159
BRIP1	Unknown	24351291
CEBPZ	Repression	11704838
MAFG	Unknown	25219500

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000289	Process	Nuclear-transcribed mRNA poly(A) tail shortening	IEA
GO:0000712	Process	Resolution of meiotic recombination intermediates	IEA
GO:0000793	Component	Condensed chromosome	IEA
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000795	Component	Synaptonemal complex	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0002204	Process	Somatic recombination of immunoglobulin genes involved in immune response	IEA
GO:0003682	Function	Chromatin binding	IDA	26300262
GO:0003682	Function	Chromatin binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IDA	11809883
GO:0005515	Function	Protein binding	IPI	2414623, 8942985, 11292842, 11427529, 11429708, 11793469, 12810663, 14676842, 16083711, 16189514, 16403449, 17581638, 17715146, 17967441, 19060904, 20533529, 20603015, 20603073, 20706999, 21516116, 21653829, 22252508, 22792074, 23585563, 25077178, 25416956, 25502805, 25910212, 26300
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IC	11809883
GO:0005634	Component	Nucleus	IDA	26300262
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	ISS
GO:0005712	Component	Chiasma	IEA
GO:0005715	Component	Late recombination nodule	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006298	Process	Mismatch repair	IBA
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	IGI	23603115
GO:0006298	Process	Mismatch repair	TAS	8128251
GO:0006303	Process	Double-strand break repair via nonhomologous end joining	IEA
GO:0006950	Process	Response to stress	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007060	Process	Male meiosis chromosome segregation	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007131	Process	Reciprocal meiotic recombination	IEA
GO:0007140	Process	Male meiotic nuclear division	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008047	Function	Enzyme activator activity	IDA	17715146
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016321	Process	Female meiosis chromosome segregation	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:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019899	Function	Enzyme binding	IPI	26300262
GO:0030983	Function	Mismatched DNA binding	IEA
GO:0031981	Component	Nuclear lumen	IEA
GO:0032137	Function	Guanine/thymine mispair binding	IEA
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:0043060	Process	Meiotic metaphase I homologous chromosome alignment	IEA
GO:0045132	Process	Meiotic chromosome segregation	IEA
GO:0045141	Process	Meiotic telomere clustering	IEA
GO:0045143	Process	Homologous chromosome segregation	IEA
GO:0045190	Process	Isotype switching	IEA
GO:0045950	Process	Negative regulation of mitotic recombination	IEA
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:0048477	Process	Oogenesis	IEA
GO:0051257	Process	Meiotic spindle midzone assembly	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0140664	Function	ATP-dependent DNA damage sensor activity	IEA

Other IDs

• MIM: 120436
• HGNC: 7127
• e!Ensembl: ENSG00000076242

Protein

• UniProt ID: P40692
• Protein name: DNA mismatch repair protein Mlh1 (MutL protein homolog 1)
• Protein function: Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recrui
• PDB: 3RBN, 4P7A, 5U5P, 6WBA, 6WBB, 6WBC, 7M60
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13589	HATPase_c_3	25 → 138		Domain
  PF01119	DNA_mis_repair	216 → 335	DNA mismatch repair protein, C-terminal domain	Family
  PF16413	Mlh1_C	502 → 756	DNA mismatch repair protein Mlh1 C-terminus	Domain

• Tissue specificity: TISSUE SPECIFICITY: Colon, lymphocytes, breast, lung, spleen, testis, prostate, thyroid, gall bladder and heart.
• Sequence:

  MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQ
  IQDNGTGIRKEDLDIVCERFTTSKLQSFEDLASISTYGFRGEALASISHVAHVTITTKTA
  DGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIATRRKALKNPSEEYGKILEVV
  GRYSVHNAGISFSVKKQGETVADVRTLPNASTVDNIRSIFGNAVSRELIEIGCEDKTLAF
  KMNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISP
  QNVDVNVHPTKHEVHFLHEESILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGPSGEMV
  KSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDIS
  SGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVE
  MVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWAL
  AQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEE
  DGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRL
  ATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIV
  YKALRSHILPPKHFTEDGNILQLANLPDLYKVFERC

• Sequence length: 756

Pathways

KEGG:

Platinum drug resistance
Mismatch repair
Fanconi anemia pathway
Pathways in cancer
Colorectal cancer
Endometrial cancer
Gastric cancer

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 Carcinoma	breast carcinoma	rs63750726, rs2081922847	N/A
colon cancer	Colon cancer	rs1553641362, rs63750547, rs63751657, rs587779018, rs1434898623, rs1114167435, rs63750691, rs63750781	N/A
colorectal cancer	Colorectal cancer, hereditary nonpolyposis, type 2	rs267607803, rs587778934, rs11541859, rs1553664353, rs63750864, rs1064793172, rs267607778, rs1575376830, rs267607742, rs587778923, rs267607883, rs786203456, rs267607732, rs63749995, rs267607816, rs63750300, rs63750005, rs587780683, rs1575449402, rs63751592, rs878853778, rs267607805, rs267607726, rs1553664436, rs267607718, rs869312767, rs587778913, rs1553638868, rs267607892, rs63751711, rs587778930, rs63750899, rs1416171624, rs63751310, rs587778894, rs267607739, rs63749939, rs1437454428, rs267607906, rs63751015, rs1248251121, rs63751595, rs1057517543, rs267607735, rs63751094, rs267607819, rs1553642707, rs267607821, rs876658247, rs863225377, rs63750604, rs587779014, rs63751302, rs1553648225, rs587778992, rs1553648068, rs267607866, rs267607772, rs1559553501, rs63749863, rs267607706, rs63750713, rs587779021, rs63751657, rs267607831, rs878853780, rs63750472, rs1553637293, rs1064794331, rs63751244, rs1575621506, rs63750152, rs63751653, rs1553641362, rs63750549, rs63749868, rs63750971, rs1060500699, rs587779029, rs267607771, rs1553648023, rs63750385, rs267607852, rs193922370, rs587778973, rs876660860, rs63749959, rs1553645226, rs587778997, rs63750057, rs876659226, rs267607868, rs267607843, rs587778971, rs876659608, rs63751892, rs267607744, rs267607794, rs587778938, rs63750028, rs267607887, rs786201990, rs63750206, rs1302248679, rs267607765, rs63751202, rs550890395, rs147542