"Revvity Omics, Revvity"[submitter] AND "MMAA"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2441443	NM_172250.3(MMAA):c.188_189del (p.Arg63fs)	MMAA (R63fs)	Microsatellite (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely 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 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 2433758	NM_172250.3(MMAA):c.542CTT[2] (p.Ser183del)	MMAA (S183del)	Microsatellite (inframe_deletion)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 552542	NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)	MMAA (G278D)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +1 more	GConflicting classifications of pathogenicity
Select item 760801	NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)	MMAA (I335F)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GConflicting classifications of pathogenicity
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 347608	NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys)	MMAA (E393K)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +1 more	GUncertain significance
Select item 347622	NM_172250.3(MMAA):c.*703C>T	MMAA	Single nucleotide variant (3 prime UTR variant)	Methylmalonic aciduria, cblA type	GUncertain significance