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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Adrenal cortex carcinoma	Likely pathogenic	rs63750144	RCV004813189
Breast and/or ovarian cancer	Pathogenic	rs63751615, rs587778913, rs63750855, rs63751657, rs2085487528	RCV003149572 RCV001270940 RCV001270941 RCV003492410 RCV001270942
Breast carcinoma	Likely pathogenic; Pathogenic	rs2081922847, rs63750726	RCV001554268 RCV001554328
Breast-ovarian cancer, familial, susceptibility to, 1	Pathogenic	rs267607760	RCV005861046
Carcinoma of colon	Pathogenic; Likely pathogenic	rs2125757477, rs2125808812, rs2125879653, rs2125879720, rs2125886267, rs2125943381, rs2125984594, rs267607867, rs2148522538, rs1060500698, rs587780683, rs1553640314, rs63751247, rs63751194, rs1553637475, rs267607720, rs1553640340, rs1553641269, rs1553644155, rs1553648068, rs1553663834, rs1575448385, rs63749906, rs63751012, rs267607710, rs63749795, rs267607837, rs267607844, rs267607854, rs63750604, rs63749792, rs63751662, rs63750206, rs587778971, rs63750809, rs587778972, rs63751275, rs267607894, rs267607901, rs587778998, rs63750641, rs63750453, rs63750539, rs63750906, rs267607745, rs63750057, rs267607749, rs63749959, rs63750648, rs63750385, rs267607780, rs267607790, rs267607786, rs63751598	RCV001356809 RCV001355701 RCV001357219 RCV001355122 RCV001356088 RCV001358326 RCV001357989 RCV001356082 RCV001354285 RCV001354438 RCV001356466 RCV001356181 RCV001353903 RCV000677879 RCV000503624 RCV000500939 RCV000499634 RCV000501724 RCV000500936 RCV001355307 RCV001355485 RCV001358451 RCV001353714 RCV001357016 RCV001358274 RCV001353584 RCV001358119 RCV000503705 RCV001355292 RCV001354093 RCV001354000 RCV001353681 RCV001353779 RCV001353532 RCV001353998 RCV001355274 RCV001356525 RCV001355258 RCV000075587 RCV001353582 RCV001353981 RCV001353830 RCV001353512 RCV001353809 RCV001353869 RCV001357978 RCV001356457 RCV000677883 RCV000075763 RCV001355343 RCV001353985 RCV001353965 RCV001353500 RCV001353449 RCV001353502 RCV001353633
Cervical cancer	Likely pathogenic; Pathogenic	rs267607784	RCV005897319
Colon cancer	Pathogenic; Likely pathogenic	rs63750781, rs63750691, rs1114167435, rs1553641362, rs1434898623, rs587779018, rs63751657, rs63750547	RCV003229801 RCV000677880 RCV000490700 RCV004698344 RCV000677882 RCV000677884 RCV001580146 RCV000677881
Colonic neoplasm	Pathogenic	rs587778967, rs267607789	RCV001644559 RCV001646997
Colorectal cancer, hereditary nonpolyposis, type 2	Pathogenic; Likely pathogenic	rs267607755, rs2125884574, rs2125886267, rs267607867, rs267607816, rs2125693612, rs2125693787, rs1575440595, rs2125887070, rs2125901597, rs2125957824, rs2471430754, rs2125985283, rs2125990255, rs2125991131, rs2125958437, rs2125957613, rs2125957913, rs267607750, rs63751199, rs587779950, rs56185292, rs2125735738, rs2148524462, rs587780683, rs2125694037, rs267607831, rs2125808143, rs2148522723, rs2125772569, rs2083402714, rs1559578422, rs2148523658, rs2125984506, rs2125985001, rs2125837110, rs2125883954, rs2125902731, rs267607789, rs587781554, rs267607712, rs267607745, rs1297411024, rs2470672295, rs267607736, rs778315874, rs2470806854, rs2470841202, rs2470807543, rs2471121904, rs267607765, rs1575449402, rs63750028, rs730881734, rs63751595, rs41542214, rs2470868133, rs2470672411, rs587779024, rs2470928875, rs267607751, rs2471123248, rs2471013728, rs2471013628, rs2470964312, rs2471010371, rs2470672727, rs2471012691, rs2471051807, rs2471052394, rs267607716, rs2470601695, rs876659468, rs786203456, rs786201990, rs786202767, rs2471009652, rs63750547, rs2471050452, rs1553651228, rs1553651429, rs2471177667, rs1434898623, rs267607845, rs2471345191, rs550914672, rs2083443709, rs2471317811, rs63751087, rs267607819, rs63751401, rs63750877, rs2471347247, rs2470675479, rs2085322101, rs2471438507, rs1553651457, rs2125855058, rs2471315426, rs1553662753, rs2471429433, rs2470675868, rs63750693, rs2471436948, rs2470676733, rs780956158, rs864622457, rs2470597805, rs63751632, rs2471454597, rs281864938, rs2471459479, rs2471459820, rs2471508293, rs2125711616, rs587778978, rs2471501187, rs2471505083, rs63750453, rs1553640340, rs766904735, rs2470758490, rs2470673227, rs2471313840, rs267607795, rs1553648091, rs1553666051, rs267607772, rs2470921405, rs786202774, rs2471478767, rs2471462609, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs267607832, rs869312767, rs63749818, rs267607732, rs876661059, rs876658915, rs267607878, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs63750057, rs878853794, rs878853778, rs878853780, rs878853785, rs1559500884, rs2470804147, rs2470807557, rs886039423, rs886039424, rs2125854993, rs2471125451, rs2471478642, rs2471505138, rs2471009737, rs2470757852, rs2470673205, rs2471123696, rs2471434803, rs2470671979, rs2470961670, rs63750044, rs2470806935, rs267607889, rs267607717, rs781755529, rs2470676905, rs2470602862, rs2471175808, rs2470604692, rs1553653237, rs2471437677, rs2471056367, rs587779035, rs1575639882, rs2471314653, rs2470597641, rs2125784723, rs2125993840, rs2471054136, rs2471504543, rs63750746, rs2470603846, rs2471048062, rs2471472984, rs774236450, rs2470841746, rs2471128935, rs2471436083, rs2471053951, rs2470806442, rs2470962000, rs755577490, rs2471479367, rs2470598661, rs2471435392, rs2471313267, rs587779031, rs2471053837, rs866845681, rs2471131726, rs2471184590, rs2471313310, rs2470603642, rs2470756691, rs2470965173, rs2470961762, rs2471348910, rs281864936, rs2470758204, rs2471433796, rs2470964003, rs2470601344, rs2471346406, rs2125837758, rs63751637, rs2125945214, rs2471479428, rs2471118927, rs2471437508, rs2471457123, rs755401753, rs2471346115, rs2470965645, rs2470599969, rs2471349139, rs2471122267, rs63750434, rs2471314528, rs2471177888, rs2471503587, rs2470962561, rs2471128349, rs2471429309, rs2471318074, rs2470757314, rs2471478138, rs2471118602, rs2470927873, rs2471121964, rs2082973177, rs2470842186, rs2471503046, rs74396541, rs63751606, rs587778898, rs2471009927, rs2470920456, rs2471313630, rs2471312297, rs2471127773, rs2471507465, rs2471010782, rs2470963553, rs2470676460, rs2470920385, rs2471314145, rs2470674713, rs2471131273, rs2471053107, rs2471054354, rs2470602247, rs2471435256, rs2470601198, rs2471461758, rs2471428328, rs2470920264, rs2470963756, rs2471477155, rs2125773087, rs2470805072, rs2470963659, rs2470672440, rs2471430153, rs2471435989, rs2125990683, rs2471116589, rs2471318663, rs2470603167, rs63749813, rs2471504849, rs2125809242, rs2471126138, rs2471125713, rs2471319263, rs2470601227, rs2125784530, rs2470966644, rs2471313402, rs267607734, rs2470756105, rs2471428169, rs2471500915, rs2471318734, rs2471120957, rs2470842418, rs2125901408, rs2471185646, rs2471117951, rs2470600722, rs1060500698, rs2470920106, rs2471120383, rs2471048182, rs2471114728, rs2471457687, rs2470843051, rs2471436783, rs2471429739, rs201541505, rs2470757051, rs63750198, rs63751109, rs63751247, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs2471437272, rs2470604197, rs2471478910, rs2471180159, rs2470806374, rs2471504399, rs2471133774, rs1057517543, rs193922370, rs1057517541, rs756843954, rs1057517617, rs63751194, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs267607815, rs1060500703, rs1064795341, rs63750822, rs1064793607, rs1064794348, rs587778968, rs1064795441, rs1064794373, rs1064793172, rs267607794, rs1064794122, rs1064795515, rs267607825, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs1553642698, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553637293, rs63750310, rs63750443, rs63751596, rs63750540, rs63751094, rs1553646681, rs63751221, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs63749792, rs1553648201, rs397514684, rs1553638868, rs267607722, rs63751657, rs1553665866, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs1559551570, rs1559575107, rs1553647894, rs1559553501, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs267607784, rs267607771, rs1559521039, rs63749959, rs1559574795, rs1481129490, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs1386031101, rs587779022, rs1575414904, rs1575448385, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs267607759, rs267607768, rs147542208, rs977932120, rs1553638767, rs2081170615, rs2080886738, rs2085425585, rs2082049708, rs2083706682, rs2084634023, rs587779027, rs2083411159, rs587779001, rs63750677, rs63749837, rs63751715, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs587778896, rs63751015, rs63751153, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs63751592, rs587778913, rs587778914, rs63749795, rs587778918, rs63750098, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607837, rs267607836, rs587778923, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs267607854, rs267607852, rs63751653, rs2083412120, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607868, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs267607875, rs63751255, rs63750610, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs587778966, rs267607883, rs267607887, rs587778967, rs63750061, rs63750663, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs63750769, rs587778973, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs267607888, rs587778976, rs63750603, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs587778996, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs267607735, rs63751665, rs63749816, rs63750539, rs63750906, rs267607739, rs587779006, rs587779008, rs267607742, rs267607743, rs587779010, rs587779012, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607749, rs63750891, rs63749804, rs267607760, rs587779021, rs63750515, rs587779023, rs63751480, rs267607773, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs63750823, rs267607787, rs63750303, rs63749839, rs63749827, rs267607790, rs267607791, rs267607786, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63751197, rs63750745, rs2083425688, rs2083718945, rs2080891193, rs2083448445	RCV003449990 RCV003449994 RCV003449998 RCV003449997 RCV003450048 RCV003450056 RCV003450076 RCV003450053 RCV003450058 RCV003451692 RCV003450068 RCV003452397 RCV003451683 RCV003450051 RCV003451696 RCV003451794 RCV001533149 RCV005247283 RCV003451914 RCV001799562 RCV003453039 RCV003452145 RCV003453848 RCV003453821 RCV003453054 RCV003452023 RCV003453910 RCV003452031 RCV003316856 RCV003453844 RCV003453862 RCV003453942 RCV003456267 RCV003453866 RCV003452108 RCV002484405 RCV003452129 RCV003452071 RCV003453062 RCV003453065 RCV003453096 RCV003454052 RCV002290148 RCV002290223 RCV003454096 RCV003454116 RCV003454130 RCV003454142 RCV003454136 RCV003454157 RCV003456285 RCV003456286 RCV003453263 RCV003453264 RCV003453265 RCV003453267 RCV003454156 RCV003454167 RCV003454172 RCV003454179 RCV003454154 RCV003454168 RCV003454220 RCV003454221 RCV003454193 RCV003454213 RCV005869813 RCV003454218 RCV003454230 RCV003454232 RCV003454405 RCV003454188 RCV003454189 RCV003454417 RCV003454397 RCV003454406 RCV003454211 RCV003454222 RCV003454225 RCV003454236 RCV003454241 RCV003456288 RCV003454267 RCV003454268 RCV003454269 RCV003454234 RCV003454238 RCV003454264 RCV003454265 RCV002467460 RCV003465726 RCV003454273 RCV003454274 RCV003454277 RCV004796730 RCV003454297 RCV003454243 RCV003454244 RCV004593006 RCV003454261 RCV003454282 RCV003454283 RCV003454285 RCV005601907 RCV003454293 RCV003454310 RCV003454323 RCV003454332 RCV003455475 RCV002467461 RCV003454300 RCV003454301 RCV003454306 RCV003454308 RCV003454309 RCV003454337 