208, rs63749923, rs1553662622, rs587779058, rs1575536254, rs63751689, rs267607822, rs267607787, rs267607727, rs63750310, rs397514684, rs63750061, rs1553641273, rs1064795341, rs587779008, rs1553646602, rs267607788, rs267607837, rs1559551570, rs587778966, rs63749839, rs2085415927, rs1553646681, rs876660822, rs63749837, rs267607849, rs267607784, rs1553648058, rs863225378, rs1575537933, rs267607777, rs587778972, rs267607823, rs63749792, rs1064794122, rs63751118, rs1553645331, rs267607773, rs1559524405, rs786202767, rs1553664119, rs63751259, rs63751109, rs63749816, rs63750859, rs1553658104, rs267607853, rs63750823, rs587782087, rs587779024, rs267607889, rs587778914, rs267607750, rs63749981, rs63750850, rs63750034, rs587779027, rs63750691, rs1553663834, rs1060500706, rs63750749, rs863225379, rs63750386, rs587779015, rs267607903, rs1064793607, rs63750486, rs587779023, rs41542214, rs863223312, rs63750993, rs63750855, rs1553652883, rs1575414904, rs587778908, rs63749818, rs876658821, rs267607825, rs587778956, rs63750266, rs63750540, rs1575469070, rs63749986, rs1060500689, rs267607709, rs1064796057, rs63751715, rs63749906, rs587781554, rs63750547, rs63750443, rs587779001, rs863225383, rs63750375, rs1553664617, rs63749900, rs63750809, rs863225380, rs63751194, rs1481129490, rs63751021, rs267607716, rs63750710, rs2085469647, rs1057517541, rs1559553492, rs63750580, rs63751665, rs876660589, rs63751707, rs63750641, rs587778903, rs1575632112, rs63750144, rs1553647995, rs63751275, rs267607894, rs1064795515, rs1553644123, rs587778928, rs63751486, rs63750781, rs1553658009, rs63751022, rs764085979, rs267607790, rs63751472, rs63750483, rs267607795, rs1559544064, rs267607879, rs2081922847, rs878853785, rs63750453, rs267607722, rs63750978, rs63751393, rs587779010, rs63751277, rs63750035, rs1064794348, rs63750193, rs267607836, rs1559575107, rs587778942, rs63749827, rs63750561, rs587779054, rs1559554339, rs876660458, rs63751435, rs63749926, rs63751124, rs63751632, rs267607856, rs1575639851, rs587778976, rs267607832, rs281864936, rs1553648201, rs267607901, rs1553658246, rs267607745, rs587778975, rs1559521039, rs587779006, rs746536721, rs267607759, rs63750303, rs63751012, rs63750891, rs587778906, rs587779047, rs267607767, rs63750663, rs1553664702, rs267607815, rs1553653237, rs863225381, rs63751101, rs1434898623, rs63751428, rs267607799, rs281864938, rs1559588540, rs1553653115, rs587779035, rs1575449093, rs63750020, rs876659068, rs63751421, rs63750745, rs63750822, rs878853794, rs111052004, rs1553648047, rs267607751, rs63751221, rs267607845, rs267607780, rs1575537843, rs1553651299, rs786204317, rs267607789, rs587778981, rs63750726, rs63750539, rs267607760, rs1553648220, rs63750706, rs267607712, rs267607854, rs63750198, rs267607875, rs63750769, rs876661059, rs63749795, rs876660214, rs63751448, rs863225384, rs63750217, rs63750693, rs587778989, rs1064795441, rs267607774, rs63751153, rs63751480, rs63750309, rs63751615, rs756843954, rs1559558071, rs267607736, rs267607720, rs63749804, rs587778998, rs63751598, rs63750469, rs1553653084, rs864622457, rs63750316, rs267607743, rs587779045, rs587778929, rs786204318, rs63750016, rs1553665977, rs1060500707, rs267607710, rs267607791, rs587778964, rs1559574795, rs587778883, rs63750584, rs267607878, rs2083403132, rs886039423, rs267607734, rs63750677, rs63750437, rs1114167435, rs63751460, rs587778933, rs863225373, rs1553647969, rs267607898, rs63750192, rs63749867, rs1553646764, rs587778937, rs1553665683, rs63750499, rs63749916, rs1553653195, rs63750796, rs1575469505, rs587778909, rs587779950, rs1575441094, rs587779034, rs1575620443, rs1553648149, rs63751594, rs63750114, rs1060500703, rs1559578422, rs1553653037, rs63750150, rs730881734, rs886039424, rs63751255, rs63751596, rs876658915, rs587779012, rs876658657, rs587778968, rs863225376, rs121912965, rs63750059, rs63749820, rs1064794373, rs267607801, rs63750587, rs63751642, rs1057517617, rs876659681, rs267607871, rs267607850, rs63750603, rs587778958, rs1553663750, rs267607749, rs1553663159, rs1553642079, rs267607786, rs63750515, rs267607723, rs63750489, rs63750715, rs267607717, rs876658923, rs1553665866, rs587779022, rs267607867, rs63750216, rs267607842, rs1553648029, rs1553648040	N/A
Colorectal Neoplasms	hereditary nonpolyposis colorectal neoplasms	rs63750693, rs1553648225, rs587778992, rs63751094, rs1553642777, rs267607866, rs267607772, rs1559553501, rs587779039, rs267607706, rs63750903, rs267607853, rs267607783, rs63750198, rs63750713, rs193922370, rs1064794331, rs63751244, rs1575621506, rs1302248679, rs63750152, rs63751653, rs63750549, rs1060500699, rs1553648023, rs267607786, rs1060500687, rs267607884, rs63750150, rs1553645226, rs63751247, rs2085311497, rs63750339, rs587778997, rs267607805, rs63750057, rs63750517, rs267607843, rs587778971, rs876659608, rs267607744, rs267607794, rs1575395515, rs267607883, rs786201990, rs63751642, rs267607765, rs63751202, rs550890395, rs63749923, rs267607816, rs1553662622, rs63750005, rs587779058, rs63751689, rs267607822, rs1559543768, rs267607787, rs1553663981, rs63751711, rs63750781, rs587779014, rs1437454428, rs1064795341, rs587779008, rs1553646602, rs267607837, rs63750648, rs1559551570, rs41542214, rs2085415927, rs1553646681, rs267607743, rs267607849, rs1575628928, rs1553648058, rs863225378, rs267607888, rs267607777, rs63750300, rs587778972, rs267607823, rs63750540, rs63749792, rs267607778, rs63750507, rs1553648068, rs63751259, rs63749816, rs63750859, rs63750211, rs587779021, rs587779024, rs267607879, rs587781554, rs63751657, rs2080898853, rs267607889, rs878853780, rs876661159, rs587778914, rs267607753, rs267607750, rs63751662, rs63749981, rs63750865, rs63750034, rs63749868, rs63750899, rs1553663834, rs1060500706, rs63750749, rs587782087, rs63749939, rs63750385, rs63750486, rs63750610, rs63750580, rs267607735, rs587778973, rs63750855, rs63749959, rs1553652883, rs1575414321, rs587778908, rs876658821, rs267607825, rs63750266, rs587778938, rs1575469070, rs63749986, rs63750792, rs63750028, rs63749863, rs267607789, rs1060500689, rs1064796057, rs63751715, rs63750641, rs2080899985, rs878853785, rs63750547, rs63749818, rs397514684, rs63750978, rs863225383, rs63749900, rs63750581, rs587778978, rs63751101, rs1553652930, rs267607788, rs1559575107, rs2085469647, rs63750561, rs1553647894, rs876658962, rs63749990, rs267607784, rs267607869, rs63751707, rs63750809, rs63750823, rs878853792, rs1553647995, rs