FAM111A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1286531	NM_001312909.2(FAM111A):c.-76-232A>G	FAM111A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197694	NM_001312909.2(FAM111A):c.-76-90C>T	FAM111A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2083186	NM_001312909.2(FAM111A):c.8G>C (p.Cys3Ser)	FAM111A (C3S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111148	NM_001312909.2(FAM111A):c.15G>A (p.Lys5=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1428044	NM_001312909.2(FAM111A):c.25C>T (p.Arg9Trp)	FAM111A (R9W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981137	NM_001312909.2(FAM111A):c.27G>A (p.Arg9=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021309	NM_001312909.2(FAM111A):c.63C>A (p.Ile21=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 779147	NM_001312909.2(FAM111A):c.63C>T (p.Ile21=)	FAM111A	Single nucleotide variant (synonymous variant)	FAM111A-related disorder +1 more	GBenign/Likely benign
Select item 2713751	NM_001312909.2(FAM111A):c.64G>A (p.Glu22Lys)	FAM111A (E22K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169017	NM_001312909.2(FAM111A):c.80C>T (p.Pro27Leu)	FAM111A (P27L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2080637	NM_001312909.2(FAM111A):c.81G>A (p.Pro27=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1224286	NM_001312909.2(FAM111A):c.81+68A>G	FAM111A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230550	NM_001312909.2(FAM111A):c.81+169A>G	FAM111A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208397	NM_001312909.2(FAM111A):c.81+269G>A	FAM111A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272462	NM_001312909.2(FAM111A):c.81+302del	FAM111A	Deletion (intron variant)	not provided	GBenign
Select item 1267115	NM_001312909.2(FAM111A):c.82-129A>T	FAM111A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2959354	NM_001312909.2(FAM111A):c.82-9del	FAM111A	Deletion (intron variant)	not provided	GLikely benign
Select item 1437742	NM_001312909.2(FAM111A):c.82-1G>C	FAM111A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 739615	NM_001312909.2(FAM111A):c.107G>A (p.Cys36Tyr)	FAM111A (C36Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3012165	NM_001312909.2(FAM111A):c.125G>T (p.Arg42Met)	FAM111A (R42M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745298	NM_001312909.2(FAM111A):c.126G>A (p.Arg42=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022625	NM_001312909.2(FAM111A):c.133T>C (p.Ser45Pro)	FAM111A (S45P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166325	NM_001312909.2(FAM111A):c.133T>A (p.Ser45Thr)	FAM111A (S45T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1952168	NM_001312909.2(FAM111A):c.166C>G (p.Gln56Glu)	FAM111A (Q56E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979463	NM_001312909.2(FAM111A):c.167A>G (p.Gln56Arg)	FAM111A (Q56R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698154	NM_001312909.2(FAM111A):c.169G>A (p.Ala57Thr)	FAM111A (A57T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983033	NM_001312909.2(FAM111A):c.192G>A (p.Lys64=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3091661	NM_001312909.2(FAM111A):c.202G>A (p.Glu68Lys)	FAM111A (E68K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2176855	NM_001312909.2(FAM111A):c.212C>A (p.Thr71Asn)	FAM111A (T71N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1941659	NM_001312909.2(FAM111A):c.215T>C (p.Met72Thr)	FAM111A (M72T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514175	NM_001312909.2(FAM111A):c.228del (p.Thr77fs)	FAM111A (T77fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 1354519	NM_001312909.2(FAM111A):c.234A>G (p.Ile78Met)	FAM111A (I78M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2706235	NM_001312909.2(FAM111A):c.235T>A (p.Tyr79Asn)	FAM111A (Y79N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3005620	NM_001312909.2(FAM111A):c.239T>C (p.Val80Ala)	FAM111A (V80A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805412	NM_001312909.2(FAM111A):c.244T>A (p.Leu82Met)	FAM111A (L82M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2491837	NM_001312909.2(FAM111A):c.256C>G (p.His86Asp)	FAM111A (H86D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2853486	NM_001312909.2(FAM111A):c.257A>G (p.His86Arg)	FAM111A (H86R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319298	NM_001312909.2(FAM111A):c.281_290del (p.Leu94fs)	FAM111A (L94fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 2032022	NM_001312909.2(FAM111A):c.282T>A (p.Leu94=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1465678	NM_001312909.2(FAM111A):c.286C>G (p.Leu96Val)	FAM111A (L96V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 707878	NM_001312909.2(FAM111A):c.291A>G (p.Thr97=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2128720	NM_001312909.2(FAM111A):c.293A>G (p.His98Arg)	FAM111A (H98R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747089	NM_001312909.2(FAM111A):c.309C>T (p.Ser103=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 376886	NM_001312909.2(FAM111A):c.310T>A (p.Leu104Ile)	FAM111A (L104I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2641808	NM_001312909.2(FAM111A):c.316A>T (p.Met106Leu)	FAM111A (M106L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050510	NM_001312909.2(FAM111A):c.316A>G (p.Met106Val)	FAM111A (M106V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2225392	NM_001312909.2(FAM111A):c.326A>G (p.Asn109Ser)	FAM111A (N109S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3035478	NM_001312909.2(FAM111A):c.345A>G (p.Arg115=)	FAM111A	Single nucleotide variant (synonymous variant)	FAM111A-related disorder	GLikely benign
Select item 3007866	NM_001312909.2(FAM111A):c.353_356del (p.Ile118fs)	FAM111A (I118fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 3068755	NM_001312909.2(FAM111A):c.352A>G (p.Ile118Val)	FAM111A (I118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2990089	NM_001312909.2(FAM111A):c.353T>G (p.Ile118Arg)	FAM111A (I118R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2519242	NM_001312909.2(FAM111A):c.353T>C (p.Ile118Thr)	FAM111A (I118T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2919377	NM_001312909.2(FAM111A):c.354A>G (p.Ile118Met)	FAM111A (I118M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708456	NM_001312909.2(FAM111A):c.364C>T (p.Gln122Ter)	FAM111A (Q122*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2421850	NM_001312909.2(FAM111A):c.369C>T (p.Gly123=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1937870	NM_001312909.2(FAM111A):c.377T>C (p.Met126Thr)	FAM111A (M126T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799192	NM_001312909.2(FAM111A):c.378G>T (p.Met126Ile)	FAM111A (M126I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713978	NM_001312909.2(FAM111A):c.386G>A (p.Arg129His)	FAM111A (R129H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2221663	NM_001312909.2(FAM111A):c.398G>A (p.Gly133Glu)	FAM111A (G133E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3005939	NM_001312909.2(FAM111A):c.401T>G (p.Ile134Ser)	FAM111A (I134S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712094	NM_001312909.2(FAM111A):c.427C>T (p.Pro143Ser)	FAM111A (P143S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3052901	NM_001312909.2(FAM111A):c.438T>C (p.Cys146=)	FAM111A	Single nucleotide variant (synonymous variant)	FAM111A-related disorder	GLikely benign
Select item 2632430	NM_001312909.2(FAM111A):c.484del (p.Ser162fs)	FAM111A (S162fs)	Deletion (frameshift variant)	FAM111A-related disorder	GUncertain significance
Select item 2764536	NM_001312909.2(FAM111A):c.482A>G (p.Lys161Arg)	FAM111A (K161R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 756175	NM_001312909.2(FAM111A):c.486_489del (p.Lys163fs)	FAM111A (K163fs)	Deletion (frameshift variant)	not provided +1 more	GLikely benign
