ClinVar for MedGen (Select 344422) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2769828	NM_172250.3(MMAA):c.1002G>C (p.Gly334=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2764322	NM_172250.3(MMAA):c.1124del (p.Val375fs)	MMAA (V375fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 2761678	NM_172250.3(MMAA):c.1161A>G (p.Glu387=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2759861	NM_172250.3(MMAA):c.599T>C (p.Leu200Ser)	MMAA (L200S)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 2759738	NM_172250.3(MMAA):c.820-15T>G	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2750670	NM_172250.3(MMAA):c.861T>C (p.Ala287=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2748122	NM_172250.3(MMAA):c.384T>C (p.Leu128=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2734674	NM_172250.3(MMAA):c.388del (p.His130fs)	MMAA (H130fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 2722410	NM_172250.3(MMAA):c.303A>G (p.Leu101=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2718187	NM_172250.3(MMAA):c.201A>G (p.Val67=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2717873	NM_172250.3(MMAA):c.999G>A (p.Glu333=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2708207	NM_172250.3(MMAA):c.733+9G>A	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2706447	NM_172250.3(MMAA):c.198T>C (p.Cys66=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2700678	NM_172250.3(MMAA):c.333T>A (p.Thr111=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2697930	NM_172250.3(MMAA):c.96T>A (p.Thr32=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2693694	NM_172250.3(MMAA):c.783T>G (p.Val261=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2692621	NM_172250.3(MMAA):c.1145del (p.His382fs)	MMAA (H382fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 2676611	NM_172250.3(MMAA):c.601del (p.Ser201fs)	MMAA (S201fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 2676610	NM_172250.3(MMAA):c.302T>G (p.Leu101Ter)	MMAA (L101*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 2676609	NM_172250.3(MMAA):c.405del (p.Gln135fs)	MMAA (Q135fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 2676608	NM_172250.3(MMAA):c.1042del (p.Asp347_Leu348insTer)	MMAA	Deletion (nonsense)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 2676607	NM_172250.3(MMAA):c.260_267dup (p.Tyr90fs)	MMAA (Y90fs)	Duplication (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 2676606	NM_172250.3(MMAA):c.963_969+4del	MMAA	Deletion (splice donor variant)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 2676605	NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)	MMAA (W366*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 2676604	NM_172250.3(MMAA):c.50T>A (p.Leu17Ter)	MMAA (L17*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 2676603	NM_172250.3(MMAA):c.255del (p.Phe85fs)	MMAA (F85fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 2676600	NM_172250.3(MMAA):c.54del (p.Ala19fs)	MMAA (A19fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 2676599	NM_172250.3(MMAA):c.733+1G>T	MMAA	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 2676598	NM_172250.3(MMAA):c.708dup (p.Asp237Ter)	MMAA (D237*)	Duplication (nonsense)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 2676597	NM_172250.3(MMAA):c.746_762dup (p.Asp255fs)	MMAA (D255fs)	Duplication (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 2676596	NM_172250.3(MMAA):c.112del (p.Ile38fs)	MMAA (I38fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 2676594	NM_172250.3(MMAA):c.936dup (p.Leu313fs)	MMAA (L313fs)	Duplication (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 2506383	NM_172250.3(MMAA):c.282_287del (p.Ile94_Gly96delinsMet)	MMAA	Deletion (inframe_indel)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 2441443	NM_172250.3(MMAA):c.188_189del (p.Arg63fs)	MMAA (R63fs)	Microsatellite (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 2433759	NM_172250.3(MMAA):c.46C>A (p.Leu16Ile)	MMAA (L16I)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 2433758	NM_172250.3(MMAA):c.542CTT[2] (p.Ser183del)	MMAA (S183del)	Microsatellite (inframe_deletion)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 2413817	NM_172250.3(MMAA):c.541C>G (p.Pro181Ala)	MMAA (P181A)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 2203575	NM_172250.3(MMAA):c.440-2A>G	MMAA	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 2202735	NM_172250.3(MMAA):c.457G>A (p.Gly153Ser)	MMAA (G153S)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 2200586	NM_172250.3(MMAA):c.831G>A (p.Arg277=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2185733	NM_172250.3(MMAA):c.918T>C (p.Tyr306=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2171338	NM_172250.3(MMAA):c.509G>C (p.Arg170Thr)	MMAA (R170T)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 2164461	NM_172250.3(MMAA):c.1083G>A (p.Lys361=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type	GLikely benign
Select item 2163571	NM_172250.3(MMAA):c.761C>T (p.Ala254Val)	MMAA (A254V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 2160127	NM_172250.3(MMAA):c.185A>G (p.Lys62Arg)	MMAA (K62R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance

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