267607832, rs267607894, rs1064794612, rs63751118, rs63751595, rs1553644123, rs63750639, rs63751022, rs267607790, rs63751472, rs1553658104, rs63751197, rs267607795, rs587779022, rs1559544064, rs63750303, rs2081922847, rs63750453, rs267607722, rs1553644277, rs63749859, rs63751393, rs63750740, rs587779010, rs63750850, rs63751277, rs587779027, rs587778984, rs63750867, rs587779015, rs267607903, rs1064793607, rs587779031, rs1434898623, rs267607836, rs587778942, rs1553648195, rs876658339, rs63751435, rs1575414904, rs267607856, rs587778976, rs587778956, rs281864936, rs1553648201, rs1575481212, rs63750206, rs63750726, rs267607709, rs1553651130, rs587778975, rs746536721, rs267607712, rs63751012, rs63750443, rs267607732, rs63750891, rs587779001, rs1386031101, rs63751448, rs63750691, rs267607815, rs63750706, rs1559521039, rs863225381, rs63751194, rs267607713, rs267607745, rs63751428, rs267607716, rs267607759, rs1057517541, rs281864938, rs63751665, rs1553653158, rs63751608, rs1575448385, rs63750020, rs876659068, rs63750822, rs878853794, rs63750144, rs63751275, rs63751221, rs1064795515, rs267607845, rs267607780, rs1575537843, rs63749950, rs1553658009, rs764085979, rs63750539, rs1553662800, rs267607819, rs1553648220, rs63750483, rs587778882, rs267607901, rs267607854, rs878853787, rs267607875, rs63751596, rs63749795, rs863225384, rs63751045, rs587778989, rs587778968, rs63750193, rs267607774, rs63751480, rs1559597322, rs786202328, rs63750710, rs63749827, rs587779054, rs267607720, rs63751609, rs587778998, rs63749926, rs63751632, rs63751598, rs1575639851, rs864622457, rs63750316, rs1553665977, rs1060500707, rs267607710, rs267607791, rs587778964, rs1559574795, rs587779006, rs63750584, rs267607878, rs2083403132, rs1553640314, rs267607734, rs63750437, rs1114167435, rs63751460, rs587778906, rs587779047, rs587778933, rs267607767, rs63750663, rs63750035, rs1553664702, rs267607898, rs1060500688, rs63750192, rs63751421, rs63749867, rs1553646764, rs1553665683, rs587778888, rs587779035, rs1575469505, rs63750217, rs587779950, rs1575640960, rs63750603, rs111052004, rs587779034, rs1575620443, rs1553648149, rs267607768, rs1553665467, rs587778896, rs1553653037, rs730881734, rs587779037, rs876658915, rs1575640892, rs587779012, rs876658657, rs1060500703, rs587778937, rs63750059, rs63749820, rs1064795441, rs1575376458, rs63751153, rs1060500702, rs63750587, rs756843954, rs63751465, rs63749804, rs267607785, rs876659681, rs267607871, rs267607850, rs878853777, rs1553663750, rs267607749, rs1253275403, rs1064794267, rs587779045, rs1416171624, rs1064792918, rs1553642079, rs267607760, rs63751606, rs63750515, rs1559524070, rs267607852, rs2083405700, rs267607723, rs63750489, rs63750715, rs267607717, rs2082517369, rs63750677, rs1553665866, rs267607867, rs63750216, rs72481822, rs1553647969, rs267607803, rs1553662753, rs63750864, rs1575376830, rs267607742, rs63751137, rs1559539489, rs786203456, rs63751615, rs587779055, rs1559558071, rs63749995, rs63749916, rs1553653195, rs63750796, rs1466223609, rs587780683, rs1575449402, rs63751592, rs878853778, rs587778883, rs267607726, rs267607718, rs869312767, rs587778913, rs1553638868, rs267607892, rs1064793823, rs1575621386, rs63750866, rs587778930, rs1553641362, rs587778967, rs863224480, rs587778983, rs1060500698, rs63751310, rs587778894, rs63750114, rs267607906, rs1060500692, rs1559578422, rs63751015, rs1248251121, rs1559530646, rs63750948, rs2085310643, rs886039424, rs267607821, rs863225377, rs63750604	N/A
Endometrial carcinoma	endometrial carcinoma	rs63750855, rs63751711, rs267607789, rs63750781	N/A
Lynch syndrome	Lynch syndrome 1	rs267607900, rs63751615, rs63751202, rs267607852, rs147542208, rs1559543768, rs63750648, rs587778938, rs1575536219, rs267607771, rs267607727, rs193922370, rs267607884, rs63751247, rs63750610, rs63750266, rs63749863, rs1553666143, rs63751711, rs63750971, rs63750781, rs267607903, rs63749990, rs63751022, rs267607805, rs63751197, rs63750453, rs63750580, rs2081714489, rs2085459433, rs63751657, rs878853785, rs63749818, rs63750978, rs63750193, rs267607713, rs63750561, rs2082051355, rs267607832, rs63750303, rs2083404326, rs587778998, rs111052004, rs587778950, rs267607789, rs267607734, rs63751448, rs63750706, rs63751194, rs2084643841, rs1253275403, rs63750206, rs1575641243, rs2084645057, rs1553653195, rs267607901, rs267607760, rs267607706, rs63751596, rs267607767, rs72481822, rs2085415475, rs63750603, rs587778967, rs63751460, rs63750693, rs2085472296, rs267607816, rs587779950, rs63750150, rs63751662, rs267607738, rs876658657	N/A
Lynch Syndrome	lynch syndrome, Lynch-like syndrome	rs587778955, rs63751302, rs587778938, rs587779043, rs63749863, rs63751642, rs267607765, rs63750319, rs72481822, rs63749923, rs587779058, rs876659681, rs63751689, rs587779021, rs267607822, rs267607877, rs63751657, rs267607787, rs587778978, rs587778959, rs63750472, rs193922370, rs63749845, rs267607746, rs63750212, rs63750282, rs63749868, rs267607798, rs63750971, rs587779029, rs267607771, rs267607888, rs63750385, rs587779008, rs587779041, rs267607837, rs63751662, rs267607852, rs63749838, rs587778980, rs587778962, rs587779052, rs63750305, rs587778973, rs876660860, rs63750098, rs63749959, rs267607849, rs587779033, rs267607868, rs1553648058, rs63751892, rs267607777, rs63750300, rs63751691, rs1553664506, rs587778972, rs63750540, rs267607778, rs267607742, rs63751439, rs63750028, rs63751615, rs587779040, rs63751259, rs63749816, rs63750859, rs63750211, rs267607853, rs587779036, rs267607879, rs587781518, rs267607889, rs587778960, rs63750547, rs267607719, rs876661159, rs587778914, rs267607753, rs1553666143, rs63749981, rs63750865, rs63750034, rs587778931, rs63750061, rs63750899, rs1416171624, rs63750131, rs63750749, rs587778946, rs63749939, rs267607903, rs587778898, rs63750486, rs267607788, rs587778966, rs63749839, rs63749829, rs63750993, rs63750580, rs267607735, rs63750855, rs63749837, rs267607784, rs587778908, rs63750517, rs267607825, rs63751677, rs63751131, rs267607896, rs63751118, rs63749986, rs63750792, rs267607773, rs1559553501, rs267607789, rs63751022, rs63751109, rs63749965, rs63751715, rs63750641, rs63750823, rs63749792, rs587778884, rs63750978, rs63751081, rs63750850, rs63751891, rs587779027, rs1553642657, rs63749900, rs63750581, rs63750386, rs587779015, rs1559544297, rs587778899, rs587779023, rs41542214, rs63751616, rs63751247, rs63750561, rs63749818, rs267607869, rs63751707, rs587778932, rs63750