ClinVar for MedGen (Select 344419) - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022682	NM_032601.4(MCEE):c.40+17G>A	MCEE	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 3017646	NM_032601.4(MCEE):c.40+8C>G	MCEE	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 3006372	NM_032601.4(MCEE):c.303A>T (p.Pro101=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 3003299	NM_032601.4(MCEE):c.210G>A (p.Gly70=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 3002334	NM_032601.4(MCEE):c.27C>T (p.Ala9=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2999182	NM_032601.4(MCEE):c.517C>T (p.Leu173=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2996466	NM_032601.4(MCEE):c.378+15T>G	MCEE	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2992461	NM_032601.4(MCEE):c.49dup (p.Ser17fs)	MCEE (S17fs)	Duplication (frameshift variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2992369	NM_032601.4(MCEE):c.78A>G (p.Val26=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2978589	NM_032601.4(MCEE):c.501T>C (p.Gly167=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2971972	NM_032601.4(MCEE):c.378+20G>T	MCEE	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2968169	NM_032601.4(MCEE):c.36C>T (p.Ala12=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2963707	NM_032601.4(MCEE):c.474G>T (p.Val158=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2907658	NM_032601.4(MCEE):c.462T>C (p.His154=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2900901	NM_032601.4(MCEE):c.84T>G (p.Ala28=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2884911	NM_032601.4(MCEE):c.378+11_378+19del	MCEE	Microsatellite (splice donor variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2876491	NM_032601.4(MCEE):c.41-20A>G	MCEE	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2872212	NM_032601.4(MCEE):c.24A>C (p.Ala8=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2860402	NM_032601.4(MCEE):c.282C>T (p.Thr94=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2857869	NM_032601.4(MCEE):c.459A>C (p.Ala153=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2845096	NM_032601.4(MCEE):c.159A>C (p.Ile53=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2844945	NM_032601.4(MCEE):c.133C>T (p.Leu45=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2836492	NM_032601.4(MCEE):c.379-5T>G	MCEE	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2835392	NM_032601.4(MCEE):c.483C>G (p.Leu161=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2830963	NM_032601.4(MCEE):c.321A>G (p.Pro107=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2830026	NM_032601.4(MCEE):c.19dup (p.Ala7fs)	MCEE (A7fs)	Duplication (frameshift variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2825428	NM_032601.4(MCEE):c.27C>A (p.Ala9=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2806261	NM_032601.4(MCEE):c.205C>T (p.Leu69=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2804343	NM_032601.4(MCEE):c.474G>A (p.Val158=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2799629	NM_032601.4(MCEE):c.40+13C>A	MCEE	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2788277	NM_032601.4(MCEE):c.379-19T>C	MCEE	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2785616	NM_032601.4(MCEE):c.66C>G (p.Pro22=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2771364	NM_032601.4(MCEE):c.40+1G>T	MCEE	Single nucleotide variant (splice donor variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely pathogenic
Select item 2766930	NM_032601.4(MCEE):c.93A>C (p.Thr31=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2754976	NM_032601.4(MCEE):c.378+19T>C	MCEE	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2753552	NM_032601.4(MCEE):c.393T>C (p.Asn131=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2735271	NM_032601.4(MCEE):c.375_378+4del	MCEE	Deletion (splice donor variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely pathogenic
Select item 2717388	NM_032601.4(MCEE):c.507C>G (p.Val169=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2698328	NM_032601.4(MCEE):c.291A>G (p.Glu97=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2689408	NM_032601.4(MCEE):c.275G>A (p.Gly92Glu)	MCEE (G92E)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 2443797	NM_032601.4(MCEE):c.379-644A>G	MCEE	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely pathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2179222	NM_032601.4(MCEE):c.269A>G (p.Asn90Ser)	MCEE (N90S)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 2178090	NM_032601.4(MCEE):c.369C>T (p.Ile123=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2101892	NM_032601.4(MCEE):c.400G>A (p.Val134Met)	MCEE (V134M)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 2081936	NM_032601.4(MCEE):c.38T>C (p.Val13Ala)	MCEE (V13A)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 2054034	NM_032601.4(MCEE):c.228G>A (p.Ala76=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2052157	NM_032601.4(MCEE):c.30G>A (p.Ala10=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 2029477	NM_032601.4(MCEE):c.18G>A (p.Lys6=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 1911422	NM_032601.4(MCEE):c.354A>T (p.Gly118=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 1721139	NM_032601.4(MCEE):c.425T>A (p.Ile142Asn)	MCEE (I142N)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 1593039	NM_032601.4(MCEE):c.117A>G (p.Thr39=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 1513623	NM_032601.4(MCEE):c.466A>G (p.Lys156Glu)	MCEE (K156E)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 1444714	NM_032601.4(MCEE):c.140G>T (p.Arg47Leu)	MCEE (R47L)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency +1 more	GUncertain significance
