ClinVar for MedGen (Select 280689) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244604	NC_000011.9:g.(?_108009605)_(108017106_?)del	ACAT1	Deletion	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 3244603	NC_000011.9:g.(?_108004527)_(108005063_?)del	ACAT1	Deletion	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 3244602	NC_000011.9:g.(?_108002614)_(108009788_?)del	ACAT1	Deletion	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 3244601	NC_000011.9:g.(?_108002614)_(108005989_?)del	ACAT1	Deletion	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 3244600	NC_000011.9:g.(?_107992334)_(108010962_?)del	ACAT1	Deletion	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 3244599	NC_000011.9:g.(?_108017977)_(108018117_?)del	ACAT1	Deletion	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 3240956	NM_000019.4(ACAT1):c.363_364insT (p.Ile122fs)	ACAT1 (I122fs +2 more)	Insertion (frameshift variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 3240954	NM_000019.4(ACAT1):c.238+1G>A	ACAT1	Single nucleotide variant (splice donor variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 3240951	NM_000019.4(ACAT1):c.731-1G>A	ACAT1	Single nucleotide variant (splice acceptor variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 3238733	NM_000019.4(ACAT1):c.1163G>C (p.Gly388Ala)	ACAT1 (G283A +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 3235011	NM_000019.4(ACAT1):c.495_496del (p.Gly166fs)	ACAT1 (G166fs +3 more)	Microsatellite (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 3064169	NM_000019.4(ACAT1):c.410C>T (p.Ser137Phe)	ACAT1 (S137F +2 more)	Single nucleotide variant (missense variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 3020975	NM_000019.4(ACAT1):c.72+17C>T	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 3018847	NM_000019.4(ACAT1):c.940+15G>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 3018067	NM_000019.4(ACAT1):c.39C>A (p.Arg13=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 3015588	NM_000019.4(ACAT1):c.455_475del (p.Gly152_Asn158del)	ACAT1	Deletion (inframe_deletion +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 3010997	NM_000019.4(ACAT1):c.731-20T>C	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 3010981	NM_000019.4(ACAT1):c.936A>T (p.Ile312=)	ACAT1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 3009404	NM_000019.4(ACAT1):c.213A>C (p.Ala71=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 3008521	NM_000019.4(ACAT1):c.549G>A (p.Gly183=)	ACAT1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 3008003	NM_000019.4(ACAT1):c.940+12C>G	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 3007460	NM_000019.4(ACAT1):c.436-14G>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 3004951	NM_000019.4(ACAT1):c.239-10_239-8del	ACAT1	Deletion (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GBenign
Select item 3002171	NM_000019.4(ACAT1):c.1163+14A>G	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 3001688	NM_000019.4(ACAT1):c.1023A>T (p.Gly341=)	ACAT1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 3001092	NM_000019.4(ACAT1):c.200T>G (p.Leu67Arg)	ACAT1 (L67R)	Single nucleotide variant (missense variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 3000417	NM_000019.4(ACAT1):c.436-15G>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 2998479	NM_000019.4(ACAT1):c.827-16T>C	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2997183	NM_000019.4(ACAT1):c.447G>A (p.Val149=)	ACAT1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2997122	NM_000019.4(ACAT1):c.93G>A (p.Arg31=)	ACAT1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2996434	NM_000019.4(ACAT1):c.1197T>C (p.Thr399=)	ACAT1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2991984	NM_000019.4(ACAT1):c.33C>T (p.Gly11=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2981653	NM_000019.4(ACAT1):c.394G>C (p.Ala132Pro)	ACAT1 (A42P +2 more)	Single nucleotide variant (missense variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 2980315	NM_000019.4(ACAT1):c.335-16C>T	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2978962	NM_000019.4(ACAT1):c.238+20T>C	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2978715	NM_000019.4(ACAT1):c.334+2T>A	ACAT1	Single nucleotide variant (splice donor variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 2977444	NM_000019.4(ACAT1):c.1215A>C (p.Gly405=)	ACAT1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2976945	NM_000019.4(ACAT1):c.483T>G (p.Tyr161Ter)	ACAT1 (Y161* +3 more)	Single nucleotide variant (nonsense +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 2976085	NM_000019.4(ACAT1):c.410_411insGGGCCTC (p.Gln138fs)	ACAT1 (Q138fs +2 more)	Insertion (frameshift variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 2973363	NM_000019.4(ACAT1):c.826+19A>C	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2968401	NM_000019.4(ACAT1):c.510T>C (p.Tyr170=)	ACAT1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2963568	NM_000019.4(ACAT1):c.827-18C>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2957781	NM_000019.4(ACAT1):c.1164-17T>C	ACAT1 (C390R)	Single nucleotide variant (missense variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2955781	NM_000019.4(ACAT1):c.1159A>G (p.Ile387Val)	ACAT1 (I282V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2920548	NM_000019.4(ACAT1):c.1164-8_1164-4dup	ACAT1 (F394fs)	Duplication (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2920276	NM_000019.4(ACAT1):c.335-12T>C	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2920070	NM_000019.4(ACAT1):c.827-16_827-15del	ACAT1	Deletion (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2918632	