Select item 2983797	NM_001312909.2(FAM111A):c.484A>G (p.Ser162Gly)	FAM111A (S162G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000414	NM_001312909.2(FAM111A):c.495G>A (p.Lys165=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796660	NM_001312909.2(FAM111A):c.507C>T (p.His169=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2991059	NM_001312909.2(FAM111A):c.519G>A (p.Arg173=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3091662	NM_001312909.2(FAM111A):c.520C>A (p.Gln174Lys)	FAM111A (Q174K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1957294	NM_001312909.2(FAM111A):c.526A>G (p.Lys176Glu)	FAM111A (K176E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967065	NM_001312909.2(FAM111A):c.529G>A (p.Ala177Thr)	FAM111A (A177T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739932	NM_001312909.2(FAM111A):c.531A>G (p.Ala177=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970016	NM_001312909.2(FAM111A):c.532T>C (p.Ser178Pro)	FAM111A (S178P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031326	NM_001312909.2(FAM111A):c.533C>T (p.Ser178Leu)	FAM111A (S178L)	Single nucleotide variant (missense variant)	Osteocraniostenosis	GUncertain significance
Select item 1904983	NM_001312909.2(FAM111A):c.534G>T (p.Ser178=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1897671	NM_001312909.2(FAM111A):c.539A>C (p.Glu180Ala)	FAM111A (E180A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1337714	NM_001312909.2(FAM111A):c.563C>G (p.Ala188Gly)	FAM111A (A188G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1993650	NM_001312909.2(FAM111A):c.575G>T (p.Gly192Val)	FAM111A (G192V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990406	NM_001312909.2(FAM111A):c.578A>G (p.Lys193Arg)	FAM111A (K193R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 707879	NM_001312909.2(FAM111A):c.580T>A (p.Cys194Ser)	FAM111A (C194S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1714200	NM_001312909.2(FAM111A):c.602G>A (p.Cys201Tyr)	FAM111A (C201Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1923247	NM_001312909.2(FAM111A):c.603T>A (p.Cys201Ter)	FAM111A (C201*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2788505	NM_001312909.2(FAM111A):c.609G>T (p.Lys203Asn)	FAM111A (K203N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976528	NM_001312909.2(FAM111A):c.624G>A (p.Gly208=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166496	NM_001312909.2(FAM111A):c.625C>T (p.Arg209Cys)	FAM111A (R209C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2354628	NM_001312909.2(FAM111A):c.626G>T (p.Arg209Leu)	FAM111A (R209L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1923974	NM_001312909.2(FAM111A):c.626G>A (p.Arg209His)	FAM111A (R209H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1803406	NM_001312909.2(FAM111A):c.634T>C (p.Cys212Arg)	FAM111A (C212R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420700	NM_001312909.2(FAM111A):c.636T>C (p.Cys212=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1275283	NM_001312909.2(FAM111A):c.672A>G (p.Ala224=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2717291	NM_001312909.2(FAM111A):c.677G>T (p.Cys226Phe)	FAM111A (C226F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 735455	NM_001312909.2(FAM111A):c.678C>T (p.Cys226=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722627	NM_001312909.2(FAM111A):c.681G>A (p.Lys227=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2073128	NM_001312909.2(FAM111A):c.690A>T (p.Arg230Ser)	FAM111A (R230S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 711046	NM_001312909.2(FAM111A):c.738T>C (p.Asn246=)	FAM111A	Single nucleotide variant (synonymous variant)	FAM111A-related disorder +1 more	GBenign/Likely benign
Select item 3277086	NM_001312909.2(FAM111A):c.743C>A (p.Thr248Asn)	FAM111A (T248N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1525095	NM_001312909.2(FAM111A):c.761A>G (p.Gln254Arg)	FAM111A (Q254R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1988035	NM_001312909.2(FAM111A):c.771T>C (p.Asp257=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770974	NM_001312909.2(FAM111A):c.782_791dup (p.Phe264fs)	FAM111A (F264fs)	Duplication (frameshift variant)	Autosomal dominant Kenny-Caffey syndrome +2 more	GBenign/Likely benign

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