RCV003454302 RCV003454304 RCV003454324 RCV003454325 RCV003454334 RCV003455515 RCV005254100 RCV003455498 RCV003455500 RCV002463854 RCV002466901 RCV003454426 RCV003450585 RCV003452705 RCV003455713 RCV003455747 RCV003456310 RCV003455561 RCV003455589 RCV003455599 RCV003454498 RCV003455658 RCV003454512 RCV003456008 RCV003454506 RCV003454507 RCV003454508 RCV003468928 RCV003454509 RCV003454510 RCV003454511 RCV003454536 RCV000576496 RCV003454544 RCV003454547 RCV003454551 RCV003454662 RCV003454676 RCV003454668 RCV003454679 RCV003454669 RCV003454628 RCV003454660 RCV003454659 RCV003454649 RCV003454647 RCV003469008 RCV003454613 RCV003454633 RCV003454622 RCV003454654 RCV003454631 RCV000659877 RCV003454640 RCV003456010 RCV003454698 RCV003456009 RCV000987181 RCV003454697 RCV003455769 RCV003455773 RCV003455774 RCV003455775 RCV003454776 RCV003454777 RCV003315485 RCV003316932 RCV003316959 RCV003316993 RCV003330227 RCV003334439 RCV003455804 RCV003470125 RCV003452708 RCV003450207 RCV003450209 RCV003450210 RCV003450225 RCV003450244 RCV003450247 RCV003450250 RCV003450280 RCV003450288 RCV003450314 RCV003450323 RCV003450331 RCV003450346 RCV003450435 RCV003450462 RCV003450465 RCV003450468 RCV003450517 RCV003450519 RCV003450550 RCV003450592 RCV003450598 RCV003452215 RCV003452226 RCV003452230 RCV003452241 RCV003452256 RCV003452259 RCV003452272 RCV003452278 RCV003452287 RCV003452293 RCV003452300 RCV003452307 RCV003452343 RCV003452352 RCV003452359 RCV003452386 RCV003452387 RCV003452391 RCV003452401 RCV003452403 RCV003452415 RCV003452417 RCV003452421 RCV003452427 RCV003452437 RCV003452458 RCV003452474 RCV003452477 RCV003452487 RCV003452511 RCV003452538 RCV003452627 RCV003452628 RCV003452630 RCV003452631 RCV003452632 RCV003452633 RCV003452634 RCV003452635 RCV003452636 RCV003452637 RCV003452638 RCV003452639 RCV003452640 RCV003452641 RCV003452643 RCV003452644 RCV003452645 RCV003452647 RCV003452648 RCV003452650 RCV003452651 RCV003452653 RCV003452654 RCV003452655 RCV003452657 RCV003452658 RCV003452660 RCV003452661 RCV003452662 RCV003452663 RCV003452664 RCV003452665 RCV003452666 RCV003452667 RCV003452668 RCV003452669 RCV003452671 RCV003452672 RCV003452673 RCV003452675 RCV003452676 RCV003452677 RCV003452678 RCV003452679 RCV003452680 RCV003452681 RCV003452682 RCV003452683 RCV003452684 RCV003452685 RCV003452686 RCV003452687 RCV003452688 RCV003452689 RCV003452690 RCV003452691 RCV003452692 RCV003452693 RCV003452694 RCV003452695 RCV003452696 RCV003452699 RCV003452701 RCV003452702 RCV003452707 RCV003452709 RCV003452710 RCV003452712 RCV003452713 RCV003452714 RCV003452717 RCV003452718 RCV003452720 RCV003452722 RCV003452723 RCV003452724 RCV003452726 RCV003452727 RCV003452728 RCV003452729 RCV003456347 RCV003452730 RCV003452733 RCV003452735 RCV003452736 RCV003452737 RCV003454338 RCV003454339 RCV003454341 RCV003454342 RCV003454343 RCV003454345 RCV003454346 RCV003454347 RCV003454349 RCV003454350 RCV003454352 RCV003454353 RCV003456348 RCV003456349 RCV003454355 RCV003456350 RCV003454358 RCV003454359 RCV003456351 RCV003454361 RCV003486533 RCV004369363 RCV000018607 RCV000018608 RCV000192399 RCV000018613 RCV000018614 RCV000018616 RCV000018618 RCV000018626 RCV000018629 RCV000018631 RCV000018632 RCV000018640 RCV000018641 RCV003983752 RCV003984971 RCV004442592 RCV004442611 RCV004442617 RCV004574877 RCV004589324 RCV000410179 RCV000410339 RCV000411311 RCV000410636 RCV000409147 RCV003449053 RCV000022502 RCV000022505 RCV003449120 RCV003449119 RCV003449125 RCV003449122 RCV003449124 RCV003449121 RCV003449123 RCV003449217 RCV003449235 RCV003449178 RCV004568174 RCV003449177 RCV000576330 RCV003449207 RCV003449164 RCV003449195 RCV003449199 RCV001257465 RCV003449206 RCV003449205 RCV003449165 RCV003449269 RCV003449395 RCV005356010 RCV003449396 RCV003449397 RCV001258083 RCV003449398 RCV003449399 RCV005869525 RCV004023355 RCV003449444 RCV003449445 RCV003449446 RCV003449441 RCV003449442 RCV003449443 RCV003449483 RCV003449476 RCV000662367 RCV003470652 RCV000659871 RCV003449521 RCV003449529 RCV000576742 RCV003456087 RCV000018611 RCV003449527 RCV003449525 RCV003449530 RCV003449531 RCV000987177 RCV003449522 RCV003449526 RCV003449528 RCV003449523 RCV003449524 RCV003456097 RCV003451277 RCV000659868 RCV004568231 RCV003451244 RCV003456096 RCV003451215 RCV003451275 RCV003451274 RCV003451279 RCV003451242 RCV003451232 RCV003451245 RCV003451278 RCV003451243 RCV002272292 RCV003451276 RCV003451246 RCV000576407 RCV003451299 RCV003451300 RCV003451316 RCV003451317 RCV003451328 RCV003388588 RCV003335062 RCV003451502 RCV003451490 RCV003451509 RCV003316779 RCV003451500 RCV003451583 RCV003451607 RCV003451593 RCV003451590 RCV003451586 RCV003451600 RCV003451609 RCV003451592 RCV000659873 RCV003453397 RCV003453469 RCV003453500 RCV003453445 RCV003453463 RCV003453440 RCV000763101 RCV003453448 RCV000987152 RCV000987173 RCV000987175 RCV000987186 RCV000709740 RCV004773125 RCV003453550 RCV003453551 RCV003453552 RCV003453553 RCV003453600 RCV003453604 RCV003456141 RCV003453610 RCV003453614 RCV003453615 RCV003453735 RCV003453718 RCV001523826 RCV003453662 RCV003453642 RCV005036215 RCV002507374 RCV003453654 RCV003454992 RCV003455095 RCV005359781 RCV003455125 RCV003455133 RCV003455137 RCV003455069 RCV001823177 RCV003455082 RCV003455087 RCV003455121 RCV003455128 RCV003455074 RCV003455241 RCV003455206 RCV003455232 RCV003455183 RCV003455272 RCV005621074 RCV003455177 RCV003455442 RCV001170063 RCV003449577 RCV005866827 RCV003449621 RCV003449616 RCV003449679 RCV003449702 RCV003449675 RCV003456203 RCV003449645 RCV002497722 RCV003449714 RCV000662782 RCV005364962 RCV000576465 RCV003450997 RCV003450998 RCV003450999 RCV002243695 RCV003451000 RCV003137609 RCV003451001 RCV003451002 RCV003455988 RCV003451003 RCV003451004 RCV003451005 RCV003451006 RCV003451007 RCV000709737 RCV003451008 RCV002288566 RCV003451010 RCV003451011 RCV005357458 RCV003451012 RCV003451013 RCV003451014 RCV003451015 RCV003129769 RCV003451016 RCV003451017 RCV003451018 RCV003451019 RCV003451020 RCV003451021 RCV003451022 RCV003451023 RCV003451024 RCV003451025 RCV003451026 RCV002288567 RCV003451027 RCV003451028 RCV000662808 RCV005600639 RCV005394310 RCV003315404 RCV000412044 RCV003451029 RCV003451030 RCV003451031 RCV003447487 RCV003315592 RCV003451032 RCV003455989 RCV003451033 RCV003451034 RCV000410283 RCV003451035 RCV001027534 RCV003451036 RCV003451037 RCV003451038 RCV003466956 RCV003451039 RCV003451040 RCV003451041 RCV003451969 RCV003451042 RCV003451043 RCV003451045 RCV003451046 RCV003451047 RCV003451048 RCV003451049 RCV003455990 RCV003451050 RCV003451051 RCV003451052 RCV003451053 RCV003451054 RCV000576509 RCV003451055 RCV003451056 RCV000662481 RCV003451057 RCV003451058 RCV003451059 RCV003449802 RCV003449799 RCV003451060 RCV005600640 RCV003451061 RCV003451062 RCV003451063 RCV005357462 RCV000018615 RCV003451065 RCV003451066 RCV003451067 RCV000018638 RCV003451068 RCV003451069 RCV003451070 RCV003451071 RCV003451072 RCV003451073 RCV003451074 RCV003451075 RCV003451076 RCV003460707 RCV003451077 RCV002288568 RCV002466421 RCV000605751 RCV000662785 RCV005394313 RCV003451079 RCV003451081 RCV003451082 RCV002291271 RCV003451083 RCV003451084 RCV000477957 RCV003451085 RCV003451086 RCV002463635 RCV003451087 RCV003451088 RCV003451089 RCV003451090 RCV003451091 RCV003451092 RCV003466957 RCV003450265 RCV000662719 RCV005031555 RCV003451093 RCV003451094 RCV003455991 RCV003451095 RCV003451096 RCV003451097 RCV000764497 RCV003451098 RCV000411954 RCV003451099 RCV003455992 RCV003455993 RCV003455994 RCV003451100 RCV003451101 RCV003137610 RCV000763098 RCV003455995 RCV003455996 RCV003451103 RCV003451104 RCV005600643 RCV003466958 RCV002288570 RCV003451105 RCV003451106 RCV003451107 RCV003451108 RCV003451109 RCV000018633 RCV003451110 RCV003451111 RCV003451112 RCV003451113 RCV003451114 RCV003451115 RCV003451116 RCV003455997 RCV003451117 RCV001823108 RCV000409988 RCV003460709 RCV006255144 RCV001262551 RCV003451120 RCV002467439 RCV000659867 RCV003451121 RCV003451122 RCV003451123 RCV002291272 RCV002288572 RCV003451125 RCV003451126 RCV003451127 RCV003451128 RCV000022504 RCV003451130 RCV003451131 RCV003451132 RCV003451133 RCV003451134 RCV005357470 RCV003451136 RCV003451137 RCV003451138 RCV003451139 RCV003451140 RCV003451141 RCV003451142 RCV003451143 RCV003453982 RCV003451144 RCV003451145 RCV003388572 RCV003451146 RCV003455998 RCV003451147 RCV004019104 RCV003451148 RCV000576794 RCV003451149 RCV003452739 RCV003452740 RCV003452741 RCV003452742 RCV003452743 RCV003452744 RCV000609647 RCV003452745 RCV003452746 RCV003452747 RCV003452748 RCV003452749 RCV003455999 RCV003452750 RCV003452751 RCV001253171 RCV003452752 RCV000763100 RCV003456000 RCV002483124 RCV000576331 RCV003456001 RCV003452755 RCV003452756 RCV003452757 RCV000663323 RCV003452758 RCV003466960 RCV003452759 RCV000410542 RCV000709741 RCV003452760 RCV003452761 RCV001258081 RCV003452762 RCV003452763 RCV003466961 RCV003452765 RCV001258082 RCV003452766 RCV003452767 RCV002291498 RCV003452768 RCV003452769 RCV003388825 RCV003452770 RCV003452771 RCV003452772 RCV003452773 RCV001262553 RCV003452774 RCV003452775 RCV005357476 RCV000662604 RCV002243696 RCV003452777 RCV003452778 RCV003452779 RCV003452780 RCV003452781 RCV003452782 RCV000663124 RCV003452783 RCV003452784 RCV003452786 RCV003452787 RCV003452788 RCV003452789 RCV001523813 RCV003452790 RCV003452791 RCV000656559 RCV003452792 RCV006249584 RCV003452793 RCV003449806 RCV001250249 RCV001258070 RCV004570665
Endometrial carcinoma	Likely pathogenic; Pathogenic	rs2125710774, rs267607772, rs2125943327, rs2471181009, rs63750781, rs63750855, rs63751711, rs267607789	RCV001354327 RCV001354775 RCV001358360 RCV003128177 RCV001353627 RCV003128138 RCV003128139 RCV003128140
Familial cancer of breast	Likely pathogenic; Pathogenic	rs63750453, rs1064793607, rs587779001, rs267607815, rs267607711, rs267607825, rs267607834, rs63750028, rs267607871, rs1553647888	RCV005931945 RCV005355926 RCV005357453 RCV005357455 RCV005370206 RCV005357460 RCV005362132 RCV005364963 RCV005357463 RCV005362133
Familial colorectal cancer	Likely pathogenic	rs2085261656	RCV001171464
Gastric cancer	Pathogenic; Likely pathogenic	rs2471012741, rs2471013311, rs1553653158, rs587782087, rs63751101, rs147542208, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047	RCV003164613 RCV003164614 RCV003159726 RCV003159730 RCV003159981 RCV003160614 RCV003162482 RCV003162484 RCV003162488 RCV003162489 RCV003162490
Glioma susceptibility 1	Pathogenic	rs267607789	RCV005890449
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs267607732, rs63750217, rs267607871	RCV004794378 RCV005251042 RCV005638419