NM_000019.4(ACAT1):c.941-16C>T	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2916887	NM_000019.4(ACAT1):c.435+13G>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2916513	NM_000019.4(ACAT1):c.120+17G>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2916465	NM_000019.4(ACAT1):c.72+19C>T	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2915596	NM_000019.4(ACAT1):c.1163+20A>G	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2915536	NM_000019.4(ACAT1):c.941-19C>T	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2914731	NM_000019.4(ACAT1):c.1005+20dup	ACAT1	Duplication (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2914623	NM_000019.4(ACAT1):c.72+10G>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2913972	NM_000019.4(ACAT1):c.334+16T>C	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2912736	NM_000019.4(ACAT1):c.941-15C>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2911628	NM_000019.4(ACAT1):c.121-19C>T	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2908124	NM_000019.4(ACAT1):c.321A>T (p.Ala107=)	ACAT1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2906649	NM_000019.4(ACAT1):c.826+15A>G	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2906490	NM_000019.4(ACAT1):c.1207A>T (p.Lys403Ter)	ACAT1 (K304* +4 more)	Single nucleotide variant (nonsense +1 more)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 2905898	NM_000019.4(ACAT1):c.940+13G>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2903977	NM_000019.4(ACAT1):c.121-12G>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2902928	NM_000019.4(ACAT1):c.1116A>G (p.Gln372=)	ACAT1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2898794	NM_000019.4(ACAT1):c.941-18_941-17insG	ACAT1	Insertion (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2898052	NM_000019.4(ACAT1):c.335-20G>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2897344	NM_000019.4(ACAT1):c.1006-4T>G	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2895443	NM_000019.4(ACAT1):c.1272T>A (p.Ile424=)	ACAT1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2890413	NM_000019.4(ACAT1):c.1163+19T>G	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2888789	NM_000019.4(ACAT1):c.941-18C>T	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2887599	NM_000019.4(ACAT1):c.239-11_239-8del	ACAT1	Deletion (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GBenign
Select item 2887559	NM_000019.4(ACAT1):c.940+12C>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2883141	NM_000019.4(ACAT1):c.941-17C>G	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2883049	NM_000019.4(ACAT1):c.163T>A (p.Phe55Ile)	ACAT1 (F55I)	Single nucleotide variant (missense variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 2881805	NM_000019.4(ACAT1):c.238+20T>G	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2881214	NM_000019.4(ACAT1):c.334+18_334+19del	ACAT1	Deletion (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2880787	NM_000019.4(ACAT1):c.238+13T>C	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2878755	NM_000019.4(ACAT1):c.531T>C (p.Asp177=)	ACAT1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2874868	NM_000019.4(ACAT1):c.435+20C>T	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2873568	NM_000019.4(ACAT1):c.126G>A (p.Val42=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2872601	NM_000019.4(ACAT1):c.1053A>G (p.Glu351=)	ACAT1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2867838	NM_000019.4(ACAT1):c.238+11A>G	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2867418	NM_000019.4(ACAT1):c.1A>C (p.Met1Leu)	ACAT1 (M1L)	Single nucleotide variant (missense variant +4 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 2866644	NM_000019.4(ACAT1):c.619del (p.Ala207fs)	ACAT1 (A102fs +3 more)	Deletion (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 2863621	NM_000019.4(ACAT1):c.18A>G (p.Ala6=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2860860	NM_000019.4(ACAT1):c.474T>C (p.Asn158=)	ACAT1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2860349	NM_000019.4(ACAT1):c.326T>G (p.Leu109Trp)	ACAT1 (L19W +1 more)	Single nucleotide variant (missense variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 2860063	NM_000019.4(ACAT1):c.826+20G>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2860047	NM_000019.4(ACAT1):c.912C>A (p.Leu304=)	ACAT1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2855920	NM_000019.4(ACAT1):c.731-10_731-8del	ACAT1	Deletion (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2852431	NM_000019.4(ACAT1):c.1176C>G (p.Ala392=)	ACAT1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2849966	NM_000019.4(ACAT1):c.1260T>C (p.Ser420=)	ACAT1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2848139	NM_000019.4(ACAT1):c.10C>T (p.Leu4=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2847551	NM_000019.4(ACAT1):c.384A>C (p.Ser128=)	ACAT1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2846638	NM_000019.4(ACAT1):c.1078G>A (p.Val360Ile)	ACAT1 (V270I +3 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 2845011	NM_000019.4(ACAT1):c.73-9A>G	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2844308	NM_000019.4(ACAT1):c.291A>G (p.Gly97=)	ACAT1 (E5G)	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2843573	NM_000019.4(ACAT1):c.189A>C (p.Pro63=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2840864	NM_000019.4(ACAT1):c.609G>A (p.Lys203=)	ACAT1	Single nucleotide variant (synonymous variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2838144	NM_000019.4(ACAT1):c.335-19T>C	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign

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