ClinVar for MedGen (Select 344422) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3779875	NM_172250.3(MMAA):c.473C>T (p.Thr158Ile)	MMAA (T158I)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3720592	NM_172250.3(MMAA):c.349G>T (p.Glu117Ter)	MMAA (E117*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 3708998	NM_172250.3(MMAA):c.1020T>C (p.Asp340=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 3707704	NM_172250.3(MMAA):c.803G>T (p.Gly268Val)	MMAA (G268V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3705086	NM_172250.3(MMAA):c.660G>A (p.Val220=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 3687508	NM_172250.3(MMAA):c.210C>T (p.Thr70=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 3680429	NM_172250.3(MMAA):c.820-18T>C	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 3675230	NM_172250.3(MMAA):c.51A>G (p.Leu17=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 3646186	NM_172250.3(MMAA):c.819+24del	MMAA	Deletion (intron variant)	Methylmalonic aciduria, cblA type	GBenign
Select item 3624935	NM_172250.3(MMAA):c.562+17C>A	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 3606677	NM_172250.3(MMAA):c.562+18T>G	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 3590180	NM_172250.3(MMAA):c.1241T>C (p.Phe414Ser)	MMAA (F414S)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590179	NM_172250.3(MMAA):c.1220C>T (p.Ala407Val)	MMAA (A407V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590178	NM_172250.3(MMAA):c.1130del (p.Glu377fs)	MMAA (E377fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 3590177	NM_172250.3(MMAA):c.1108C>T (p.Leu370Phe)	MMAA (L370F)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590176	NM_172250.3(MMAA):c.1067del (p.Thr356fs)	MMAA (T356fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 3590175	NM_172250.3(MMAA):c.1061A>G (p.Glu354Gly)	MMAA (E354G)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590173	NM_172250.3(MMAA):c.1049T>A (p.Leu350His)	MMAA (L350H)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590172	NM_172250.3(MMAA):c.1034T>C (p.Phe345Ser)	MMAA (F345S)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590171	NM_172250.3(MMAA):c.988del (p.Arg330fs)	MMAA (R330fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 3590170	NM_172250.3(MMAA):c.970-3T>C	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590169	NM_172250.3(MMAA):c.904A>G (p.Ile302Val)	MMAA (I302V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590168	NM_172250.3(MMAA):c.877G>A (p.Gly293Arg)	MMAA (G293R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590167	NM_172250.3(MMAA):c.856G>C (p.Val286Leu)	MMAA (V286L)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590166	NM_172250.3(MMAA):c.836_837del (p.Ile279fs)	MMAA (I279fs)	Microsatellite (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 3590165	NM_172250.3(MMAA):c.820G>C (p.Gly274Arg)	MMAA (G274R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590164	NM_172250.3(MMAA):c.634C>G (p.Pro212Ala)	MMAA (P212A)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590163	NM_172250.3(MMAA):c.616G>A (p.Ala206Thr)	MMAA (A206T)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590162	NM_172250.3(MMAA):c.600A>T (p.Leu200Phe)	MMAA (L200F)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590161	NM_172250.3(MMAA):c.551G>A (p.Cys184Tyr)	MMAA (C184Y)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590159	NM_172250.3(MMAA):c.488T>G (p.Phe163Cys)	MMAA (F163C)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590158	NM_172250.3(MMAA):c.440G>A (p.Gly147Glu)	MMAA (G147E)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 3590157	NM_172250.3(MMAA):c.439+2T>C	MMAA	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 3590156	NM_172250.3(MMAA):c.439+2T>A	MMAA	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 3590155	NM_172250.3(MMAA):c.320T>C (p.Leu107Pro)	MMAA (L107P)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590154	NM_172250.3(MMAA):c.281T>C (p.Ile94Thr)	MMAA (I94T)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590153	NM_172250.3(MMAA):c.265C>G (p.Leu89Val)	MMAA (L89V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590151	NM_172250.3(MMAA):c.44_45delinsAA (p.Gly15Glu)	MMAA (G15E)	Indel (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590150	NM_172250.3(MMAA):c.32A>G (p.His11Arg)	MMAA (H11R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3590149	NM_172250.3(MMAA):c.-5C>G	MMAA	Single nucleotide variant (5 prime UTR variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 3295235	NM_172250.3(MMAA):c.911C>T (p.Ala304Val)	MMAA (A304V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +1 more	GUncertain significance
Select item 3242584	NM_172250.3(MMAA):c.772G>A (p.Asp258Asn)	MMAA (D258N)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +1 more	GLikely pathogenic
Select item 3241952	NM_172250.3(MMAA):c.1036C>T (p.Gln346Ter)	MMAA (Q346*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 3241951	NM_172250.3(MMAA):c.780del (p.Phe260fs)	MMAA (F260fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 3215137	NM_172250.3(MMAA):c.946C>T (p.Arg316Cys)	MMAA (R316C)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +1 more	GUncertain significance