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2125710774, rs267607772, rs2125992965, rs587778911, rs2125693612, rs2125887070, rs2125902896, rs2125957824, rs2125985283, rs2125986083, rs2125990255, rs267607883, rs2125693080, rs2125958437, rs2125957613, rs2125957913, rs587778967, rs267607750, rs267607778, rs1064795693, rs63750144, rs587779950, rs56185292, rs2125837018, rs2125945833, rs267607831, rs2125693198, rs2125808143, rs2148522723, rs2125993690, rs1559578422, rs2125958240, rs2083454135, rs2125837110, rs2125883954, rs74396541, rs2125902731, rs267607789, rs587781518, rs587781554, rs587781892, rs587782265, rs267607712, rs267607745, rs267607736, rs2125756776, rs2470599709, rs587779013, rs1060500689, rs2470842027, rs2470599861, rs2470842772, rs2470805115, rs63750539, rs778315874, rs63750781, rs2470604565, rs2470806854, rs2470841202, rs2470841807, rs2470842570, rs770919400, rs2471121537, rs2470843414, rs2471119792, rs2470805707, rs2470806686, rs2470807543, rs2470843366, rs2470867588, rs2470867807, rs2470867659, rs2471119084, rs2470599366, rs2470805527, rs2470805627, rs2470599394, rs2470604622, rs2125694907, rs2470842186, rs2470842923, rs2470843076, rs2471121904, rs2470870605, rs2470871542, rs267607765, rs1575449402, rs587779022, rs2470921165, rs2470672531, rs267607713, rs2082348062, rs730881734, rs63751595, rs41542214, rs2470868133, rs2470868198, rs2470869223, rs748500860, rs2470871442, rs2470920624, rs2470920759, rs2470920839, rs2471123727, rs2470929036, rs2470929223, rs2470929303, rs1553642660, rs2470868954, rs2470870079, rs2471122926, rs2470600492, rs2470871018, rs2470672411, rs2470920359, rs587779024, rs587779027, rs267607767, rs2470926578, rs2470927659, rs2470928875, rs2470844085, rs2470844128, rs267607751, rs2470868851, rs2470870959, rs2125805306, rs2470600527, rs2471123248, rs2470921314, rs2470927362, rs2470601434, rs2470929452, rs876658339, rs2470962386, rs2470963019, rs2470963178, rs2125823466, rs267607794, rs2471009457, rs1553646681, rs2471011164, rs2471013728, rs2471013628, rs1553646764, rs2471047057, rs2470964312, rs2470964236, rs2470964390, rs63750310, rs2470966040, rs2471125830, rs2470966392, rs2470966628, rs267607790, rs267607792, rs2470966746, rs2471125892, rs2471126278, rs2471010371, rs2470672727, rs2471010889, rs1553646679, rs2471012691, rs2471012821, rs2471049630, rs2471051807, rs2470603317, rs2471052270, rs2470672933, rs2471052394, rs2470961086, rs2470961710, rs2125821701, rs1553645179, rs2470964022, rs56250509, rs2470965853, rs2470965824, rs2125837128, rs267607716, rs786202328, rs2470601695, rs267607786, rs876659468, rs786203893, rs2082528605, rs786203456, rs786201990, rs786202767, rs786202326, rs1559534696, rs2470964976, rs2470965080, rs2470965363, rs2471009593, rs748423430, rs2471009652, rs2471011668, rs2471011843, rs2125837758, rs63750547, rs2471048212, rs2471050452, rs2471127803, rs2471052718, rs2471127896, rs2470603450, rs2083435502, rs1553651228, rs2470672915, rs2471128631, rs587778906, rs1553651429, rs2471132543, rs2471177667, rs2471177947, rs2471183629, rs1434898623, rs267607845, rs2471344625, rs2471345191, rs63751616, rs2471427095, rs2471427666, rs550914672, rs2471054040, rs2083443709, rs2471130996, rs2471131221, rs2471131439, rs2471134885, rs869244899, rs2125901211, rs2471311812, rs2471312477, rs2471312579, rs2471313069, rs2471317702, rs2471317670, rs2471317811, rs63751087, rs63750193, rs2471319029, rs2471348402, rs2471349017, rs2471349424, rs2471349358, rs267607850, rs267607854, rs2471425024, rs2471425819, rs2525697053, rs2125985073, rs2471432920, rs2471179260, rs2471179878, rs2470674011, rs267607819, rs2471180389, rs63751401, rs2125903643, rs2471186325, rs267607832, rs2471309569, rs2471316010, rs63750877, rs2471347247, rs2470675479, rs2125957980, rs2471348340, rs2471430111, rs2471437568, rs63751415, rs2471437953, rs2085322101, rs2471438507, rs2125986196, rs587778960, rs63750867, rs2471132512, rs2471132640, rs1553651457, rs2471133097, rs587778909, rs878853777, rs2471178478, rs587778915, rs2470673803, rs2125855058, rs2470674413, rs2125903168, rs2471184850, rs2470598088, rs2470675068, rs2471315426, rs1559575256, rs2471346214, rs2471346184, rs2471346823, rs2125957627, rs2471428751, rs1553662753, rs2471429433, rs2470675868, rs2471115561, rs2471436124, rs2471436021, rs63750693, rs2471436948, rs2471433553, rs2471434062, rs2471434551, rs1212620164, rs2471434909, rs2471460324, rs2471460737, rs2470676733, rs2471461404, rs587778885, rs2471476647, rs267607718, rs1184598875, rs780956158, rs2471477479, rs2471477323, rs2148511632, rs267607720, rs750596783, rs2471504437, rs2471504522, rs2471504561, rs864622457, rs2471504798, rs587778995, rs267607908, rs2470755512, rs2470597805, rs63750641, rs2470757430, rs63751632, rs2471455000, rs2471454924, rs63751643, rs2471454597, rs2471115787, rs2471456258, rs2081173076, rs63750899, rs63750610, rs2471459149, rs281864938, rs2125990724, rs2471459600, rs2471459479, rs2471459675, rs2471459820, rs2471474292, rs2471474473, rs2471474687, rs2471474948, rs2125993840, rs2471502728, rs2471502877, rs2148523055, rs2471503616, rs2471503698, rs2471507698, rs2471507950, rs2471508293, rs2471508751, rs2470755848, rs2470756047, rs63750884, rs2471457610, rs2125711616, rs2471458224, rs1553663884, rs2471458350, rs2471458528, rs786202774, rs2471458722, rs2471473234, rs2471473667, rs2471474035, rs2471474144, rs2470754280, rs2471506643, rs2470755174, rs876658883, rs1553650621, rs2471471534, rs2471471463, rs2471470978, rs2471471760, rs2471471840, rs2471472319, rs63750292, rs780406337, rs2471479049, rs2471479459, rs2148512428, rs587778978, rs2471500439, rs2471501187, rs2471505083, rs2471505398, rs2471505649, rs2471505698, rs2471116726, rs2471116958, rs201673334, rs2470758072, rs2471118144, rs2471118677, rs2471118448, rs63750453, rs1553640340, rs766904735, rs2471118338, rs2470758490, rs2470758405, rs267607726, rs2081475505, rs267607795, rs2470778520, rs63751202, rs863225383, rs863225384, rs863225376, rs863225377, rs863225378, rs63750059, rs267607744, rs267607823, rs869312767, rs876661159, rs63749818, rs267607732, rs876661059, rs267607878, rs876658923, rs876660860, rs876660822, rs876658962, rs876660458, rs876660214, rs876658657, rs876658247, rs876659073, rs876659226, rs876658821, rs876660589, rs876659068, rs63750217, rs876659681, rs876659608, rs63750057, rs878853794, rs878853778, rs878853780, rs878853785, rs878853787, rs1559500884, rs2471472661, rs2470804147, rs2471434953, rs2470807557, rs2470842942, rs2471124556, rs1575481094, rs1553640314, rs2471115496, rs886039424, rs2125852830, rs2125854993, rs2470673205, rs63750555, rs2470609205, rs781755529, rs267607816, rs1553653237, rs63750746, rs2471048062, rs2471479367, rs2471435392, rs2470758204, rs755401753, rs2471128349, rs2471430153, rs2471125713, rs2471318734, rs2471120383, rs2470965194, rs2470965396, rs2471507912, rs2470927286, rs2471177072, rs2471429550, rs2471471419, rs2471500698, rs2471503075, rs63750198, rs63751109, rs63751247, rs63750710, rs63751615, rs63750206, rs63750691, rs63749939, rs2471180159, rs63751677, rs2470758556, rs1559524405, rs2471011138, rs2471049473, rs1057517543, rs193922370, rs1057517541, rs1057520627, rs63751194, rs764085979, rs1060500707, rs1060500698, rs1060500699, rs267607815, rs1060500688, rs1060500703, rs63750822, rs1064793607, rs587778968, rs1064795441, rs1064793172, rs1064795515, rs267607825, rs1064794267, rs1064793177, rs63750978, rs1553641362, rs63751448, rs1553647947, rs1553648029, rs587778903, rs587778937, rs1553664506, rs1553637196, rs1553647995, rs1553648047, rs1553653084, rs1553664436, rs1553637293, rs63750443, rs63751596, rs63750540, rs63751094, rs1553647894, rs63751221, rs267607856, rs267607852, rs550890395, rs1064796057, rs267607709, rs1553648023, rs587782087, rs746536721, rs1553653037, rs63751137, rs1553642777, rs1553645301, rs1553648068, rs1553645331, rs1553641295, rs1553650741, rs1553644123, rs1553657971, rs1553658246, rs1553659500, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1553659334, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553642718, rs1553648225, rs63749792, rs1553648201, rs397514684, rs1553638868, rs267607722, rs63751657, rs1553642707, rs1553652883, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559543768, rs267607901, rs1553645226, rs1559575107, rs1559597322, rs1060500702, rs1559553501, rs1559558071, rs267607784, rs267607771, rs1559575143, rs1559521039, rs63749959, rs1559574795, rs267607884, rs1481129490, rs1575376830, rs63750507, rs1575481212, rs1575537843, rs63751662, rs63750740, rs1575628928, rs1575376414, rs1575377175, rs1575395286, rs63750281, rs1575414387, rs1575414904, rs1575428643, rs1575448385, rs1575449093, rs1575469505, rs1466223609, rs1575536219, rs1575536254, rs1575536698, rs1575537933, rs1575552157, rs1575594377, rs1060500687, rs1575622163, rs1575632112, rs1575632215, rs1575639851, rs1575640960, rs1575413885, rs1575441094, rs1575554246, rs2081922847, rs2085310643, rs2085415927, rs267607768, rs2082517369, rs267607743, rs2082051355, rs147542208, rs2085261656, rs2081162085, rs1553638767, rs2081170615, rs1553644277, rs2085425585, rs2082049708, rs63750580, rs63750850, rs2083411159, rs587779001, rs63750677, rs63750339, rs63749837, rs63751715, rs267607822, rs63749906, rs587778883, rs63750715, rs587778888, rs267607706, rs267607710, rs267607711, rs63750749, rs63750483, rs63751015, rs63751153, rs63750316, rs63749981, rs267607821, rs587778908, rs63750020, rs63750713, rs63751592, rs281864936, rs63750482, rs587778913, rs587778914, rs63749795, rs63750855, rs63749923, rs63751472, rs63751705, rs63751689, rs267607837, rs267607836, rs587778923, rs63750028, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs63750511, rs267607844, rs63751244, rs63751081, rs63751393, rs63751460, rs63750464, rs63751709, rs63751608, rs267607853, rs63751653, rs2083412120, rs63750309, rs267607865, rs63750587, rs63749863, rs63750016, rs63749868, rs63750035, rs63750604, rs63750386, rs587778947, rs63750486, rs63751428, rs267607866, rs63749986, rs587778950, rs63750152, rs63751639, rs267607867, rs267607869, rs267607871, rs587778955, rs587778956, rs63750469, rs587778958, rs267607875, rs63751255, rs63751465, rs267607715, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs63750639, rs63750061, rs63750663, rs63750242, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607717, rs587778973, rs63749995, rs63750859, rs587778975, rs63750114, rs267607888, rs587778976, rs63750603, rs267607889, rs63751651, rs267607723, rs63749829, rs63750561, rs63750499, rs63751642, rs63751022, rs587778983, rs63750971, rs587778984, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs587778993, rs267607892, rs63749859, rs63750437, rs587778997, rs63749990, rs587778998, rs63750005, rs63751421, rs111052004, rs267607727, rs267607734, rs267607735, rs63751665, rs63749816, rs587779006, rs63751606, rs587779008, rs63750081, rs267607742, rs587779010, rs587779009, rs587779012, rs63751124, rs72481822, rs587779014, rs587779015, rs63749820, rs63751302, rs267607749, rs267607753, rs63750891, rs63749804, rs63750211, rs267607760, rs587779021, rs267607759, rs63750515, rs63750648, rs63751480, rs267607773, rs267607769, rs63751637, rs587779029, rs63750706, rs63750385, rs267607774, rs267607780, rs587779034, rs63751711, rs587779035, rs267607785, rs63750823, rs267607787, rs63750303, rs63750948, rs63749827, rs63751283, rs267607798, rs267607791, rs267607788, rs63750792, rs63749950, rs587779045, rs63750034, rs587779047, rs63750216, rs63750517, rs63751707, rs63751598, rs267607803, rs267607777, rs267607805, rs63750736, rs63750489, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63751197, rs63750745, rs2081161426, rs2082522248, rs2080891193, rs2083448445, rs2082990862	RCV002384494 RCV004036720 RCV002420774 RCV002395859 RCV005403066 RCV002395866 RCV002395864 RCV002404901 RCV002413918 RCV002413922 RCV002413909 RCV004037656 RCV001525438 RCV001525706 RCV002414253 RCV002405244 RCV002421236 RCV002334689 RCV001804467 RCV001805680 RCV002370334 RCV002326810 RCV002397902 RCV002422972 RCV004641876 RCV002398034 RCV002361384 RCV002359318 RCV002425321 RCV002422938 RCV002398071 RCV002406937 RCV002386821 RCV002423009 RCV002370496 RCV002334975 RCV002388780 RCV000129379 RCV000129504 RCV000129570 RCV000130228 