809, rs878853792, rs587778956, rs63751087, rs1553647995, rs281864936, rs267607750, rs267607894, rs63751595, rs63750639, rs63750206, rs267607715, rs267607709, rs267607790, rs63751472, rs267607795, rs587778926, rs587779022, rs63749906, rs587781554, rs63750303, rs587778885, rs63750310, rs267607722, rs1553642492, rs63749859, rs63751393, rs63751711, rs63751710, rs63751277, rs1553642698, rs63750740, rs63750375, rs587778984, rs63750658, rs63751194, rs587779031, rs1481129490, rs587778900, rs63750081, rs267607836, rs267607881, rs587778942, rs63750819, rs63750610, rs63751665, rs267607716, rs587778881, rs63751709, rs63751266, rs587778903, rs1575552157, rs63750144, rs63751275, rs63751468, rs1553648201, rs63751596, rs267607779, rs63750938, rs587778928, rs587779024, rs587778944, rs63750781, rs1553664119, rs63750726, rs1559539068, rs63750507, rs587778975, rs267607856, rs63750542, rs267607832, rs63751012, rs587778915, rs63750891, rs587778905, rs587779047, rs1553645256, rs63750663, rs63750691, rs63750706, rs63750483, rs63751240, rs63751101, rs267607745, rs63751428, rs587779042, rs1559575107, rs267607884, rs63749827, rs281864938, rs587779054, rs63749944, rs63749813, rs587778998, rs63749926, rs63751608, rs63750020, rs63751124, rs63751632, rs63750036, rs63750822, rs878853794, rs111052004, rs63751221, rs267607845, rs267607780, rs63750293, rs587778950, rs63749950, rs63750539, rs267607819, rs63750533, rs587779006, rs267607759, rs587778882, rs267607854, rs267607875, rs63751620, rs63749795, rs587778996, rs587778906, rs587778953, rs267607767, rs863225383, rs1553664702, rs63750484, rs63751200, rs63750281, rs587778947, rs63751045, rs587778989, rs267607774, rs267607799, rs63751480, rs63750710, rs587778887, rs267607720, rs63751435, rs587779019, rs63751609, rs587779035, rs63751598, rs63750824, rs63751421, rs1553651429, rs587778957, rs1553648047, rs267607751, rs63750316, rs267607743, rs63751613, rs63751486, rs587778981, rs267607710, rs267607791, rs587778922, rs267607760, rs63750745, rs267607878, rs267607712, rs63751651, rs267607809, rs63750769, rs63750434, rs63750437, rs63751460, rs587779009, rs63751639, rs587778933, rs63750035, rs267607898, rs587778964, rs63749867, rs63751153, rs63750309, rs63750499, rs1057517541, rs587778888, rs267607736, rs63749956, rs63749804, rs63751685, rs63750192, rs267607851, rs63750603, rs63750469, rs587779050, rs63751704, rs587778912, rs63751415, rs587779045, rs587778929, rs267607768, rs63750016, rs63751652, rs63750317, rs587778896, rs746536721, rs587778948, rs267607831, rs587778883, rs587779037, rs587778979, rs63750736, rs63750677, rs587779012, rs587778954, rs587779013, rs587778937, rs63750059, rs63749820, rs35001569, rs1060500702, rs267607786, rs63749828, rs63751465, rs63750962, rs63749916, rs267607816, rs63750796, rs587778909, rs267607871, rs267607850, rs63751659, rs587778911, rs878853777, rs1553647795, rs63750420, rs63750482, rs267607749, rs1253275403, rs267607844, rs63751594, rs267607702, rs587778982, rs63750115, rs63750645, rs63750114, rs63751705, rs267607815, rs63751606, rs63750150, rs267607794, rs63750515, rs267607723, rs63751255, rs63750489, rs63750715, rs267607717, rs587778918, rs267607754, rs63750071, rs267607867, rs63750216, rs1553647928, rs587778968, rs63750217, rs267607728, rs63750693, rs267607897, rs587778949, rs267607801, rs63750500, rs63751283, rs587779055, rs1559558071, rs587778889, rs267607732, rs63749995, rs267607729, rs267607806, rs63750764, rs63751592, rs587778958, rs267607805, rs267607726, rs267607718, rs869312767, rs587778913, rs267607892, rs587778939, rs63751431, rs63750866, rs587778930, rs63751653, rs863224480, rs63749979, rs587778983, rs63751310, rs587778894, rs63750906, rs267607792, rs587778924, rs63750908, rs63751015, rs63750948, rs63749876, rs267607755, rs63750052, rs267607821, rs267607842, rs1553648029, rs63750604, rs267607906, rs587778934, rs11541859, rs1553648225, rs587778992, rs267607699, rs63751094, rs267607866, rs587778923, rs267607772, rs267607883, rs587779039, rs63751301, rs267607706, rs63750903, rs63750005, rs267607783, rs63750713, rs267607873, rs63751396, rs63751244, rs63750748, rs63750152, rs63750889, rs63751637, rs267607739, rs587778925, rs63750380, rs63751607, rs587778961, rs587778919, rs587779018, rs63750339, rs587778997, rs63750464, rs587779032, rs63750057, rs587778971, rs587779014, rs121912965	N/A
Colonic Neoplasms	Colonic neoplasm	rs267607789	N/A
gastric cancer	Gastric cancer	rs147542208, rs267607719, rs587782087, rs63751711, rs587779047, rs63751101, rs1553653158, rs63750706, rs267607734	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Bile Duct Neoplasms	Bile duct cancer	N/A	N/A	ClinVar
Breast Cancer	Malignant tumor of breast, breast cancer	N/A	N/A	ClinVar, GenCC
hereditary cancer	Hereditary cancer	N/A	N/A	ClinVar
lung cancer	Lung cancer	N/A	N/A	ClinVar
ovarian cancer	Ovarian cancer	N/A	N/A	ClinVar
Ovarian cancer	ovarian cancer	N/A	N/A	GenCC
Pancreatic Neoplasm	malignant pancreatic neoplasm	N/A	N/A	GenCC
Prostate cancer	prostate cancer	N/A	N/A	GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Aberrant Crypt Foci	Associate	25314065, 38554332
Actinic cheilitis	Associate	27579741
Adenocarcinoma	Associate	15354187, 16826164, 17203532, 21457162, 22825585, 23469219, 24518125, 27880934, 29972732, 30636012, 30946937, 32943104, 37147951
Adenocarcinoma	Inhibit	23648460
Adenocarcinoma Mucinous	Associate	15812832, 16118624, 26097592, 30173239, 32641744
Adenocarcinoma of Lung	Associate	22865300, 25823662, 33608032
Adenoma	Associate	11710827, 11839719, 12740349, 17143260, 18214062, 18360351, 20653064, 21154739, 24925148, 25091577, 25216220, 26883113, 30172913, 33605613, 34092617
Adenoma	Inhibit	28752838, 29976631
Adenoma Islet Cell	Associate	10411935, 17449906, 18615680, 23370766, 24518818, 26512054, 26883113
Adenoma Villous	Associate	20653064
Adenomatous Polyposis Coli	Associate	12740349, 15526363, 21070872, 21641392, 22510757, 23246972, 24310308, 28752838, 30324682
Adrenocortical Carcinoma	Associate	37745701
Ameloblastoma	Associate	29476681
Angelman Syndrome	Associate	28473583
Anodontia	Associate	11592777, 14726676, 18451217, 19109866, 19351759, 19761686, 20052760, 20444249, 20967208, 25341111, 36983044, 39778225
Anodontia	Inhibit	27938333
Anophthalmia with pulmonary hypoplasia	Associate	36717525, 37200008
Anus Neoplasms	Associate	36128324
Astrocytoma	Associate	15367334
Astrocytoma	Inhibit	24073290
Atresia of small intestine	Associate	12627520, 14645346