Select item 3065973	NM_172250.3(MMAA):c.821del	MMAA	Deletion (splice acceptor variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 3019212	NM_172250.3(MMAA):c.156A>G (p.Thr52=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 3011431	NM_172250.3(MMAA):c.405A>G (p.Gln135=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 3009184	NM_172250.3(MMAA):c.951A>G (p.Ser317=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 3007557	NM_172250.3(MMAA):c.957C>T (p.Val319=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 3006457	NM_172250.3(MMAA):c.1116G>A (p.Gln372=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2992259	NM_172250.3(MMAA):c.555T>C (p.Thr185=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2989262	NM_172250.3(MMAA):c.733+12A>G	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2986587	NM_172250.3(MMAA):c.819+19dup	MMAA	Duplication (intron variant)	Methylmalonic aciduria, cblA type	GBenign
Select item 2986397	NM_172250.3(MMAA):c.666G>A (p.Arg222=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2984337	NM_172250.3(MMAA):c.439+14G>T	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2983453	NM_172250.3(MMAA):c.6C>T (p.Pro2=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2980722	NM_172250.3(MMAA):c.1086A>G (p.Gln362=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2974155	NM_172250.3(MMAA):c.734-15G>A	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2970756	NM_172250.3(MMAA):c.375A>G (p.Lys125=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2965489	NM_172250.3(MMAA):c.390C>T (p.His130=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2962377	NM_172250.3(MMAA):c.440-9C>A	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2958330	NM_172250.3(MMAA):c.733+16T>G	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2920076	NM_172250.3(MMAA):c.195A>G (p.Leu65=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2917483	NM_172250.3(MMAA):c.186G>A (p.Lys62=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2915144	NM_172250.3(MMAA):c.519A>G (p.Lys173=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2913082	NM_172250.3(MMAA):c.969+15A>C	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2906973	NM_172250.3(MMAA):c.970-3dup	MMAA	Duplication (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2906555	NM_172250.3(MMAA):c.1087C>T (p.Gln363Ter)	MMAA (Q363*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 2901845	NM_172250.3(MMAA):c.585C>A (p.Thr195=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2901448	NM_172250.3(MMAA):c.969+18C>T	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2897320	NM_172250.3(MMAA):c.439+12T>G	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2889206	NM_172250.3(MMAA):c.820-13C>G	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2888874	NM_172250.3(MMAA):c.1037A>G (p.Gln346Arg)	MMAA (Q346R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 2884746	NM_172250.3(MMAA):c.969+15A>G	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2874898	NM_172250.3(MMAA):c.549T>C (p.Ser183=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2873614	NM_172250.3(MMAA):c.563-17G>A	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2866984	NM_172250.3(MMAA):c.144A>G (p.Gly48=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2859884	NM_172250.3(MMAA):c.734-13T>C	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2859780	NM_172250.3(MMAA):c.851del (p.Asp284fs)	MMAA (D284fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 2859417	NM_172250.3(MMAA):c.562+2T>C	MMAA	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 2849547	NM_172250.3(MMAA):c.325G>T (p.Glu109Ter)	MMAA (E109*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 2843794	NM_172250.3(MMAA):c.362T>C (p.Val121Ala)	MMAA (V121A)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 2843528	NM_172250.3(MMAA):c.819+13del	MMAA	Deletion (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2838801	NM_172250.3(MMAA):c.855G>A (p.Leu285=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2832159	NM_172250.3(MMAA):c.357C>T (p.Ala119=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2828147	NM_172250.3(MMAA):c.734-20G>A	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2828093	NM_172250.3(MMAA):c.386dup (p.Tyr129Ter)	MMAA (Y129*)	Duplication (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 2822455	NM_172250.3(MMAA):c.1156C>A (p.Arg386=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2819262	NM_172250.3(MMAA):c.563-4T>A	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2816032	NM_172250.3(MMAA):c.264A>G (p.Lys88=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2806040	NM_172250.3(MMAA):c.711C>T (p.Asp237=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2801686	NM_172250.3(MMAA):c.439+16G>C	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2798686	NM_172250.3(MMAA):c.439+14del	MMAA	Deletion (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2794713	NM_172250.3(MMAA):c.1197G>A (p.Gly399=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2793779	NM_172250.3(MMAA):c.440-19A>C	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2784560	NM_172250.3(MMAA):c.969+20G>T	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2784202	NM_172250.3(MMAA):c.54A>G (p.Arg18=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2780658	NM_172250.3(MMAA):c.819+11T>G	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2780046	NM_172250.3(MMAA):c.1114C>T (p.Gln372Ter)	MMAA (Q372*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic

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