RCV000130995 RCV000132299 RCV002258502 RCV002319778 RCV002445539 RCV002366402 RCV002366409 RCV002357500 RCV002321393 RCV002323204 RCV002323339 RCV002328114 RCV002326376 RCV002326462 RCV002459179 RCV002459196 RCV002452530 RCV002452553 RCV002355598 RCV002359482 RCV002327707 RCV002333530 RCV002333604 RCV002333623 RCV002457143 RCV002457239 RCV002460326 RCV002355182 RCV002332186 RCV002332351 RCV002330326 RCV002330329 RCV002340134 RCV002320709 RCV002452070 RCV002452156 RCV002456933 RCV002455199 RCV002357648 RCV002357660 RCV002375446 RCV002357668 RCV002333122 RCV002330017 RCV002330117 RCV002330511 RCV002338496 RCV002349657 RCV002349658 RCV002349659 RCV002349728 RCV002359641 RCV002368784 RCV002353985 RCV002368884 RCV002415703 RCV002368886 RCV000569542 RCV002415704 RCV002342508 RCV002342518 RCV002340287 RCV002340458 RCV002347133 RCV002347350 RCV002347370 RCV002347478 RCV002355862 RCV002364220 RCV002364325 RCV002364399 RCV002342202 RCV002337807 RCV002335718 RCV002344584 RCV002344590 RCV002344642 RCV002346931 RCV002345003 RCV002353527 RCV002353588 RCV002353589 RCV002355665 RCV002353641 RCV002361995 RCV002340049 RCV002340050 RCV002340051 RCV002337715 RCV002341018 RCV002351619 RCV002351666 RCV002351957 RCV002359815 RCV002358319 RCV002361582 RCV002375806 RCV002378102 RCV002378183 RCV002371102 RCV002382675 RCV002416684 RCV002416698 RCV002419090 RCV002434645 RCV002434717 RCV002449822 RCV002373807 RCV002449823 RCV002373808 RCV002373832 RCV002391561 RCV002391596 RCV002393823 RCV002393918 RCV002412114 RCV002412164 RCV002412282 RCV002416655 RCV002416656 RCV002412370 RCV002412371 RCV002412374 RCV002427933 RCV002428009 RCV002430262 RCV002430306 RCV002430317 RCV002373337 RCV002373402 RCV002378868 RCV002385248 RCV002385291 RCV002385380 RCV002376532 RCV002376555 RCV002369365 RCV002369372 RCV002369464 RCV002365077 RCV002384994 RCV002409766 RCV002409862 RCV002409915 RCV002427802 RCV000165647 RCV000165082 RCV002364748 RCV000167140 RCV002364829 RCV000167395 RCV002380050 RCV000166770 RCV000164560 RCV000165746 RCV000165077 RCV002396342 RCV002396357 RCV002396481 RCV002400597 RCV002412418 RCV002412421 RCV002419320 RCV002445938 RCV002447627 RCV002447694 RCV002375977 RCV002376139 RCV002371626 RCV002376675 RCV002387081 RCV002387236 RCV002376798 RCV002383175 RCV002383245 RCV002383293 RCV002380576 RCV002387834 RCV002383401 RCV002383533 RCV002392008 RCV002392116 RCV002392268 RCV002403902 RCV002403919 RCV002403920 RCV002405899 RCV002401483 RCV002401487 RCV002401510 RCV002407545 RCV002382833 RCV002382888 RCV002387499 RCV002387709 RCV002387760 RCV002387790 RCV002389328 RCV002389401 RCV002391660 RCV002405394 RCV002392606 RCV002405657 RCV002405741 RCV002403548 RCV002403561 RCV002403580 RCV002403594 RCV002403629 RCV002403745 RCV002399059 RCV002414829 RCV002399138 RCV002407421 RCV002407422 RCV002407423 RCV002407434 RCV002407435 RCV002399252 RCV002410007 RCV002410228 RCV002410313 RCV002394760 RCV002396870 RCV002396912 RCV002396935 RCV002396980 RCV002403333 RCV002403370 RCV002403451 RCV002405338 RCV002405360 RCV002401024 RCV002406280 RCV002406348 RCV002398867 RCV002398957 RCV002414758 RCV002404102 RCV002415153 RCV002415184 RCV002415293 RCV002415326 RCV002407926 RCV002408080 RCV002410621 RCV002380758 RCV002383547 RCV002383558 RCV002383605 RCV002383607 RCV002383759 RCV002381083 RCV002394364 RCV002394429 RCV002394516 RCV002394555 RCV002394669 RCV002394673 RCV002392413 RCV002392422 RCV002403065 RCV002398663 RCV002398682 RCV002394804 RCV002400969 RCV002414569 RCV002406111 RCV002406189 RCV002414663 RCV002401723 RCV002401782 RCV002401833 RCV002404055 RCV002413038 RCV002413087 RCV002413126 RCV002414995 RCV002415015 RCV002410459 RCV002412624 RCV002412659 RCV002412750 RCV002412755 RCV002412885 RCV002423357 RCV002423437 RCV002423473 RCV002423569 RCV002423751 RCV002421997 RCV002422121 RCV002422124 RCV002422154 RCV002422159 RCV002422160 RCV002422168 RCV002422231 RCV002423908 RCV002432632 RCV002432758 RCV002432771 RCV002432775 RCV002432828 RCV002432845 RCV002443852 RCV002443895 RCV002446060 RCV002431035 RCV002434920 RCV002452978 RCV002408114 RCV002408115 RCV002408122 RCV002408123 RCV002408125 RCV002408126 RCV002408139 RCV002408267 RCV002408342 RCV002413166 RCV002413199 RCV002413215 RCV002413249 RCV002413260 RCV002421593 RCV002421597 RCV002421602 RCV002421623 RCV002421641 RCV002419792 RCV002419803 RCV002419863 RCV002419934 RCV002421849 RCV002430554 RCV002430588 RCV002432413 RCV002432528 RCV002432546 RCV002428363 RCV002420194 RCV002428458 RCV002443610 RCV002457702 RCV002448519 RCV002450172 RCV002410721 RCV002410772 RCV002410782 RCV002410905 RCV002410967 RCV002411006 RCV002411007 RCV002411016 RCV002411036 RCV002411039 RCV002417438 RCV002417439 RCV002419657 RCV002419708 RCV002419738 RCV002424377 RCV002424381 RCV002420124 RCV002428236 RCV002423764 RCV002423826 RCV002423832 RCV002423833 RCV002423834 RCV002423835 RCV002416959 RCV002416970 RCV002417203 RCV002417209 RCV002417250 RCV002424110 RCV002424256 RCV002424259 RCV002424260 RCV002424261 RCV002424270 RCV002424272 RCV002424326 RCV002425492 RCV002425493 RCV002425568 RCV002420075 RCV002425604 RCV002425651 RCV002446345 RCV002433326 RCV002439612 RCV002439729 RCV002442014 RCV002439768 RCV002444103 RCV002444211 RCV002435161 RCV002435328 RCV002437663 RCV002437673 RCV002435875 RCV002442090 RCV002415716 RCV004942982 RCV004946087 RCV004639173 RCV000216838 RCV002415862 RCV002408886 RCV002399753 RCV000218337 RCV002399757 RCV001021211 RCV001010534 RCV000223493 RCV002426965 RCV002426985 RCV004639187 RCV002354620 RCV000567906 RCV004020704 RCV002415910 RCV000219515 RCV000215802 RCV000214057 RCV000215196 RCV000218228 RCV000213425 RCV000223113 RCV000216819 RCV000220801 RCV000216790 RCV000214230 RCV000218055 RCV000219180 RCV000216550 RCV000221566 RCV000221270 RCV000219289 RCV002365174 RCV002378968 RCV002390600 RCV000566136 RCV001012626 RCV000567328 RCV002429092 RCV003165032 RCV003176303 RCV003172121 RCV003172125 RCV003172134 RCV003172145 RCV003172146 RCV003172147 RCV003172149 RCV001017507 RCV003186451 RCV002418094 RCV003293673 RCV005251354 RCV003360646 RCV003360652 RCV003360655 RCV006411837 RCV004636742 RCV005363118 RCV005602043 RCV005602044 RCV004364760 RCV006411843 RCV004364763 RCV004943049 RCV004943050 RCV004634266 RCV003585406 RCV004943051 RCV005377384 RCV004636744 RCV003482213 RCV003482214 RCV006411873 RCV003584419 RCV003584428 RCV003584437 RCV003584441 RCV003584446 RCV003584447 RCV000130936 RCV002381257 RCV000129328 RCV000215121 RCV000115485 RCV002415421 RCV000570680 RCV000162472 RCV002408469 RCV000213700 RCV000132445 RCV005602611 RCV004522864 RCV004522895 RCV004522901 RCV004522910 RCV004522911 RCV004522913 RCV002418230 RCV000568411 RCV001183269 RCV002348162 RCV002411310 RCV000220712 RCV002408475 RCV002356650 RCV000580763 RCV005372317 RCV001014958 RCV000775716 RCV005372315 RCV001016320 RCV005372316 RCV002367647 RCV002374888 RCV002418500 RCV002438176 RCV001026566 RCV000573704 RCV000574078 RCV001184206 RCV004943918 RCV002418496 RCV002431389 RCV002446974 RCV002350116 RCV000567811 RCV005659928 RCV002376915 RCV002383960 RCV002404306 RCV002395211 RCV000774951 RCV000564235 RCV000568453 RCV001524403 RCV002376936 RCV002383979 RCV001011919 RCV001014148 RCV002367731 RCV002395243 RCV000565642 RCV001012628 RCV000132422 RCV000571853 RCV001185776 RCV000569466 RCV002413436 RCV002404368 RCV002420344 RCV005659849 RCV002350171 RCV002376988 RCV002376991 RCV002384037 RCV001011401 RCV001011837 RCV000563359 RCV000574596 RCV000567830 RCV000572553 RCV000567902 RCV000575159 RCV000572982 RCV000564458 RCV000563448 RCV000572200 RCV000569775 RCV000571336 RCV000569357 RCV000567542 RCV000564957 RCV000568418 RCV000573864 RCV000564282 RCV000570936 RCV000572389 RCV000570316 RCV000563162 RCV000562631 RCV000563613 RCV000572907 RCV000575759 RCV000560990 RCV000569650 RCV002255464 RCV000584588 RCV000583004 RCV000584016 RCV000582864 RCV002395503 RCV002413659 RCV001017049 RCV005601037 RCV000213759 RCV004025374 RCV002334053 RCV002420673 RCV002413794 RCV002334218 RCV002388159 RCV001012049 RCV002388162 RCV002397333 RCV003163038 RCV002386152 RCV002331313 RCV002369811 RCV002352166 RCV001014945 RCV002386227 RCV001186208 RCV001013923 RCV002442432 RCV002440464 RCV002332456 RCV002442522 RCV002386200 RCV002334398 RCV001011400 RCV002386318 RCV002352267 RCV002360870 RCV004027160 RCV002422640 RCV001012378 RCV000774007 RCV000774950 RCV000773592 RCV000777323 RCV000772614 RCV001024107 RCV002408997 RCV003307532 RCV002397666 RCV002381842 RCV002422677 RCV002422776 RCV001014284 RCV002345773 RCV002422709 RCV002416266 RCV001024187 RCV001019547 RCV001012775 RCV001014185 RCV001015325 RCV001016935 RCV001020612 RCV001021206 RCV001022778 RCV001023826 RCV001025597 RCV001025765 RCV001026562 RCV001010451 RCV001010466 RCV001010600 RCV001010969 RCV001011520 RCV001012321 RCV001013347 RCV001013458 RCV001014288 RCV001014344 RCV001014572 RCV001014786 RCV001014374 RCV001022650 RCV001024129 RCV001012105 RCV001012106 RCV002374922 RCV002409412 RCV002409440 RCV002355043 RCV005367675 RCV004031329 RCV003584807 RCV002379643 RCV002339395 RCV002418578 RCV001806025 RCV001179228 RCV001176427 RCV001181516 RCV001190091 RCV001189196 RCV001186811 RCV002418768 RCV002339558 RCV002356902 RCV002322102 RCV002411851 RCV002327538 RCV000132376 RCV001016999 RCV002345378 RCV001017045 RCV000214854 RCV002390211 RCV002390212 RCV002390213 RCV003162481 RCV000166148 RCV002399429 RCV002390214 RCV002426629 RCV000129232 RCV004943740 RCV001176886 RCV002354257 RCV000776333 RCV002331956 RCV000165649 RCV002336222 RCV000579501 RCV002362706 RCV002362707 RCV000571335 RCV005600638 RCV002381378 RCV000580384 RCV004019099 RCV002381379 RCV000165092 RCV002390215 RCV000220831 RCV002390216 RCV000162473 RCV002390217 RCV004019100 RCV005401322 RCV002390218 RCV004943741 RCV000128870 RCV001011841 RCV000162490 RCV002390219 RCV002399430 RCV002399431 RCV001012097 RCV002399432 RCV002399433 RCV001012154 RCV002399434 RCV004943742 RCV002399435 RCV001012121 RCV000213962 RCV002399436 RCV001180387 RCV000130099 RCV002390220 RCV000567360 RCV002399437 RCV002397764 RCV002399438 RCV002401133 RCV002399439 RCV002399440 RCV000570739 RCV002399441 RCV000214110 RCV002399442 RCV002399443 RCV002399444 RCV001012704 RCV002408574 RCV002399445 RCV005425717 RCV002408575 RCV000574302 RCV002408576 RCV002408577 RCV006406650 RCV001012888 RCV000132025 RCV002408578 RCV002399446 RCV002357055 RCV002327604 RCV002399448 RCV002399449 RCV002401601 RCV001175812 RCV000573311 RCV005672318 RCV000572736 RCV001013138 RCV000565193 RCV002255277 RCV002408579 RCV000574309 RCV000217644 RCV000165622 RCV000217973 RCV002408581 RCV002408582 RCV000571618 RCV000160535 RCV001013518 RCV002408583 RCV001013523 RCV002408584 RCV001013527 RCV000570210 RCV004943743 RCV005600641 RCV002408586 RCV002408587 RCV000569430 RCV002408588 RCV004019102 RCV000221413 RCV002408589 RCV000564174 RCV002415523 RCV003584541 RCV002415524 RCV000128869 RCV002415525 RCV000572238 RCV001013906 RCV002415526 RCV004943744 RCV001180388 RCV002415527 RCV001525221 RCV002415528 RCV001013970 RCV004943745 RCV002415529 RCV000128871 RCV002415530 RCV000214195 RCV002415531 RCV002415532 RCV000576150 RCV002419706 RCV001014093 RCV000215088 RCV000573665 RCV002415533 RCV001014231 RCV000215428 RCV000128866 RCV002415534 RCV001014311 RCV002415535 RCV004943746 RCV002415536 RCV000562969 RCV002415537 RCV002415538 RCV002415539 RCV002415540 RCV002415541 RCV000446141 RCV000217603 RCV001014446 RCV002415543 RCV002415544 