"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MMAA"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 990264	NM_172250.3(MMAA):c.92G>A (p.Ser31Asn)	MMAA (S31N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 203815	NM_172250.3(MMAA):c.593_596del (p.Thr198fs)	MMAA (T198fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type +2 more	GPathogenic
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 466218	NM_172250.3(MMAA):c.800C>T (p.Ala267Val)	MMAA (A267V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +1 more	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 648919	NM_172250.3(MMAA):c.989G>A (p.Arg330Gln)	MMAA (R330Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1346914	NM_172250.3(MMAA):c.1198G>T (p.Ala400Ser)	MMAA (A400S)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance