"Baylor Genetics"[submitter] AND "MMAA"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2676600	NM_172250.3(MMAA):c.54del (p.Ala19fs)	MMAA (A19fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 218969	NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)	MMAA (R22*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type +2 more	GPathogenic
Select item 2676596	NM_172250.3(MMAA):c.112del (p.Ile38fs)	MMAA (I38fs)	Deletion (frameshift variant)	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 2676607	NM_172250.3(MMAA):c.260_267dup (p.Tyr90fs)	MMAA (Y90fs)	Duplication (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 218971	NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)	MMAA (L89P)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 3158	NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)	MMAA (Q95*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +1 more	GPathogenic
Select item 440799	NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del)	MMAA	Deletion (inframe_deletion)	Methylmalonic aciduria, cblA type	GPathogenic/Likely 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 218972	NM_172250.3(MMAA):c.358C>T (p.Gln120Ter)	MMAA (Q120*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 1455101	NM_172250.3(MMAA):c.365T>C (p.Leu122Pro)	MMAA (L122P)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 203814	NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)	MMAA (Y129*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type +3 more	GPathogenic
Select item 2676609	NM_172250.3(MMAA):c.405del (p.Gln135fs)	MMAA (Q135fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 550209	NM_172250.3(MMAA):c.411_414del (p.Asn137fs)	MMAA (N137fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type +1 more	GPathogenic/Likely pathogenic
Select item 3160	NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	MMAA (R145*)	Single nucleotide variant (nonsense)	MMAA-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 1073197	NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)	MMAA (R145Q)	Single nucleotide variant (missense variant)	Methylmalonic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 558172	NM_172250.3(MMAA):c.439+1G>A	MMAA	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 549964	NM_172250.3(MMAA):c.439+4_439+7del	MMAA	Deletion (splice donor variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 551182	NM_172250.3(MMAA):c.450dup (p.Pro151fs)	MMAA (P151fs)	Duplication (frameshift variant)	Methylmalonic aciduria, cblA type +2 more	GPathogenic
Select item 554640	NM_172250.3(MMAA):c.551dup (p.Cys184fs)	MMAA (C184fs)	Duplication (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 218975	NM_172250.3(MMAA):c.562G>C (p.Gly188Arg)	MMAA (G188R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
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 466217	NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)	MMAA (R196*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type +2 more	GPathogenic
Select item 203815	NM_172250.3(MMAA):c.593_596del (p.Thr198fs)	MMAA (T198fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type +2 more	GPathogenic
Select item 2676611	NM_172250.3(MMAA):c.601del (p.Ser201fs)	MMAA (S201fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 218976	NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)	MMAA (L217*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type +1 more	GPathogenic/Likely pathogenic
Select item 218977	NM_172250.3(MMAA):c.653G>A (p.Gly218Glu)	MMAA (G218E)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +1 more	GLikely pathogenic
Select item 440805	NM_172250.3(MMAA):c.658G>A (p.Val220Met)	MMAA (V220M)	Single nucleotide variant (missense 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 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 218978	NM_172250.3(MMAA):c.733+1G>A	MMAA	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 496554	NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)	MMAA (Q248*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type +1 more	GPathogenic
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 3241951	NM_172250.3(MMAA):c.780del (p.Phe260fs)	MMAA (F260fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 848322	NM_172250.3(MMAA):c.820-1G>C	MMAA	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 440808	NM_172250.3(MMAA):c.820-1G>A	MMAA	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 2676594	NM_172250.3(MMAA):c.936dup (p.Leu313fs)	MMAA (L313fs)	Duplication (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
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 203816	NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)	MMAA (R330*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +2 more	GPathogenic
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 2676608	NM_172250.3(MMAA):c.1042del (p.Asp347_Leu348insTer)	MMAA	Deletion (nonsense)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 466216	NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)	MMAA (R359*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type +1 more	GPathogenic/Likely pathogenic
Select item 218979	NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln)	MMAA (R359Q)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GPathogenic
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 554165	NM_172250.3(MMAA):c.1114del (p.Gln372fs)	MMAA (Q372fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 1954560	NM_172250.3(MMAA):c.1117G>T (p.Glu373Ter)	MMAA (E373*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 1029265	NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)	MMAA (R386Q)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance

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Items: 48