Auditory Perceptual Disorders	Associate	11416201
Azoospermia	Associate	18583429, 22594646
Barrett Esophagus	Associate	29972732
Biliary Tract Neoplasms	Associate	12107841, 15471559, 17465213, 29360550
Bloom Syndrome	Associate	11691925
Bowen's Disease	Inhibit	34590599
Brain Diseases	Associate	28466842
Brain Neoplasms	Associate	15161053, 19995443, 8592341
Brain Neoplasms	Stimulate	39910726
Breast Diseases	Associate	34261476
Breast Neoplasms	Associate	10098729, 11112663, 16756717, 17959715, 18701435, 19016758, 19644562, 20717847, 23164213, 23755158, 23852586, 24884479, 26527317, 27902704, 28229982, 30481381, 31358837, 32019277, 33184404, 33560870, 34261476, 34667028, 34866136, 36604691, 37202799, 37460658, 37643636, 40508121
Breast Neoplasms	Stimulate	23755158
Brenner Tumor	Associate	25695547
Calcinosis Cutis	Associate	33608032
Carcinogenesis	Associate	10037723, 10550333, 12115348, 14688830, 16607377, 18470905, 18615680, 19494183, 20653064, 21709441, 23240038, 24518125, 30430425, 31209889, 31554352, 34936649, 37657688, 38003003, 9657101
Carcinoma	Associate	25712765
Carcinoma Adenosquamous	Associate	30173239
Carcinoma Basal Cell	Associate	28667494, 30089731
Carcinoma Endometrioid	Associate	10746679, 16323174, 21709441, 23599155, 29210800, 31855955, 32060377, 33256706, 37380216
Carcinoma Hepatocellular	Associate	11332201, 12592365, 15918183, 17690210, 22144422, 33082400, 35853969, 9657101
Carcinoma in Situ	Associate	18370958
Carcinoma Intraductal Noninfiltrating	Associate	20056007
Carcinoma Large Cell	Inhibit	18370958
Carcinoma Large Cell	Associate	18594535
Carcinoma Medullary	Inhibit	14657958, 24437456
Carcinoma Merkel Cell	Associate	26981779, 37350641
Carcinoma Non Small Cell Lung	Associate	12639995, 17426788, 18594535, 20458443, 22865300, 23539435, 26191250, 33574476
Carcinoma Non Small Cell Lung	Inhibit	18370958
Carcinoma Ovarian Epithelial	Associate	17595760, 24936796, 25192888
Carcinoma Pancreatic Ductal	Associate	23029359, 26226846, 32113160, 35205366
Carcinoma Papillary	Associate	21358597
Carcinoma Renal Cell	Associate	12496483, 24874052, 25528216
Carcinoma Squamous Cell	Associate	22865300, 29973234, 34590599
Carcinosarcoma	Associate	21572397
Central Nervous System Neoplasms	Associate	38139220
Cholangiocarcinoma	Associate	24186137
Chromosomal Instability	Associate	16501564, 17474983, 17476321, 17724798, 20052760, 25314065
Chromosome Deletion	Associate	17189986
Colitis Ulcerative	Associate	10673298, 9230812
Colonic Diseases	Associate	23246972, 36983044
Colonic Neoplasms	Inhibit	14657958, 16356174, 29976631
Colonic Neoplasms	Associate	15249596, 17203532, 19995443, 21457162, 23414134, 23469219, 23729658, 23958088, 24518125, 25908636, 28819720, 29672549, 29929473, 30387329, 30613919, 31116268, 37887553, 39724851
Colonic Polyps	Associate	18214062, 23246972, 27930579
Colorectal Neoplasms	Associate	10323887, 10389971, 10411935, 10468602, 10507723, 10535979, 10544224, 10639144, 10673298, 10732761, 10734209, 10793088, 10896919, 10922385, 10978352, 11104559, 11112663, 11304573, 11333868, 11358903, 11549606, 11720433, 11772966, 11839723, 11870540, 11925604, 11935297, 12177781, 12373605, 12377806, 12569385, 12578960, 12627505, 12920072, 14504054, 14688830, 14716824, 14726676, 14960518, 15118395, 15122305, 15138486, 15161007, 15217520, 15222003, 15475387, 15713769, 15786548, 15845562, 15856472, 15879014, 15937084, 15991064, 16015629, 16106253, 16423994, 16425354, 16436636, 16636019, 16807412, 16826164, 16830052, 16874859, 17117178, 17177835, 17203532, 17222328, 17267619, 17461458, 17465256, 17474983, 17476321, 17569143, 17591929, 17636402, 17717427, 17724798, 17909015, 17923762, 17962726, 18022218, 18029474, 18061181, 18069769, 18186571, 18214062, 18237388, 18257912, 18405947, 18435933, 18451217, 18523027, 18547406, 18556776, 18615680, 18813836, 18834226, 18843035, 18922920, 18941461, 18990764, 19109866, 19127559, 19154585, 19164452, 19241144, 19248199, 19284389, 19383812, 19404924, 19723918, 19737982, 19752738, 19930554, 20167975, 20351277, 20444249, 20473912, 20489114, 20653064, 20655395, 20709753, 20717847, 20727894, 20803768, 20858721, 20864636, 20967208, 20978114, 21034533, 21056691, 21102416, 21157497, 21247423, 21417908, 21615986, 21645411, 21752297, 21836060, 22144422, 22228973, 22294770, 22331944, 22426235, 22496206, 22714864, 22763379, 22810696, 22875147, 22878509, 22899370, 22918162, 22933731, 22949387, 23047549, 23112559, 23226332, 23240038, 23255516, 23370766, 23484096, 23539450, 23573243, 23621208, 23817394, 23878352, 24090359, 24317816, 24338422, 24385213, 24415879, 24448331, 24484585, 24500500, 24595079, 24643686, 24743384, 24815484, 24829445, 24852431, 24869613, 24968821, 25227796, 25249451, 25280751, 25305506, 25421847, 25437057, 25479140, 25557234, 25561800, 25576161, 25663779, 25769449, 25782445, 25815725, 25892863, 26053027, 26097592, 26104511, 26109217, 26142736, 26247575, 26248088, 26510091, 26657901, 26862732, 26866578, 26883113, 26884349, 26895986, 26900293, 27026680, 27115207, 27121310, 27152634, 27173243, 27273229, 27404452, 27770786, 27799157, 27880934, 27938333, 27978560, 28195176, 28293327, 28304185, 28411881, 28445943, 28485341, 28514183, 28591715, 28616688, 28651545, 28675510, 28754778, 28772289, 28912133, 29237405, 29341452, 29575718, 29645364, 29661177, 29672549, 29723603, 29869456, 29878286, 29967336, 30108227, 30166615, 30172913, 30324682, 30539002, 30613919, 30643016, 30693488, 30723092, 30723297, 30829280, 30856214, 31199922, 31200767, 31209889, 31220642, 31386297, 31607698, 31769227, 31779681, 31792356, 32007537, 32051040, 32321971, 32358694, 32634176, 32641106, 32661327, 32914570, 33077534, 33414136, 33452216, 33514701, 33631043, 33636974, 33655327, 33872400, 33903664, 34034807, 34091457, 34092617, 34202689, 34243735, 34269315, 34364165, 34911717, 35074970, 35108246, 35143042, 35237889, 35373289, 35477541, 35709138, 35866738, 36044719, 36593122, 36717525, 36736685, 36872334, 36983044, 37022939, 37023721, 37270516, 37284845, 37314251, 37319387, 37433431, 37572151, 37605616, 37642081, 37643636, 37746995, 37914736, 38003003, 39207001, 40004106, 40004511, 40295928, 8805366, 8863153, 8880570, 8932328, 9004127, 9032648, 9311737, 9618505, 9671741, 9709044, 9718327, 9736731
Colorectal Neoplasms	Inhibit	11851879, 14508843, 29950348, 37350751