RCV001014440 RCV002415545 RCV000581002 RCV002415546 RCV000565355 RCV000165669 RCV006386751 RCV002426630 RCV005672319 RCV000164558 RCV000569577 RCV000564805 RCV000567584 RCV002426632 RCV000574085 RCV000216146 RCV000213486 RCV004522890 RCV002444529 RCV000220766 RCV000562335 RCV002453383 RCV004019103 RCV000166056 RCV000222555 RCV002433575 RCV002453384 RCV003362685 RCV002433577 RCV002433578 RCV003162483 RCV000568721 RCV000216042 RCV002444531 RCV001018363 RCV002444532 RCV002319436 RCV002321563 RCV001019260 RCV002321564 RCV000569088 RCV006406651 RCV002345379 RCV000162469 RCV002362708 RCV001021188 RCV002354258 RCV002354259 RCV000221216 RCV003585193 RCV002354260 RCV002354261 RCV002354262 RCV003162485 RCV000215403 RCV001021735 RCV002326787 RCV002326788 RCV003162486 RCV001022649 RCV000565961 RCV002336223 RCV000218165 RCV004629149 RCV001187674 RCV002345380 RCV000570187 RCV002345381 RCV000564669 RCV004943748 RCV003162487 RCV001024144 RCV002345382 RCV000162610 RCV002354263 RCV001176887 RCV002354264 RCV001024637 RCV004640903 RCV000572458 RCV000570709 RCV002258789 RCV000160526 RCV003584543 RCV004943749 RCV002362709 RCV002362710 RCV002371907 RCV001183308 RCV002362711 RCV000222833 RCV001025630 RCV000132197 RCV000708610 RCV002362712 RCV000569823 RCV001025640 RCV000772326 RCV000575040 RCV000220921 RCV000573119 RCV001183309 RCV002399450 RCV001183310 RCV000562275 RCV000564973 RCV001026933 RCV002415547 RCV000562561 RCV002415548 RCV001026934 RCV001183311 RCV000115486 RCV000579445 RCV000567864 RCV000160552 RCV002444533 RCV002444534 RCV002444535 RCV002444536 RCV002371908 RCV005659852 RCV000218998 RCV002371909 RCV000574927 RCV002371910 RCV000561374 RCV000221867 RCV001018387 RCV000215143 RCV000132040 RCV003362686 RCV002371911 RCV002371912 RCV004019106 RCV004639135 RCV002371914 RCV001019484 RCV000166394 RCV002381381 RCV002381382 RCV002379952 RCV002339694 RCV002366090 RCV002379953 RCV002447237 RCV002451626 RCV002379974 RCV002395659
Hereditary nonpolyposis colon cancer	Likely pathogenic; Pathogenic	rs267607816, rs2471430754, rs2125984944, rs2125773395, rs2125903643, rs2125885422, rs587782265, rs267607712, rs786202767, rs863225378, rs876658657, rs878853785, rs2471183536, rs2471502728, rs2471049378, rs2470928987, rs2470756691, rs63750217, rs2470920526, rs1057517541, rs267607825, rs1553662753, rs1553647995, rs550890395, rs1434898623, rs63751194, rs267607759, rs63751715, rs63751592, rs63750855, rs267607837, rs267607843, rs63751460, rs63751657, rs63749863, rs63749868, rs63750035, rs63750604, rs63750486, rs63749986, rs63751632, rs63749792, rs63751310, rs587778964, rs63750206, rs587778972, rs63749995, rs63750603, rs267607892, rs63749859, rs63750437, rs587778998, rs63750005, rs63750266, rs63750453, rs72481822, rs63750211, rs267607760, rs587779022, rs63750648, rs267607768, rs267607778, rs63751711, rs63750823, rs63750822, rs267607791, rs63751707, rs63749906	RCV002242785 RCV004701064 RCV001582358 RCV001779436 RCV001797872 RCV001825156 RCV002298481 RCV001255219 RCV003387783 RCV000586714 RCV005237737 RCV005238754 RCV003236390 RCV003236391 RCV003321469 RCV003405150 RCV004587495 RCV001328323 RCV004527140 RCV001731666 RCV001844173 RCV003330732 RCV005900933 RCV004701606 RCV003387872 RCV005236499 RCV001532969 RCV006262326 RCV004782044 RCV002281908 RCV001260355 RCV001192571 RCV005237501 RCV001193241 RCV005238006 RCV001192578 RCV001553748 RCV003230396 RCV001199947 RCV002307389 RCV003492411 RCV001193960 RCV001260354 RCV001193961 RCV001193959 RCV003226186 RCV005237503 RCV001290649 RCV005237504 RCV005055565 RCV001549279 RCV001269209 RCV001192575 RCV006263655 RCV004782045 RCV001778703 RCV002281909 RCV000781538 RCV001293607 RCV005646855 RCV005406805 RCV002271399 RCV005417453 RCV001255542 RCV001193208 RCV005406806 RCV001290676 RCV001193211 RCV002509199 RCV005237505 RCV004562243 RCV005236736
Hereditary nonpolyposis colorectal carcinoma	Likely pathogenic	rs1209098685	RCV002508981
Hereditary nonpolyposis colorectal neoplasms	Pathogenic; Likely pathogenic	rs2084805279, rs2125710774, rs267607755, rs267607867, rs267607816, rs587778911, rs2125693612, rs2125693787, rs2125711087, rs2125711616, rs2125711634, rs1575440595, rs2125822944, rs2125823340, rs2125823466, rs2125837477, rs2125852740, rs2125853842, rs2125887070, rs2125901597, rs1575552976, rs2125902896, rs2125957824, rs2125985283, rs2125986083, rs2125990255, rs2125991131, rs267607883, rs2125993386, rs2125993577, rs2125993656, rs1064793177, rs2148512263, rs2148522316, rs267607750, rs1064795693, rs587779950, rs2125783563, rs56185292, rs2125694695, rs2125886028, rs2125735738, rs2125882042, rs2125809242, rs2125822971, rs2148524462, rs2125837018, rs2125821720, rs2083453557, rs587780683, rs2125694037, rs2125945833, rs267607831, rs2125693198, rs2125902746, rs2125693589, rs2081173076, rs2125808143, rs2148522723, rs2125772569, rs2125993690, rs2083402714, rs1559578422, rs2148523658, rs2125900759, rs2080897397, rs2125958240, rs2125984506, rs2083454135, rs2125985001, rs2125984234, rs2125837110, rs2148521826, rs2125883954, rs74396541, rs267607713, rs2125958173, rs2125902731, rs267607789, rs587781554, rs267607712, rs267607745, rs2125694907, rs730881734, rs63751595, rs41542214, rs2470672411, rs267607751, rs2471013728, rs2470966392, rs2470672727, rs2125837128, rs267607716, rs786202328, rs2470601695, rs267607786, rs786203456, rs786201990, rs63750547, rs2471050452, rs2471345191, rs63751616, rs550914672, rs2471317811, rs2471438507, rs864622457, rs2471474292, rs2471473234, rs2471506643, rs2471479049, rs2148512428, rs267607795, rs267607772, rs2470921405, rs786202774, rs2471124397, rs2471049007, rs587778893, rs2471478767, rs2471434395, rs2471428511, rs2471347691, rs2470842445, rs2470842683, rs267607744, rs63750079, rs1114167435, rs2471504110, rs2471505837, rs2471124645, rs63749990, rs2470963226, rs2470754764, rs2471462609, rs2470778520, rs863224480, rs63750549, rs63751202, rs1553648091, rs863225383, rs863225384, rs863225377, rs863225378, rs863225381, rs2471344790, rs2471122096, rs2470759206, rs2125985473, rs2471012759, rs2471427303, rs2471115296, rs2471010539, rs2471319061, rs267607895, rs63750059, rs267607823, rs267607832, rs869312767, rs876661159, rs63749818, rs267607732, rs876658915, rs267607878, rs876658962, rs876658339, rs876658657, rs876658821, rs876659068, rs63750217, rs876659681, rs876659608, rs63750057, rs878853792, rs878853794, rs878853777, rs878853778, rs878853780, rs878853785, rs878853787, rs1553640314, rs886039424, rs2471504543, rs2471048062, rs587779031, rs2470965173, rs2470961762, rs2471052394, rs755401753, rs2471121964, rs2471477155, rs2471116589, rs63749813, rs2471319263, rs267607734, rs2470965301, rs2471056444, rs2471501994, rs2471475191, rs2471054265, rs2471012485, rs2471459701, rs2470757051, rs2471507912, rs2471461367, rs63750641, rs2082970808, rs2470871310, rs2471177072, rs63750413, rs2471120878, rs2471425990, rs781178304, rs2470926693, rs2470599000, rs2471124959, rs63750706, rs2471475553, rs2471011491, rs63751247, rs63750710, rs63751615, rs63750781, rs63750899, rs63750691, rs63749939, rs2470920526, rs193922370, rs1057517541, rs756843954, rs267607765, rs63751194, rs63750693, rs1060500689, rs764085979, rs1060500707, rs1064792918, rs1060500698, rs1060500699, rs1060500706, rs63750867, rs267607815, rs1060500688, rs1060500703, rs1060500692, rs1060500687, rs1064795341, rs63750822, rs1064793607, rs587778968, rs1064795441, rs267607794, rs1064794612, rs1064795515, rs267607825, rs1064794267, rs1064793823, rs1064794331, rs63750978, rs1553641362, rs63751448, rs1553648058, rs587778937, rs1553662753, rs1553647995, rs1553663750, rs63750443, rs63751596, rs63750540, rs63751094, rs1553646681, rs1553647894, rs1553648195, rs63751221, rs1553653158, rs267607856, rs267607852, rs550890395, rs1064796057, rs1553651130, rs1553662800, rs267607709, rs1553665467, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1553652930, rs1434898623, rs1553665683, rs63751137, rs1553642777, rs1553648068, rs1553644123, rs1553648149, rs1302248679, rs63750610, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664702, rs1553647969, rs1437454428, rs63751101, rs1553646764, rs1553648225, rs63749792, rs1553648201, rs63750206, rs1253275403, rs397514684, rs1553638868, rs1553663981, rs1553644277, rs267607722, rs63751657, rs1553665866, rs1553652883, rs63751435, rs1553653195, rs1553662622, rs1553658104, rs1553648220, rs267607706, rs1559543768, rs587779024, rs1559544064, rs267607901, rs63750584, rs1559524070, rs1559530646, rs1553645226, rs1559551570, rs1559575107, rs1559597322, rs267607726, rs1060500702, rs1559539489, rs1559553501, rs1559558071, rs587778978, rs1559521039, rs1559574795, rs267607884, rs1575376458, rs1575376830, rs1575395515, rs63750507, rs1575469070, rs1575481212, rs1575537843, rs1575620443, rs1575621386, rs1575621506, rs63751662, rs63750740, rs1386031101, rs1575640892, rs587779022, rs267607805, rs1575628928, rs1575414321, rs1575414904, rs1575448385, rs1575469505, rs1466223609, rs63750198, rs1575639851, rs1575640960, rs1575449402, rs2080898853, rs2080899985, rs2081922847, rs2083403132, rs2083405700, rs2085310643, rs2085311497, rs2085415927, rs2085469647, rs267607759, rs267607768, rs2082517369, rs267607819, rs267607743, rs267607753, rs2081162085, rs1553638767, rs2081170615, rs2080886738, rs2082532798, rs2085425585, rs2082049708, rs2082057042, rs2082994980, rs2083416349, rs2083706682, rs2084634023, rs2084804331, rs587779027, rs63750580, rs63750850, rs2083411159, rs587779001, rs63750677, rs63750339, rs63751609, rs63751715, rs267607822, rs587778882, rs587778883, rs63751012, rs63750715, rs587778888, rs267607710, rs587778894, rs63750749, rs63750483, rs587778896, rs63751015, rs63751153, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs63750713, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607837, rs267607836, rs63750028, rs587778930, rs63751277, rs587778933, rs267607843, rs63750192, rs63750300, rs63750193, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs63751608, rs267607853, rs267607850, rs267607854, rs2080909702, rs63751653, rs2083412120, rs587778942, rs63750587, rs63749863, rs63749868, rs63750035, rs63750604, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63750152, rs267607869, rs63751632, rs267607871, rs587778956, rs267607875, rs281864938, rs63751465, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs63750639, rs587778967, rs63750663, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607717, rs587778973, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs267607888, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63751642, rs63751022, rs587778983, rs587778984, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607892, rs63749859, rs63750437, rs587778997, rs587778998, rs63750005, rs63751421, rs63750266, rs111052004, rs63750453, rs267607735, rs63751665, rs63749816, rs63750539, rs587779006, rs63751606, rs587779008, rs267607742, rs63750866, rs63750865, rs587779010, rs587779012, rs72481822, rs587779014, rs587779015, rs63751045, rs63749820, rs267607749, rs63750891, rs63749959, rs63749804, rs63750903, rs63750211, rs267607760, rs587779021, rs63750515, rs63750648, rs63751480, rs267607767, rs63750581, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs267607785, rs267607783, rs63750823, rs267607787, rs63750303, rs587779037, rs63750948, rs63749827, rs587779039, rs267607790, rs267607791, rs267607788, rs63750792, rs63749950, rs587779045, rs63750034, rs587779047, rs63750216, rs63750517, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs63750489, rs587779054, rs587779055, rs63751259, rs63749926, rs63750796, rs587779058, rs63751197, rs63749906, rs2083448445	