Select item 1412587	NC_000002.11:g.(?_71337100)_(71357349_?)dup	MCEE	Duplication	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 1385948	NM_032601.4(MCEE):c.166C>T (p.Pro56Ser)	MCEE (P56S)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 1368012	NM_032601.4(MCEE):c.140G>A (p.Arg47Gln)	MCEE (R47Q)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 1152360	NM_032601.4(MCEE):c.304T>C (p.Leu102=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 1115828	NM_032601.4(MCEE):c.375C>T (p.Ile125=)	MCEE	Single nucleotide variant (synonymous variant)	MCEE-related disorder +1 more	GLikely benign
Select item 1082651	NM_032601.4(MCEE):c.381G>C (p.Val127=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 1064290	NM_032601.4(MCEE):c.345C>A (p.Asn115Lys)	MCEE (N115K)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency +1 more	GUncertain significance
Select item 1045912	NM_032601.4(MCEE):c.376G>A (p.Glu126Lys)	MCEE (E126K)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 1025357	NM_032601.4(MCEE):c.41-9A>G	MCEE	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 1007045	NM_032601.4(MCEE):c.226_227delinsAT (p.Ala76Met)	MCEE (A76M)	Indel (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 1003508	NM_032601.4(MCEE):c.3G>A (p.Met1Ile)	MCEE (M1I)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 898376	NM_032601.4(MCEE):c.41-13T>A	MCEE	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GBenign/Likely benign
Select item 898375	NM_032601.4(MCEE):c.66C>T (p.Pro22=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GConflicting classifications of pathogenicity
Select item 897202	NM_032601.4(MCEE):c.164T>C (p.Val55Ala)	MCEE (V55A)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GConflicting classifications of pathogenicity
Select item 897201	NM_032601.4(MCEE):c.352G>C (p.Gly118Arg)	MCEE (G118R)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 896731	NM_032601.4(MCEE):c.440A>G (p.Glu147Gly)	MCEE (E147G)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 896730	NM_032601.4(MCEE):c.*64A>C	MCEE	Single nucleotide variant (3 prime UTR variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 833393	NC_000002.12:g.(?_71109950)_(71130239_?)del	MCEE	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 792271	NM_032601.4(MCEE):c.180G>A (p.Lys60=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 757818	NM_032601.4(MCEE):c.327A>T (p.Ala109=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GLikely benign
Select item 729893	NM_032601.4(MCEE):c.120T>C (p.Gly40=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GBenign/Likely benign
Select item 655143	NM_032601.4(MCEE):c.10G>T (p.Val4Leu)	MCEE (V4L)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 649586	NM_032601.4(MCEE):c.311G>A (p.Arg104His)	MCEE (R104H)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 643880	NM_032601.4(MCEE):c.235C>G (p.Leu79Val)	MCEE (L79V)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency +1 more	GUncertain significance
Select item 336940	NM_032601.4(MCEE):c.136G>A (p.Gly46Ser)	MCEE (G46S)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 336939	NM_032601.4(MCEE):c.271C>A (p.Leu91Met)	MCEE (L91M)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 336938	NM_032601.4(MCEE):c.312T>G (p.Arg104=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 336937	NM_032601.4(MCEE):c.368T>A (p.Ile123Asn)	MCEE (I123N)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 336936	NM_032601.4(MCEE):c.428G>A (p.Arg143His)	MCEE (R143H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 336935	NM_032601.4(MCEE):c.520G>C (p.Glu174Gln)	MCEE (E174Q)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency +1 more	GUncertain significance
Select item 336933	NM_032601.4(MCEE):c.*262G>A	MCEE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 203812	NM_032601.4(MCEE):c.178A>C (p.Lys60Gln)	MCEE (K60Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 203810	NM_032601.4(MCEE):c.427C>T (p.Arg143Cys)	MCEE (R143C)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 195391	NM_032601.4(MCEE):c.102C>G (p.Pro34=)	MCEE	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 138183	NM_032601.4(MCEE):c.311G>T (p.Arg104Leu)	MCEE (R104L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 138182	NM_032601.4(MCEE):c.227C>T (p.Ala76Val)	MCEE (A76V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2343	NM_032601.4(MCEE):c.139C>T (p.Arg47Ter)	MCEE (R47*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic

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Items: 91