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	10037723, 10051005, 10507723, 10712226, 10934138, 11112663, 11231323, 11416201, 11570578, 11574484, 11733361, 11854906, 11925604, 12057899, 12404277, 12436451, 12513688, 12627520, 12808326, 14970868, 15098177, 15118395, 15222003, 15309712, 15354210, 15655560, 15731775, 15786548, 15858146, 15864295, 15872200, 15918206, 15991064, 16237223, 16323174, 16426447, 16521201, 16810763, 16826164, 16830052, 16873062, 17203532, 17440981, 17453009, 17473388, 17720936, 18257912, 18383312, 18405947, 18556772, 18556776, 18936738, 19109866, 19117025, 19164453, 19241144, 19383812, 19671196, 19672700, 19690142, 19723918, 19752738, 19863800, 19893772, 19995443, 20034658, 20052760, 20473912, 20489114, 20533529, 20640520, 20858721, 20864636, 20937110, 20978114, 21034533, 21070872, 21145788, 21227399, 21233718, 21247423, 21354521, 21671475, 21769135, 21778331, 21785361, 21791569, 22144422, 22274583, 22355048, 22371642, 22426235, 22581703, 22763379, 22940821, 22949387, 23100212, 23112559, 23354017, 23403630, 23408351, 23484096, 23523604, 23573243, 23621208, 23729658, 23888949, 23896635, 24084575, 24090359, 24244552, 24310308, 24362816, 24415879, 24518125, 24710284, 24743384, 24771847, 24802709, 24829445, 24933100, 25133505, 25194673, 25204323, 25280751, 25437057, 25557234, 25712765, 25745978, 25762362, 25782445, 25816162, 25910169, 25987035, 26053027, 26109217, 26249686, 26437257, 26485756, 26552419, 26657901, 26866578, 27152634, 27173243, 27273229, 27300758, 27363726, 27443514, 27601186, 27938333, 27978560, 28059100, 28103454, 28471861, 28489507, 28514183, 28668538, 28701629, 28772289, 28832568, 28933000, 29088233, 29288294, 29341452, 29472252, 29505604, 29559741, 29568967, 29575718, 29645364, 29672549, 29723603, 29790873, 29929473, 30108227, 30161022, 30166615, 30238922, 30283143, 30289396, 30324682, 30376427, 30539002, 30543514, 30614234, 30623411, 30653781, 30693488, 30772826, 30829280, 30946512, 31046708, 31104363, 31160353, 31207149, 31297992, 31337882, 31469860, 31647837, 31697235, 31779681, 31780564, 31855955, 31932681, 32076465, 32090079, 32197529, 32273268, 32376735, 32490589, 32587781, 32606442, 32611331, 32634176, 32661327, 32804882, 32857459, 32885271, 32917768, 33058565, 33369189, 33393477, 33630411, 33634735, 33746161, 33839100, 33872400, 33903664, 33983630, 34039291, 34091457, 34140662, 34172528, 34285288, 34302852, 34397043, 34431253, 34499134, 34545850, 34678156, 34911717, 34998373, 35012974, 35197584, 35205366, 35713195, 36232851, 36291559, 36421850, 36454741, 36518767, 36548287, 36571259, 36593122, 36691871, 36736685, 36760167, 36833239, 36833268, 36983044, 37023721, 37076313, 37086325, 37101184, 37224528, 37350751, 37380216, 37433431, 37643636, 37743058, 37798659, 37914736, 37919876, 37940339, 38030917, 38061582, 38255924, 38280988, 38297350, 38433331, 39255351, 39320958, 39741348, 40295928, 7616541, 7726159, 7942843, 8571956, 8613431, 8649412, 8766523, 8863153, 8880570, 8910404, 8940269, 9234704, 9245993, 9311737, 9328148, 9709044, 9718327, 9736731
Colorectal Neoplasms Hereditary Nonpolyposis	Inhibit	16423994, 22017758, 22321913, 30723092, 32102509
Colorectal Neoplasms Hereditary Nonpolyposis	Stimulate	29587389, 8808596
Crohn Disease	Associate	9230812
Cushing Syndrome	Associate	28701629
Dermatitis	Associate	25252713
Diabetes Mellitus Type 1	Associate	29990590
DiGeorge Syndrome	Associate	14681306
DNA Repair Deficiency Disorders	Associate	32376735
Drug Related Side Effects and Adverse Reactions	Associate	18941461, 9750018
Duodenitis	Associate	24518818
Dysplastic Nevus Syndrome	Associate	15832775
Dystonic Disorders	Associate	23621208
Early Onset Glaucoma	Associate	37270516
Endometrial Hyperplasia	Associate	10550333, 30430425, 34499134, 37386498
Endometrial Hyperplasia	Inhibit	12801268
Endometrial Neoplasms	Associate	10323887, 10550333, 10746679, 12115348, 12732731, 14504054, 15118395, 15937084, 16323174, 16701802, 16928264, 17003396, 17177835, 19494183, 20034658, 20533529, 20727894, 20937110, 21093899, 22331944, 22635031, 23255516, 23385444, 23702729, 23888949, 24084575, 24323032, 25400828, 25745978, 25804231, 26552419, 27327152, 28220037, 28440489, 28514183, 28709704, 28754778, 28772289, 28946809, 29210800, 29228451, 29559741, 29659608, 30161022, 30238922, 30277666, 30430425, 30443012, 30772826, 30926882, 30935961, 31469860, 31554352, 31686413, 31855955, 31932681, 32060377, 32376735, 32587781, 32641106, 33257847, 33449452, 33452216, 33693762, 33755781, 34431253, 34678156, 34875102, 35226658, 35775705, 35849120, 36142641, 36293153, 36482191, 36736685, 36893489, 37380216, 37663290, 38003003, 38061582, 38433331, 39296440, 40058269, 9709044, 9750018
Endometrial Neoplasms	Inhibit	14508843, 16343186, 35595431
Epilepsy Partial with Variable Foci	Associate	10861263
Esophageal Squamous Cell Carcinoma	Associate	23244153, 26683359, 37009661
Esophagitis	Associate	21045259, 22870241
Farber Lipogranulomatosis	Associate	24802709
Folate Malabsorption Hereditary	Associate	34502300
Gallbladder Neoplasms	Associate	17465213, 31068195, 33328484
Gastritis	Associate	14507661, 23716983
Gastrointestinal Neoplasms	Associate	10896919, 14601090, 31358837
Gastrointestinal Stromal Tumors	Associate	31273885
GATA2 Deficiency	Associate	12823347
Genetic Diseases Inborn	Associate	16237223, 29790873, 31104363
Giant Cell Tumors	Associate	17203532
Glioblastoma	Associate	24105770, 24259277, 28371827, 28912153, 32193690, 34848827
Glioma	Associate	24723567
Glucosephosphate Dehydrogenase Deficiency	Associate	34431253, 40058269
Glycogen Storage Disease Type IV	Associate	19603033
Hamartoma	Associate	32390703
Head and Neck Neoplasms	Associate	16569647, 20412120
Helicobacter Infections	Associate	23716983, 39320958
Hepatitis B	Associate	31610173
Hereditary Breast and Ovarian Cancer Syndrome	Associate	10098729, 25712765, 32019277, 32039725, 33484353, 33630411
Hereditary pancreatitis	Associate	32113160
HIV Infections	Associate	32207245
Hodgkin Disease	Associate	17959715
Huntington Disease	Associate	26232222, 38498709
Hypersensitivity Immediate	Inhibit	31686413
Hypertelorism with esophageal abnormality and hypospadias	Associate	18480061
Hypotrichosis	Associate	34545858
Hypoxia Brain	Inhibit	22903042
Immunologic Deficiency Syndromes	Associate	37196219
Immunologic Deficiency Syndromes	Inhibit	37838086
Infections	Associate	23716983
Infertility	Associate	18706547
Infertility Male	Associate	18706547, 22594646
Inflammatory Bowel Diseases	Associate	9230812
Intestinal Diseases	Associate	31937549