RCV001324069 RCV002548498 RCV003759047 RCV002548511 RCV001379462 RCV001378407 RCV001382311 RCV001387429 RCV001386567 RCV001386912 RCV001383721 RCV001380652 RCV001382366 RCV001390350 RCV001388367 RCV001384145 RCV001384523 RCV001390839 RCV001383027 RCV001390417 RCV001381134 RCV001381271 RCV001386211 RCV001388319 RCV001390190 RCV001380168 RCV001390802 RCV001382310 RCV001388965 RCV001381715 RCV001384817 RCV001380411 RCV001381992 RCV001383687 RCV001885113 RCV001869559 RCV001062062 RCV001897309 RCV001923315 RCV001928450 RCV001994549 RCV001999897 RCV001941699 RCV001941793 RCV001871284 RCV001960433 RCV001875472 RCV001905148 RCV001892987 RCV000122975 RCV001961904 RCV002017266 RCV001973811 RCV002022489 RCV001907662 RCV001927507 RCV002047856 RCV001874494 RCV001994769 RCV001993221 RCV001874799 RCV001960741 RCV002012743 RCV002002488 RCV001998972 RCV002016807 RCV001863981 RCV001946647 RCV001949328 RCV001906460 RCV001947077 RCV001927712 RCV001982931 RCV001903658 RCV001956545 RCV001980735 RCV001974560 RCV001882270 RCV001849921 RCV000168452 RCV000200647 RCV003094209 RCV005096447 RCV003103288 RCV000630113 RCV000473283 RCV000531300 RCV003096702 RCV003094743 RCV003759649 RCV003759157 RCV003099894 RCV003759647 RCV001850323 RCV005089809 RCV003594235 RCV003758711 RCV002516509 RCV001213405 RCV003103537 RCV003103576 RCV005058671 RCV005097724 RCV003594252 RCV003097048 RCV003594276 RCV003594285 RCV003594283 RCV003594279 RCV003097427 RCV003759717 RCV005097938 RCV003101056 RCV000692531 RCV003084862 RCV002651654 RCV002651657 RCV003112148 RCV002575931 RCV002705298 RCV002706380 RCV002785349 RCV002824431 RCV002825150 RCV002819809 RCV002851145 RCV002856128 RCV002811716 RCV002847772 RCV002858719 RCV002881662 RCV002877053 RCV002866442 RCV002848396 RCV002898989 RCV002899226 RCV002900076 RCV002872339 RCV001215259 RCV001383382 RCV000200648 RCV002996670 RCV002517340 RCV000531603 RCV001853252 RCV000475245 RCV001067402 RCV003008391 RCV003031113 RCV003005674 RCV003031622 RCV003019535 RCV003029071 RCV003030586 RCV003025002 RCV003040878 RCV003040929 RCV001853279 RCV000205947 RCV000205488 RCV000204627 RCV001389945 RCV000820368 RCV002516198 RCV001380045 RCV001379076 RCV001854748 RCV000558644 RCV001857772 RCV003593939 RCV000473970 RCV000538190 RCV001046872 RCV001378196 RCV000543770 RCV000535128 RCV001380004 RCV001388953 RCV001389785 RCV001390761 RCV000231982 RCV001378975 RCV000232267 RCV000226996 RCV000630134 RCV000630152 RCV003594680 RCV005100138 RCV005100139 RCV003594683 RCV005100140 RCV005100142 RCV005100143 RCV005100144 RCV003594684 RCV005100145 RCV003759866 RCV003759867 RCV003594685 RCV003759868 RCV005100146 RCV003759869 RCV003594842 RCV003594799 RCV003594833 RCV003594946 RCV003594894 RCV003595485 RCV003595559 RCV003593629 RCV003593709 RCV003594341 RCV003594608 RCV003594423 RCV003594618 RCV005100362 RCV003760865 RCV003760895 RCV003760822 RCV003760997 RCV003758415 RCV003758521 RCV003758543 RCV003759230 RCV003759246 RCV003862503 RCV000524254 RCV005089272 RCV000524311 RCV000524293 RCV001040524 RCV000704907 RCV000524270 RCV000524267 RCV005100812 RCV000684811 RCV000684819 RCV001865278 RCV001851043 RCV000524317 RCV001851995 RCV000470067 RCV003153579 RCV003153593 RCV000463386 RCV000463125 RCV000457950 RCV003153591 RCV003153594 RCV000456976 RCV003153581 RCV003153589 RCV003153583 RCV003153580 RCV000539800 RCV000686674 RCV001851154 RCV001221033 RCV000629893 RCV002525803 RCV002525845 RCV001865465 RCV000548182 RCV001851180 RCV005090934 RCV000823748 RCV000817498 RCV001242292 RCV001857064 RCV001212266 RCV001242154 RCV003758801 RCV001387937 RCV001857251 RCV001389538 RCV001216357 RCV000700958 RCV001046224 RCV000524235 RCV000553834 RCV000546087 RCV000535475 RCV000530596 RCV000524287 RCV000550950 RCV000550081 RCV000542173 RCV000559860 RCV001067834 RCV000549251 RCV000531353 RCV000545280 RCV000546335 RCV000538907 RCV000531105 RCV000555189 RCV000531237 RCV000528881 RCV000549426 RCV000536389 RCV000544037 RCV000529104 RCV000536108 RCV000533581 RCV000818030 RCV003758825 RCV003593990 RCV000629784 RCV000706318 RCV000700235 RCV003758809 RCV003758841 RCV001858295 RCV000698261 RCV005091379 RCV003593985 RCV002530351 RCV005091380 RCV001062982 RCV001860084 RCV001206251 RCV001207961 RCV000791474 RCV000700612 RCV003594010 RCV003153327 RCV000630137 RCV000629683 RCV000629865 RCV000629690 RCV000630220 RCV000629812 RCV000630115 RCV003758895 RCV001384795 RCV000791767 RCV002536317 RCV003594014 RCV003594019 RCV003758909 RCV001861879 RCV000697484 RCV000705675 RCV000701901 RCV000690543 RCV000704184 RCV000690959 RCV000698262 RCV000695829 RCV000690221 RCV000705517 RCV000688953 RCV000693617 RCV000696093 RCV000685396 RCV000703589 RCV000692188 RCV001247047 RCV005092184 RCV001211814 RCV001065998 RCV001856057 RCV003594036 RCV001036557 RCV000820906 RCV000824414 RCV000794172 RCV000817046 RCV000816274 RCV000811109 RCV000817911 RCV000799665 RCV000811702 RCV000794227 RCV000791765 RCV000808710 RCV000821078 RCV000796222 RCV000800922 RCV000798493 RCV000803892 RCV000796149 RCV001240989 RCV003117660 RCV003758972 RCV002549535 RCV001050056 RCV001862335 RCV001873399 RCV003594086 RCV005093111 RCV002550799 RCV001213149 RCV001052281 RCV001054139 RCV001054197 RCV001048428 RCV001068446 RCV001046404 RCV001066380 RCV001052716 RCV001044636 RCV001058830 RCV001055599 RCV001036359 RCV001043712 RCV001045293 RCV001050430 RCV001875928 RCV003594099 RCV001387612 RCV001862943 RCV001214519 RCV001217079 RCV001222758 RCV001213971 RCV001201923 RCV001206422 RCV001205461 RCV001209689 RCV001212952 RCV001203982 RCV001208403 RCV001210948 RCV001228630 RCV001230871 RCV001226575 RCV000695005 RCV000791451 RCV003153345 RCV003593873 RCV002514334 RCV000629976 RCV001201713 RCV002514335 RCV000694270 RCV003593874 RCV001202542 RCV000693918 RCV002514336 RCV001034681 RCV000688444 RCV001206557 RCV002514337 RCV000694368 RCV001034673 RCV000524227 RCV001383026 RCV001034659 RCV000698961 RCV003593875 RCV000541219 RCV001216631 RCV000815020 RCV000690382 RCV002514338 RCV005089505 RCV002514339 RCV001854289 RCV001059158 RCV001854290 RCV000524237 RCV002513800 RCV000524238 RCV000553242 RCV001214512 RCV001069994 RCV000524240 RCV000557252 RCV000684774 RCV001233848 RCV000699744 RCV001854291 RCV000813027 RCV001238289 RCV000539690 RCV000799045 RCV000524243 RCV001201368 RCV000533345 RCV000629762 RCV001344767 RCV002513801 RCV000545817 RCV002545235 RCV001201351 RCV002514340 RCV001212034 RCV001201384 RCV000629693 RCV001854292 RCV000791445 RCV000703498 RCV001240104 RCV000524872 RCV000698457 RCV002514341 RCV000693129 RCV000685725 RCV000797048 RCV001201385 RCV000524246 RCV002514342 RCV001386351 RCV001246456 RCV001248577 RCV001248002 RCV003593878 RCV000524249 RCV003593879 RCV000694036 RCV000684798 RCV003153348 RCV001381499 RCV001201372 RCV000694109 RCV000548274 RCV000798031 RCV001201390 RCV000692128 RCV000694220 RCV000541555 RCV000684807 RCV001854293 RCV000524256 RCV000524638 RCV003758686 RCV000791363 RCV000821758 RCV000812087 RCV000560442 RCV001201396 RCV001203288 RCV001201909 RCV000524261 RCV001064800 RCV005089506 RCV000524263 RCV000691557 RCV001054272 RCV000794468 RCV001040247 RCV000075461 RCV000524264 RCV003593880 RCV001854294 RCV000690743 RCV002514344 RCV000524266 RCV000629832 RCV005089507 RCV000529563 RCV000791351 RCV000524268 RCV000698693 RCV001209526 RCV000524272 RCV000627707 RCV001854295 RCV001210840 RCV000629825 RCV001854296 RCV000524274 RCV001059462 RCV001380412 RCV000706709 RCV001854297 RCV001380413 RCV001380414 RCV003593881 RCV001854298 RCV000694604 RCV001314807 RCV000793513 RCV000686456 RCV000698898 RCV001044497 RCV000694232 RCV003593882 RCV000524280 RCV001233676 RCV000558933 RCV000798201 RCV000817894 RCV001040530 RCV000627694 RCV000524282 RCV000817018 RCV001854300 RCV000791362 RCV000692257 RCV001379075 RCV000542720 RCV000630024 RCV001201354 RCV002513802 RCV001854301 RCV003593883 RCV001211883 RCV000807476 RCV000544543 RCV001045822 RCV001048439 RCV002514345 RCV001045287 RCV000627728 RCV000075665 RCV003593884 RCV001230876 RCV000696247 RCV000524296 RCV001215653 RCV000686990 RCV001235385 RCV005089510 RCV001381184 RCV002038998 RCV003593885 RCV001235123 RCV000554881 RCV003153350 RCV003593886 RCV001240471 RCV000551153 RCV000704046 RCV000524301 RCV001854302 RCV005089511 RCV000684801 RCV001039846 RCV003593887 RCV000684818 RCV003153351 RCV001202202 RCV001854303 RCV001854304 RCV000629970 RCV001385098 RCV000791372 RCV001854305 RCV001854306 RCV000550590 RCV000627715 RCV001382873 RCV001070764 RCV000524306 RCV001056193 RCV000811318 RCV001390389 RCV001854307 RCV001231615 RCV000533036 RCV001034678 RCV000812851 RCV001854308 RCV000524312 RCV000524313 RCV003593888 RCV001380125 RCV000629884 RCV003593889 RCV000811317 RCV000817865 RCV000629958 RCV001210008 RCV001046434 RCV000629770 RCV001854309 RCV001379077 RCV000524316 RCV001382874 RCV000812444 RCV000700043 RCV003153352 RCV001388082 RCV000543128 RCV001379645 RCV001070683 RCV001380943 RCV001854310 RCV002514346 RCV003153354 RCV003764750 RCV003593890 RCV001388083 RCV003593891 RCV000630228 RCV000818945 RCV001046252 RCV003593892 RCV000629748 RCV000630077 RCV001220885 RCV000627716 RCV000820731 RCV001223223 RCV000529157 RCV001380864 RCV000629737 RCV001388084 RCV001034666 RCV001383394 RCV002513803 RCV001879818 RCV005094327 RCV001303225
Inherited MMR deficiency (Lynch syndrome)	Likely pathogenic; Pathogenic	rs267607732, rs63750781, rs63750217, rs2471178941, rs63751221, rs1481129490, rs63749795, rs63749900, rs63751022, rs267607894, rs267607749, rs63751711, rs63751598, rs63751197	RCV006277756 RCV004584176 RCV005865086 RCV005865706 RCV006277661 RCV005863267 RCV006261949 RCV005252732 RCV006277701 RCV005859493 RCV005646854 RCV006276063 RCV005055065 RCV006439625
Lung cancer	Pathogenic	rs63751707	RCV005890452