Intestinal Neoplasms	Associate	19181186
Intestinal Polyposis	Associate	16469793, 25204323
Intestinal Polyps	Associate	25561800
Keratoacanthoma	Associate	16826164
Keratosis Actinic	Inhibit	34590599
Kidney Neoplasms	Associate	22331944
Laryngeal Neoplasms	Associate	15083191, 17641416
Leigh Disease	Associate	38003003
Lesch Nyhan Syndrome	Associate	26512054
Leukemia	Associate	17889038
Leukemia	Inhibit	9057658
Leukemia Lymphoid	Inhibit	9057658
Leukemia Lymphoma Adult T Cell	Associate	15682421
Leukemia Myeloid Acute	Associate	11972518, 17959715, 20671427, 23349304, 31638252
Leukoplakia	Associate	17219447
Liposarcoma	Associate	35002543
Liver Diseases	Associate	24186137
Lung Neoplasms	Associate	23539435, 31232917, 37147951, 37838086
Lupus Erythematosus Systemic	Associate	27492607
Lymphatic Metastasis	Associate	18470905, 24415879, 26191250, 28230037
Lymphoma Follicular	Associate	25596266
Lymphoma Large B Cell Diffuse	Associate	21156845
Lymphoma Non Hodgkin	Associate	26392358
Melanoma	Associate	15526363, 15832775, 16619000, 16619529
Melanoma Cutaneous Malignant	Associate	15832775
Meningeal Neoplasms	Associate	32711494
Meningioma	Associate	22930430, 28705114, 36975468
Menstruation Disturbances	Associate	30866919
Microsatellite Instability	Associate	10393852, 10468602, 10468860, 10535979, 10732761, 10746679, 10793088, 10861262, 10934138, 10980110, 11127266, 11140703, 11376026, 11592777, 11772966, 11851879, 11870538, 11920458, 11935297, 12115348, 12521125, 12627520, 12679904, 12732731, 12741892, 12808326, 15133479, 15154009, 15672285, 15812832, 15856472, 15967110, 15991278, 16015629, 16080527, 16106253, 16134765, 16253017, 16309235, 16436636, 16619000, 17031395, 17177835, 17219447, 17923762, 17962726, 17962810, 18214062, 18257912, 18615680, 18922920, 18941461, 18990764, 19028998, 19116039, 19127559, 19154585, 19241144, 19690142, 19742317, 20516444, 20655395, 20803768, 20967208, 21081928, 21228925, 21645411, 21732224, 21844009, 22278153, 22302899, 23011871, 23240038, 23246972, 23370766, 23414134, 23648460, 24969397, 25224212, 25557234, 25576161, 25804231, 26247523, 26883113, 26884349, 29659608, 29976631, 30121009, 30643016, 31068195, 31292272, 31358837, 31530839, 31769227, 32144630, 32641106, 33303966, 33549857, 33608032, 34024817, 34034807, 34761625, 35169225, 35849120, 35877698, 35900537, 36128324, 37022939, 37838086, 38003003, 39623302, 39778225, 40004511, 9618505
Microsatellite Instability	Inhibit	11710827, 11870540, 12833454, 15492759, 16202134, 16619551, 27938333
Mitochondrial Diseases	Associate	31641109
Mouth Diseases	Inhibit	16048395
Mouth Diseases	Associate	23539450, 35143042
Muir Torre Syndrome	Associate	15662714, 16826164, 18065960, 19028998, 19069357, 24969397, 25197397, 25213213, 9634524
Multiple Myeloma	Associate	16607377
Multiple Organ Failure	Associate	34091457
Mycosis Fungoides	Associate	14632210
Nasopharyngeal Carcinoma	Associate	17201146
Neoplasm Invasiveness	Inhibit	33302424
Neoplasm Metastasis	Associate	19644562, 28411881, 30856214, 32711494, 33608032, 33655327, 34140335
Neoplasms	Associate	10037723, 10446111, 10468860, 10518572, 10535979, 10629076, 10748105, 10896919, 10922385, 10978352, 10980110, 11140703, 11161381, 11332201, 11358903, 11376026, 11416201, 11524701, 11788563, 11809901, 12057899, 12115348, 12177776, 12427779, 12480914, 12480922, 12496483, 12592365, 12627505, 12639995, 12651628, 12732731, 12741892, 12823347, 14501508, 14508843, 14688830, 15016321, 15138486, 15161007, 15354210, 15475387, 15476557, 15662714, 15786548, 15831908, 15856472, 15872200, 15918183, 15942635, 15967110, 15991064, 15991278, 16015629, 16106253, 16224153, 16237216, 16256791, 16323174, 16356174, 16421593, 16423994, 16436636, 16475210, 16497872, 16607377, 16619000, 16619529, 16619569, 16701802, 16773633, 16827152, 16995940, 17031395, 17177835, 17189986, 17201146, 17453009, 17465256, 17473388, 17595760, 17623056, 17636402, 17717427, 17724798, 17889038, 17909015, 17921385, 17923762, 17959715, 18022218, 18069769, 18237388, 18307539, 18316853, 18594535, 18615680, 18718023, 18781192, 18790734, 18813836, 18936738, 18951447, 18951449, 19028998, 19069357, 19109866, 19116039, 19117505, 19127559, 19154585, 19164452, 19181186, 19237629, 19241144, 19267393, 19494183, 19644562, 19672700, 19690142, 19737982, 19855373, 19863800, 19930554, 20052760, 20179148, 20227038, 20412120, 20458443, 20473912, 20489114, 20516444, 20717847, 20727894, 20858721, 21045259, 21070872, 21102416, 21157497, 21225233, 21358597, 21659424, 21671475, 21679278, 21840485, 21911971, 22068818, 22144422, 22246327, 22274583, 22295155, 22426235, 22502664, 22549947, 22714864, 22763379, 22825585, 22878509, 22899370, 22918162, 22930430, 23029359, 23244153, 23255516, 23403630, 23599155, 23729658, 23803092, 23896635, 23935509, 24084575, 24302565, 24323032, 24400091, 24408015, 24448331, 24475022, 24565683, 24642620, 24723567, 24802709, 24933100, 24968821, 25192888, 25280751, 25305506, 25314065, 25421847, 25557234, 25576161, 25576899, 25648363, 25712765, 25782445, 25815725, 25987035, 26098903, 26191250, 26191323, 26275295, 26392358, 26510091, 26552419, 26610810, 26657901, 26681312, 26810771, 26848797, 26866578, 26883113, 26895986, 26898652, 27013479, 27019099, 27064343, 27121310, 27152634, 27261338, 27268635, 27300758, 27302833, 27327152, 27629256, 27756888, 27856273, 27880934, 28059100, 28195176, 28230037, 28293327, 28471861, 28473583, 28485341, 28591715, 28640387, 28709704, 28748002, 28848075, 29053185, 29053726, 29329588, 29341452, 29360550, 29505604, 29706640, 29882921, 29930328, 29955148, 30068706, 30458818, 30580288, 30613919, 30665466, 30693488, 30850667, 30856214, 30871143, 30926882, 31006665, 31104363, 31116268, 31160353, 31207149, 31209889, 31273885, 31292272, 31337882, 31358837, 31386297, 31554352, 31779681, 31783044, 31792356, 31811196, 31830689, 31848314, 31922567, 32019277, 32144630, 32358694, 32376735, 32634176, 32658872, 32857459, 32859265, 32914570, 32941469, 32957448, 33058565, 33082400, 33162477, 33199489, 33256706, 33303966, 33393477, 33431630, 33434509, 33449452, 33452216, 33574476, 33630411, 33662372, 34091457, 34172528, 34243735, 34261476, 34285288, 34397043, 34502300, 34657620, 34678156, 35058282, 35143042, 35169225, 35197584, 35373289, 35682732, 35713195, 35866738, 36044719, 36138078, 36215471, 36251352, 36411032, 36454741, 36529447, 36736685, 36833239, 36893489, 37086325, 37101184, 37147951, 37200008, 37224528, 37270516, 37314251, 37380216, 37433431, 37605616, 37643636, 37746995, 38003003, 38105176, 38178127, 40058269, 40076915, 7479796, 8592341, 8863153, 8932328, 9245993, 9328148, 9736731