Lynch syndrome	Pathogenic; Likely pathogenic	rs2125805231, rs2125693612, rs587781518, rs587781554, rs267607712, rs2470672531, rs41542214, rs267607819, rs2470675868, rs2148512428, rs267607795, rs863224480, rs863225383, rs63750059, rs267607832, rs869312767, rs876661159, rs876660860, rs876659681, rs63750057, rs878853792, rs878853794, rs878853777, rs1553653237, rs587779031, rs2470756691, rs755401753, rs2471429550, rs63751109, rs63751247, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs1553647894, rs2470965024, rs2470602625, rs2471178941, rs193922370, rs1057517541, rs63751194, rs63750693, rs63750978, rs1553642657, rs1553642698, rs1553645256, rs1553647928, rs1553648029, rs1553648058, rs587778903, rs1553651429, rs587778937, rs1553664506, rs1553648047, rs63750310, rs63750540, rs63751221, rs267607856, rs746536721, rs1553664119, rs1416171624, rs63751101, rs1553648225, rs1553648201, rs1253275403, rs1559575107, rs1060500702, rs1559553501, rs1559558071, rs72481822, rs1559539068, rs267607745, rs267607751, rs267607767, rs267607784, rs267607771, rs587778978, rs1559544297, rs1481129490, rs63751662, rs147542208, rs2085261656, rs63750434, rs63750677, rs63750339, rs63749837, rs587778881, rs63749813, rs63751609, rs267607816, rs63751715, rs267607815, rs267607822, rs63749906, rs587778882, rs587778883, rs63750472, rs587778884, rs587778885, rs63751012, rs63750715, rs63750305, rs63750580, rs587778887, rs587778888, rs587778889, rs267607706, rs63749965, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs587778896, rs63751015, rs587778898, rs587778899, rs587778900, rs63751153, rs63751094, rs63751118, rs63750293, rs63750316, rs63751431, rs63750748, rs63749845, rs63749981, rs587778905, rs587778906, rs63750071, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs587778911, rs63751592, rs63751677, rs281864936, rs63751468, rs587778912, rs63750482, rs587778913, rs587778914, rs587778915, rs63749795, rs587778918, rs63749876, rs587778919, rs63750098, rs63750855, rs63751435, rs63749956, rs63749916, rs63749923, rs63751472, rs587778922, rs63750317, rs63751705, rs587778924, rs587778925, rs63751689, rs587778926, rs267607831, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs63751613, rs587778929, rs587778930, rs587778931, rs63751891, rs63751277, rs587778933, rs267607842, rs587778932, rs63751266, rs63750036, rs63750824, rs63750192, rs587778934, rs63750300, rs63751087, rs267607699, rs587778938, rs63751596, rs267607845, rs267607844, rs587778939, rs63751244, rs63751081, rs63751393, rs63751460, rs63750464, rs267607849, rs63751709, rs63751608, rs63751685, rs267607853, rs267607851, rs267607850, rs63751657, rs267607854, rs267607852, rs63751616, rs587778942, rs63750309, rs63749863, rs587778944, rs63751486, rs63750016, rs63749979, rs63749868, rs63750375, rs63750035, rs63750604, rs587778946, rs63750386, rs63751240, rs587778947, rs587778948, rs63750150, rs63750486, rs63751428, rs35001569, rs587778949, rs267607866, rs63749986, rs587778950, rs63751415, rs63751594, rs63750152, rs63750850, rs587778953, rs63751639, rs587778954, rs267607867, rs267607868, rs267607869, rs63751632, rs267607871, rs587778955, rs63751892, rs587778956, rs587778957, rs63750469, rs587778958, rs587778959, rs587778960, rs63749792, rs267607875, rs63751255, rs587778961, rs587778962, rs63750610, rs281864938, rs63751465, rs63751301, rs267607715, rs63750726, rs63750115, rs63751310, rs63750131, rs63749900, rs63751200, rs587778964, rs267607873, rs267607877, rs267607879, rs267607878, rs587778966, rs267607881, rs267607884, rs267607883, rs63750639, rs267607702, rs63750282, rs63750061, rs63750740, rs63750663, rs587778968, rs587778971, rs63750809, rs63750281, rs63749867, rs587778972, rs63751275, rs63751704, rs63750420, rs267607718, rs267607719, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63751652, rs63750114, rs267607888, rs63750603, rs267607889, rs63751651, rs587778979, rs267607723, rs587778980, rs63749829, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs587778982, rs587778983, rs63750971, rs587778984, rs63750484, rs267607898, rs267607906, rs267607903, rs587778989, rs267607897, rs587778992, rs267607896, rs267607894, rs267607892, rs1553666143, rs63749859, rs587778996, rs63750437, rs63750052, rs587778997, rs587778998, rs267607729, rs63750005, rs63750641, rs63751421, rs267607728, rs11541859, rs63751691, rs111052004, rs267607726, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750507, rs63750539, rs63750645, rs63750906, rs267607739, rs63750658, rs63750542, rs587779006, rs63751606, rs63751607, rs587779008, rs63750081, rs267607742, rs63751595, rs267607743, rs63750866, rs267607746, rs63750865, rs63751710, rs587779009, rs587779012, rs63749818, rs63751124, rs587779013, rs587779014, rs587779015, rs63751045, rs63749820, rs63751302, rs63751131, rs267607750, rs267607749, rs267607753, rs1553642492, rs63750891, rs267607754, rs267607755, rs587779018, rs63749959, rs63749944, rs587779019, rs63749804, rs63750903, rs63750211, rs267607765, rs267607760, rs587779021, rs587779022, rs267607759, rs63750515, rs587779023, rs63751480, rs63750500, rs267607772, rs267607773, rs587779024, rs267607768, rs63751653, rs587779027, rs63751637, rs587779029, rs63750581, rs63750706, rs63750908, rs63750380, rs63750385, rs267607774, rs267607778, rs267607779, rs267607780, rs63751711, rs587779032, rs587779033, rs587779035, rs267607783, rs587779036, rs63750823, rs63750822, rs63751659, rs63750764, rs63751396, rs267607787, rs63750303, rs587779037, rs63750948, rs63749838, rs63749839, rs63750819, rs63749827, rs63749828, rs63751283, rs587779039, rs587779040, rs267607789, rs267607798, rs267607790, rs267607791, rs267607792, rs267607794, rs587779041, rs267607788, rs587779042, rs267607799, rs267607801, rs587779043, rs63751439, rs63750792, rs63750938, rs63749950, rs587779045, rs63750889, rs63750212, rs63750034, rs587779047, rs63750216, rs63750517, rs63751707, rs63751598, rs267607806, rs267607777, rs63750144, rs587779050, rs1553647795, rs267607805, rs63750547, rs63751620, rs267607809, rs63750736, rs63750489, rs587779052, rs63750993, rs587779054, rs63750962, rs587779055, rs63750319, rs63751259, rs63749926, rs63750796, rs587779058, rs63750533, rs63750745	RCV001356007 RCV004006849 RCV000491027 RCV000781543 RCV000780423 RCV005356105 RCV000708931 RCV004017932 RCV004007362 RCV004007397 RCV000168716 RCV000195440 RCV004017484 RCV000204126 RCV000781542 RCV000210198 RCV000587441 RCV000586133 RCV003997961 RCV000234014 RCV000231231 RCV000228583 RCV000229125 RCV004011325 RCV005629689 RCV005629690 RCV005439132 RCV004011496 RCV000075169 RCV000075383 RCV000075954 RCV000075801 RCV000075475 RCV000075666 RCV000075432 RCV000075875 RCV000075495 RCV000075101 RCV000075482 RCV004018076 RCV004018088 RCV004018089 RCV004018116 RCV000472090 RCV003995908 RCV000075872 RCV000075389 RCV000588239 RCV000500972 RCV000504116 RCV000501934 RCV000499489 RCV000503120 RCV000500035 RCV000502293 RCV000504350 RCV000499458 RCV000500061 RCV000586959 RCV005367366 RCV000030213 RCV000030223 RCV000758580 RCV000030226 RCV004806403 RCV004001191 RCV005357653 RCV000780415 RCV000588814 RCV000586802 RCV000589590 RCV003447545 RCV000780424 RCV000781989 RCV003999578 RCV000780421 RCV000758583 RCV000758568 RCV000758573 RCV000758639 RCV000758640 RCV000758641 RCV000758642 RCV000758644 RCV000758582 RCV000780413 RCV000781999 RCV000782000 RCV004001556 RCV005629588 RCV001171464 RCV000075071 RCV000075072 RCV000075073 RCV000075075 RCV000075076 RCV000075077 RCV000075078 RCV000075079 RCV000075082 RCV000075085 RCV000075086 RCV000075087 RCV000075088 RCV000075090 RCV000075091 RCV000075099 RCV000075100 RCV000075102 RCV000075103 RCV000075105 RCV000075106 RCV000075107 RCV000075110 RCV000075111 RCV000075112 RCV000075114 RCV000075115 RCV000075117 RCV000075118 RCV000075120 RCV000075121 RCV000075122 RCV000075127 RCV000075129 RCV000075144 RCV000075145 RCV000075146 RCV000075148 RCV000075150 RCV000075151 RCV000075153 RCV000075154 RCV000075156 RCV000675183 RCV000075159 RCV000075162 RCV000075164 RCV000075165 RCV000075168 RCV000075173 RCV000075175 RCV000075176 RCV000075177 RCV000075178 RCV000075180 RCV000075181 RCV000075182 RCV000075183 RCV000075185 RCV000075187 RCV000075192 RCV000075193 RCV000075194 RCV000075201 RCV000075202 RCV000075204 RCV000075205 RCV000075207 RCV000075208 RCV000075210 RCV000075212 RCV000075213 RCV000075214 RCV000075218 RCV000075220 RCV000075221 RCV000075222 RCV000075223 RCV000075226 RCV000075227 RCV000075228 RCV000075230 RCV000075232 RCV000075233 RCV000075235 RCV000075236 RCV000075237 RCV000075238 RCV000075239 RCV000075240 RCV000075241 RCV000075242 RCV000075243 RCV000075246 RCV000075248 RCV000075253 RCV000075254 RCV000075255 RCV000075256 RCV000075257 RCV000075258 RCV000075264 RCV000075267 RCV000075268 RCV000075269 RCV000075270 RCV000075271 RCV000075272 RCV000075273 RCV000075274 RCV000075275 RCV000075276 RCV000075277 RCV000075279 RCV000075280 RCV000075281 RCV000075282 RCV000075283 RCV000075287 RCV000075288 RCV000075289 RCV000075296 RCV000075297 RCV000075298 RCV000075299 RCV000075300 RCV000075301 RCV000075303 RCV000075307 RCV000075308 RCV000075309 RCV000075312 RCV000075313 RCV000075314 RCV000075315 RCV000075319 RCV000075320 RCV000075321 RCV000075322 RCV000075323 RCV000075324 RCV000075326 RCV000075327 RCV000075328 RCV000075331 RCV000075333 RCV000075335 RCV000075336 RCV000075347 RCV000075348 RCV000075349 RCV000075350 RCV000075354 RCV000075355 RCV000075356 RCV000075359 RCV000075360 RCV000075361 RCV000075362 RCV000075363 RCV000075364 RCV000075365 RCV000075367 RCV000075370 RCV000075371 RCV000075373 RCV000075375 RCV000075376 RCV000075377 RCV000075379 RCV000075381 RCV000075386 RCV000075387 RCV000075388 RCV000075390 RCV000075391 RCV000075393 RCV000075395 RCV000075396 RCV000075399 RCV000075400 RCV000075401 RCV000075403 RCV000075404 RCV000075405 RCV000075406 RCV000075407 RCV000075409 RCV000075411 RCV000075413 RCV000075414 RCV000075415 RCV000075417 RCV000075420 RCV000075421 RCV000075422 RCV000075423 RCV000075424 RCV000075425 RCV000075427 RCV000075428 RCV000075429 RCV003997119 RCV000075434 RCV000075435 RCV000075436 RCV000075438 RCV000075439 RCV000075443 RCV000075444 RCV000075445 RCV000075447 RCV000075448 RCV000075449 RCV000075450 RCV000075451 RCV000075454 RCV000075455 RCV000075456 RCV000075457 RCV000075459 RCV000075462 RCV000075464 RCV000075466 RCV000075467 RCV000075468 RCV000075469 RCV000075473 RCV000075474 RCV000075476 RCV000075478 RCV000075480 RCV000075481 RCV000075483 RCV000075484 RCV000075489 RCV000075490 RCV000075492 RCV000075493 RCV000075497 RCV000075499 RCV000075500 RCV000075502 RCV000075505 RCV000075506 RCV000075507 RCV000075508 RCV000075510 RCV000075514 RCV000075515 RCV000075516 RCV000075517 RCV000075523 RCV000075524 RCV000075525 RCV000075526 RCV000075528 RCV000075529 RCV000075530 RCV000075531 RCV000075534 RCV000075537 RCV000075539 RCV000075540 RCV000075544 RCV000075545 RCV000075546 RCV000075547 RCV000075548 RCV000075550 RCV000075551 RCV000075552 RCV000075553 RCV000075555 RCV000075556 RCV000075557 RCV000075558 RCV000075559 RCV000075561 RCV000075565 RCV000075569 RCV000075570 RCV000075573 RCV000075574 RCV000075577 RCV000075579 RCV000075580 RCV000075582 RCV000075583 RCV000075593 RCV000075595 RCV000075596 RCV000075597 RCV000075598 RCV000075599 RCV000075600 RCV000075602 RCV000075603 RCV000075604 RCV000075606 RCV000075607 RCV000075609 RCV000075610 RCV000075616 RCV000075620 RCV000075623 RCV000075634 RCV000075636 RCV000075641 RCV000075644 RCV000075653 RCV000075654 RCV000075658 RCV000075660 RCV000075661 RCV000075662 RCV000075667 RCV000075669 RCV000075670 RCV000075674 RCV000075675 RCV000075677 RCV000075678 RCV000075679 RCV000075680 RCV000075681 RCV000075682 RCV000075683 RCV000075687 RCV000075688 RCV000075689 RCV000075690 RCV000075692 RCV000075694 RCV000075695 RCV000075696 RCV000075698 RCV000075699 RCV000075702 RCV000075703 RCV000075705 RCV000075706 RCV000075708 RCV000075710 RCV000075712 RCV000075713 RCV000075719 RCV000075720 RCV000075721 RCV000075726 RCV000075730 RCV000075731 RCV000075734 RCV000075735 RCV000075736 RCV000075738 RCV000075739 RCV000075741 RCV000075742 RCV000075743 RCV000075744 RCV000075745 RCV000075747 RCV000075748 RCV000075749 RCV000075753 RCV000075754 RCV000075755 RCV000075756 RCV000075761 RCV000075765 RCV000075767 RCV000075768 RCV000075769 RCV000075770 RCV000075771 RCV000075774 RCV000075776 RCV000075779 RCV000075780 RCV000075783 RCV000075784 RCV000075785 RCV000075786 RCV000075788 RCV000075794 RCV000075797 RCV000075798 RCV000075799 RCV000075800 RCV000075802 RCV000075803 RCV000075804 RCV000075806 RCV000075809 RCV000075810 RCV000075811 RCV000075812 RCV000075813 RCV000075814 RCV000075815 RCV000075817 RCV000075818 RCV000075822 RCV000075823 RCV000075824 RCV000075825 RCV000075828 RCV000075829 RCV000075830 RCV000075832 RCV000075833 RCV000075834 RCV000075835 RCV000075836 RCV000075838 RCV000075839 RCV000075841 RCV000075843 RCV000075845 RCV000075847 RCV000075848 RCV000075849 RCV000075850 RCV000075851 RCV000075852 RCV000075853 RCV000075860 RCV000075861 RCV000075863 RCV000075864 RCV000075865 RCV000075866 RCV000075870 RCV000075871 RCV000075876 RCV000075877 RCV000075879 RCV000075881 RCV000075882 RCV000075883 RCV000075885 RCV000075886 RCV000075888 RCV000075889 RCV000075891 RCV000075892 RCV000075894 RCV000075895 RCV000075896 RCV003235034 RCV000075900 RCV000075901 RCV000075902 RCV000075904 RCV000075907 RCV000075908 RCV000075910 RCV000075912 RCV000075914 RCV000075923 RCV000075924 RCV000075925 RCV000075927 RCV000075928 RCV000075929 RCV000075932 RCV000075934 RCV000075936 RCV000075939 RCV000075941 RCV000075942 RCV000075944 RCV000075946 RCV000075952 RCV000075956 RCV000075957