Neoplasms	Inhibit	10783165, 11549606, 11710827, 12957287, 15161053, 15471559, 17764565, 18370958, 19383812, 19448592, 20924129, 21347319, 21599969, 22228973, 22773873, 23643670, 23817394, 24073290, 24252461, 24317816, 25400828, 25421847, 25908636, 27077911, 30720243, 33514701, 9671741
Neoplasms Cystic Mucinous and Serous	Associate	22811390
Neoplasms Multiple Primary	Inhibit	18942304
Neoplasms Squamous Cell	Associate	23244153, 25115387
Neoplastic Syndromes Hereditary	Associate	18790734, 20533529, 26761715, 30580288, 31697235, 32019277, 32090079, 36691871, 36833268, 37350751, 38255924, 8940269
Neural Tube Defects	Associate	22234160
Neurofibromatosis 1	Associate	17440981, 17889038
Nevus	Associate	24926095
Nevus Pigmented	Associate	16619000
NOG Related Symphalangism Spectrum Disorder	Associate	11161395
Oligospermia	Associate	22594646
Optic Nerve Glioma	Inhibit	24073290
Oral Submucous Fibrosis	Associate	38050610
Ovarian Diseases	Associate	20072951, 26657901
Ovarian Neoplasms	Associate	10408835, 10577927, 11238060, 11477138, 11592780, 14601090, 14631366, 16080527, 16773633, 16879751, 16941012, 18405947, 18723338, 20072951, 22144422, 22249249, 22331944, 26275295, 26718727, 28772289, 29063235, 29889250, 32859265, 32917768, 33560870, 36411032, 37940339, 40076915, 9579428
Pancreatic Carcinoma	Associate	34895278
Pancreatic Neoplasms	Associate	14501508, 19237629, 21212431, 22331944, 24534469, 24802709, 25479140, 26440929, 27449771, 27732944, 27856273, 28767289, 29053185, 29922827, 32113160, 32658872, 34625576, 35205366, 35227607, 36717525, 36896836
Paraphilic Disorders	Inhibit	28752838
Paraproteinemias	Associate	16607377
Persistent Mullerian duct syndrome	Inhibit	28752838
Peutz Jeghers Syndrome	Associate	32390703
Pituitary Neoplasms	Associate	28701629
Polycythemia Vera	Associate	32606442
Polyps	Associate	11839573, 15016754, 16469793, 22510757, 23539450, 24925057, 25314065, 26510091, 26898652, 28533659, 30458818, 32358694, 32914570
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	14510941, 17959715
Primary Ovarian Insufficiency	Associate	29425284
Proctocolitis	Associate	31104363
Prostatic Neoplasms	Associate	11112663, 20056646, 25111183, 27013479, 30636012, 31953835, 34388386, 35638715, 35666082, 36922933, 37196219, 37283096, 38458890
Prostatic Neoplasms	Inhibit	25938433, 32384491
Prostatitis	Associate	11326315
Pseudohypoparathyroidism Type 2	Associate	27930579
Pseudomyxoma Peritonei	Associate	27938333
Rectal Diseases	Associate	16048395
Rectal Neoplasms	Associate	16521201, 19669908
Retinal Dysplasia	Associate	12740349, 15016754, 18360351, 21154739, 29972732, 29976631, 35143042
Retinal Dysplasia	Inhibit	28752838
Sarcoidosis Pulmonary	Associate	12521125
Sarcoma	Associate	12712483, 39778225
Sarcoma Clear Cell	Associate	16619000
Sarcoma Endometrial Stromal	Associate	31337882
Sarcoma Ewing	Associate	27077911
Sebaceous Gland Neoplasms	Associate	16826164, 19028998, 19069357, 29718441
Seminoma	Associate	22068818
Sertoli Cell Only Syndrome	Associate	18706547
Sigmoid Neoplasms	Associate	23112559
Skin Diseases	Associate	10594728, 15662714
Small Cell Lung Carcinoma	Associate	37147951
Small Cell Lung Carcinoma	Inhibit	37838086
Soft Tissue Infections	Associate	37076313
Spinocerebellar Degenerations	Associate	10732761, 14726676, 19116039, 24710284, 29472252
Squamous Cell Carcinoma of Head and Neck	Associate	15083191, 17219447, 19742317, 20412120, 22246327, 22748449, 26213212, 33501557, 35789992
Squamous Cell Carcinoma of Head and Neck	Inhibit	36005175
Stomach Neoplasms	Associate	10896919, 10980110, 11140703, 11870538, 11935297, 12163364, 12508345, 12679904, 12695555, 12746473, 14556664, 15133479, 15309712, 15831994, 15918206, 15942635, 15991278, 16108828, 16224153, 16619551, 17267619, 18069755, 20803768, 22136435, 22144422, 22228973, 22502664, 23098428, 23196062, 23555086, 23575079, 23803092, 24509146, 24737431, 24748501, 25197397, 26121593, 26810771, 26823831, 27527654, 27566570, 28381181, 28525661, 30387329, 30803214, 31207149, 32207245, 34936649, 35255858, 36640052, 39320958, 9750018
Stomach Neoplasms	Inhibit	26371427
T Lymphocytopenia Idiopathic CD4 Positive	Associate	18787700
Tachycardia Atrioventricular Nodal Reentry	Associate	22496206
Tarlov Cysts	Inhibit	33302424
Teratoma Ovarian	Associate	27938333
Tertiary Lymphoid Structures	Associate	19016758, 28709704
Testicular Germ Cell Tumor	Associate	16309235, 38285100
Testicular Neoplasms	Associate	22068818
Thymus Neoplasms	Associate	32273268
Thyroid cancer medullary	Associate	26295973
Thyroid Cancer Papillary	Associate	18470905, 33574476
Thyroid Carcinoma Anaplastic	Associate	25576899
Thyroid Diseases	Associate	21358597
Thyroid Neoplasms	Associate	16827152, 23414134, 28230037, 28757314, 31006665
Triple Negative Breast Neoplasms	Associate	32449246
Turcot syndrome	Associate	10360646, 10408835, 10748159, 11376026, 16343186, 18061181, 18787700, 19156169, 20473912, 20655395, 21242281, 22692065, 24323032, 25305506, 25341111, 26116798, 26249686, 26819409, 27268635, 27327152, 28381238, 28591715, 28709704, 28988047, 29210800, 29723603, 30693488, 30702970, 30723092, 30926882, 31068195, 31998307, 32060377, 32611331, 32917768, 33046565, 33216206, 33302424, 33369189, 33393477, 33414168, 33449452, 33452216, 34048176, 34111421, 34247610, 34657620, 35002543, 35197584, 35849120, 36482191, 36893489, 37433431, 37838086, 37940339, 39910726, 40105034
Turcot syndrome	Inhibit	16299036, 16309235, 19069357, 21694772, 29329588, 30643016, 31765263, 32384491, 32804882, 34545179, 35373289, 35596001, 37679002, 37699372, 38378964
Unilateral Breast Neoplasms	Associate	31848314
Uniparental Disomy	Associate	18583429
Ureteral Neoplasms	Associate	19995443
Urethral Neoplasms	Associate	24874052, 31844177, 34801034
Urinary Bladder Neoplasms	Associate	11161395, 11506498, 16619569, 21599969, 22331944, 22927776, 24289605, 28848075, 29362915, 34964002
Urologic Neoplasms	Associate	37798659
Uterine Cervical Dysplasia	Associate	35682732
Uterine Cervical Neoplasms	Associate	29806603, 37657688, 8922624
Uterine Cervicitis	Associate	35682732
Uterine Diseases	Associate	10550333
Uterine Neoplasms	Associate	22940821
Virus Diseases	Associate	12592365
Warburg Sjo Fledelius syndrome	Associate	15138486
Wilms Tumor	Associate	35436013