Lynch syndrome 1	Pathogenic; Likely pathogenic	rs2125694105, rs1209098685, rs267607900, rs63749818, rs876658657, rs878853785, rs2083411159, rs2471502067, rs63751247, rs63751615, rs63750781, rs63751194, rs63750693, rs63750978, rs63751448, rs63751596, rs63750540, rs267607852, rs193922370, rs63751137, rs1253275403, rs1553653195, rs267607706, rs587779950, rs1559543768, rs267607884, rs1575641243, rs1575536219, rs2081714489, rs2082051355, rs2083404326, rs2084643841, rs2084645057, rs2085415475, rs2085472296, rs147542208, rs267607805, rs2085459433, rs267607816, rs63750580, rs267607713, rs63749795, rs63750855, rs267607832, rs267607837, rs63750193, rs587778938, rs63751081, rs63751460, rs63751657, rs63749863, rs63750150, rs587778950, rs63750610, rs63751202, rs63751662, rs63750206, rs587778967, rs63751275, rs63750603, rs63750561, rs63751022, rs63750971, rs267607903, rs267607901, rs1553666143, rs63749990, rs587778998, rs63750266, rs111052004, rs267607727, rs63750453, rs267607734, rs267607738, rs267607735, rs72481822, rs267607749, rs267607760, rs63750648, rs267607767, rs63750706, rs63751711, rs63750303, rs267607789, rs267607771, rs63751197, rs2082985381, rs2082990862	RCV001849899 RCV002463850 RCV000206724 RCV001804961 RCV000624023 RCV001804964 RCV003229525 RCV003229526 RCV001093699 RCV001093685 RCV000144599 RCV001093673 RCV001804746 RCV001805097 RCV000680199 RCV001093684 RCV001804748 RCV002284405 RCV001804749 RCV005861141 RCV000623903 RCV002284202 RCV000680195 RCV000680196 RCV000680200 RCV001310199 RCV000791335 RCV001093672 RCV001093653 RCV001093663 RCV001093670 RCV001093668 RCV001093669 RCV001093700 RCV001093693 RCV001093683 RCV001093689 RCV001093656 RCV001093692 RCV001804811 RCV000075155 RCV001093677 RCV001804812 RCV001804813 RCV005644505 RCV000075292 RCV001804814 RCV005861044 RCV001310198 RCV001804815 RCV001804816 RCV001804817 RCV001093676 RCV000075433 RCV000075437 RCV000680174 RCV001310195 RCV000075477 RCV001093679 RCV001093697 RCV001310200 RCV000144606 RCV000144602 RCV001804818 RCV000490564 RCV001804819 RCV000075601 RCV000490565 RCV000075619 RCV000075621 RCV000075622 RCV000075624 RCV000075627 RCV000075628 RCV000075629 RCV001804820 RCV000622257 RCV000075700 RCV005861045 RCV001804822 RCV000680175 RCV001804823 RCV000075787 RCV001093688 RCV001804824 RCV001310196 RCV000075855 RCV000075955 RCV001254938 RCV001310197
Lynch-like syndrome	Likely pathogenic; Pathogenic	rs267607786, rs63751247, rs63751615, rs63750781, rs267607765, rs63751596, rs63750540, rs63751221, rs1416171624, rs1553664702, rs72481822, rs587778978, rs1575552157, rs1553638767, rs267607816, rs63749795, rs267607853, rs63749868, rs63750035, rs267607884, rs63750206, rs63750663, rs63750499, rs267607745, rs63749959, rs267607760, rs63751653, rs63751711, rs267607789, rs267607798, rs63751194, rs63750993, rs2080886738, rs2081161426, rs2081930857, rs2082048690, rs63751101, rs2082052550, rs2082522248, rs2082968071, rs786201875, rs2083425688, rs587778906, rs1323236841, rs2085411304, rs2085466105, rs2085633095, rs2085653401, rs267607908, rs587779035, rs2083724808	RCV001249935 RCV001249999 RCV001249951 RCV001249927 RCV001249946 RCV001249931 RCV001249929 RCV001250008 RCV001250000 RCV001250018 RCV001249905 RCV001249940 RCV001250017 RCV001249948 RCV001249908 RCV001249944 RCV001250003 RCV001250014 RCV001250015 RCV001250002 RCV001249945 RCV001249947 RCV001249996 RCV001249909 RCV001249939 RCV001249949 RCV001249995 RCV001250009 RCV001249952 RCV001249934 RCV001249904 RCV001249943 RCV001250011 RCV001249950 RCV001249953 RCV001249942 RCV001250005 RCV001250007 RCV001249932 RCV001250004 RCV001250001 RCV001249938 RCV001249933 RCV001249998 RCV001249906 RCV001250016 RCV001249928 RCV001249903 RCV001250010 RCV001249997 RCV001249941 RCV001250006
Malignant tumor of urinary bladder	Pathogenic	rs267607717, rs267607795	RCV005890443 RCV005890450
Mismatch repair cancer syndrome 1	Likely pathogenic; Pathogenic	rs2125837110, rs2471123248, rs63750547, rs2085322101, rs2471501187, rs63751247, rs63751615, rs63750206, rs63750781, rs63750899, rs63750217, rs121912965, rs63751194, rs1060500699, rs63751596, rs63750540, rs397514684, rs1553647894, rs1386031101, rs550890395, rs587779027, rs267607709, rs63749795, rs63750098, rs63751657, rs63750035, rs267607871, rs63751892, rs63750610, rs587778967, rs63750864, rs63751275, rs267607720, rs63750561, rs267607903, rs267607735, rs267607768	RCV002484405 RCV005397393 RCV005397406 RCV004796730 RCV005397421 RCV000018609 RCV001267883 RCV001267885 RCV004795924 RCV001267884 RCV000763105 RCV000018639 RCV005025076 RCV005027503 RCV005398752 RCV000763102 RCV000035016 RCV000763101 RCV005036215 RCV002507374 RCV002497722 RCV001294059 RCV000763103 RCV005394310 RCV002483122 RCV000018637 RCV000763104 RCV005394313 RCV000477957 RCV005031555 RCV000764497 RCV000763106 RCV000763098 RCV005394315 RCV005394316 RCV000763099 RCV000763100 RCV002483124
MLH1-related disorder	Pathogenic; Likely pathogenic	rs876658247, rs2471178193, rs1553638767, rs267607815, rs63749795, rs267607843, rs63751657, rs63749868, rs63749986, rs63750726, rs63751275, rs267607894, rs63750792	RCV003907829 RCV003404693 RCV004726921 RCV003390766 RCV004748554 RCV003416490 RCV004748555 RCV003407452 RCV003390767 RCV004724792 RCV003915039 RCV004724793 RCV004748561
	Pathogenic; Likely pathogenic	rs63751199, rs2125837110, rs2471461031, rs2471123248, rs63750547, rs1434898623, rs2085322101, rs2471501187, rs63751247, rs63751615, rs63750781, rs63750217, rs63751194, rs1060500699, rs1064795441, rs1553642698, rs587778903, rs63751596, rs63750540, rs1553663834, rs397514684, rs1553647894, rs267607771, rs1386031101, rs550890395, rs1575448385, rs587779027, rs63750677, rs267607816, rs587778894, rs587778896, rs63749795, rs63750098, rs267607837, rs267607850, rs63751657, rs63749863, rs267607871, rs63751892, rs63750610, rs267607879, rs587778967, rs63750864, rs63751275, rs267607720, rs267607723, rs63750561, rs63751022, rs587778983, rs267607903, rs267607901, rs267607735, rs63750906, rs587779006, rs267607760, rs587779022, rs267607768, rs267607795, rs267607801, rs267607805	RCV001799562 RCV002484405 RCV002250116 RCV005397393 RCV005397406 RCV005356117 RCV004796730 RCV005397421 RCV002490387 RCV003137535 RCV004795924 RCV000763105 RCV005025076 RCV005027503 RCV005355956 RCV005356010 RCV005356011 RCV005398752 RCV000763102 RCV005357687 RCV003137557 RCV000763101 RCV005357985 RCV005036215 RCV002507374 RCV005359781 RCV002497722 RCV005364962 RCV005357454 RCV005357457 RCV005357458 RCV000763103 RCV005394310 RCV003448260 RCV005357461 RCV002483122 RCV005357462 RCV000763104 RCV005394313 RCV000477957 RCV005862970 RCV005031555 RCV000764497 RCV000763106 RCV000763098 RCV005357467 RCV005394315 RCV005357468 RCV002247469 RCV005394316 RCV005357469 RCV000763099 RCV005357470 RCV005357471 RCV005357474 RCV005357475 RCV000763100 RCV002483124 RCV002247470 RCV005357476 RCV005357478
Neoplasm	Likely pathogenic	rs63749792	RCV006273096
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs267607856	RCV005901231
See cases	Pathogenic	rs63751642, rs63750489	RCV004584345 RCV002287363
Squamous cell carcinoma of the head and neck	Likely pathogenic; Pathogenic	rs63750453, rs267607744, rs587779034	RCV005931946 RCV005900932 RCV005890448
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs267607718	RCV005890442

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign; Likely benign	rs9282784, rs77120160	RCV005916332 RCV005888762
Bile duct cancer	Benign	rs63750447	RCV001353661
Childhood neoplasm	Conflicting classifications of pathogenicity	rs63750760	RCV005621869
Cholangiocarcinoma	Benign	rs193922367	RCV005888760
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs63751615	RCV005897371
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	rs199935667, rs2125887070	RCV005887904 RCV005931899
Colorectal cancer, non-polyposis	Conflicting classifications of pathogenicity; Benign; Likely benign	rs63751225, rs63751049, rs63751467, rs63750365, rs63750449, rs63750702, rs140195825, rs63750650	RCV000148623 RCV000148617 RCV000148621 RCV000148618 RCV000148619 RCV000148624 RCV000148620 RCV000148616
Colorectal cancer, sporadic, susceptibility to	Benign	rs28930073	RCV000018628
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Uncertain significance	rs1575394679	RCV006254181
Hereditary cancer	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs56198082, rs63751467, rs63750760, rs267607901, rs370283452, rs63750796	RCV003492406 RCV004700374 RCV003492407 RCV004698822 RCV003492417 RCV003492419
Inherited ovarian cancer (without breast cancer)	Conflicting classifications of pathogenicity	rs730881742	RCV005237596
Lung adenocarcinoma	Uncertain significance	rs200676899, rs2470685068, rs1328558782	RCV003129609 RCV003129646 RCV003129680
Lynch syndrome 5	Uncertain significance	rs746705035	RCV005409881
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	rs199935667	RCV005887905
Malignant tumor of breast	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs2125823165, rs1457205659, rs369737664, rs587779008, rs762099920, rs878853788, rs781569222, rs536488280, rs755976424, rs755577490, rs776898290, rs4647258, rs1799977, rs35908749, rs63750876, rs35831931, rs2308317, rs786202209, rs1267759029, rs63751467, rs1800144, rs41295280, rs63749896, rs63750796	RCV001356875 RCV001355553 RCV001358331 RCV001355919 RCV001357243 RCV001358259 RCV001354107 RCV001357498 RCV001354848 RCV001354280 RCV001357773 RCV001355103 RCV001269359 RCV001356606 RCV001356052 RCV001269371 RCV001355297 RCV001358037 RCV001356888 RCV001356843 RCV001355849 RCV001358637 RCV001355282 RCV001357697
Malignant tumor of esophagus	Benign; Likely benign	rs193922367, rs63750365, rs4647220	RCV005888753 RCV005890439 RCV005890445
Ovarian cancer	Conflicting classifications of pathogenicity; Likely benign	rs141344760, rs587781505, rs776969475, rs532873141, rs200830026, rs559012648, rs4647220	RCV000148622 RCV003153416 RCV003153446 RCV003153588 RCV003153585 RCV003153679 RCV005890446
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign	rs199935667, rs4647205, rs193922367	RCV005887907 RCV005886635 RCV005888757
Primary peritoneal carcinoma	Uncertain significance	rs2125943681	RCV001693502
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs9282784, rs4647205, rs876659795, rs193922367, rs121909453	RCV005916333 RCV005886634 RCV005895046 RCV005888755 RCV005888767
Squamous cell carcinoma	Uncertain significance	rs2470631535	RCV003129598
Thymoma	Benign	rs193922367	RCV005888759
Uterine carcinosarcoma	Benign	rs4647205, rs193922367	RCV005886636 RCV005888758
Uterine corpus endometrial carcinoma	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs4647205, rs63750266, rs193922367, rs77120160, rs1200394799	RCV005886638 RCV005930186 RCV005888761 RCV005888765 RCV005907486

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