"Genome-Nilou Lab"[submitter] AND "MMAB"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96245	NM_052845.4(MMAB):c.716T>A (p.Met239Lys)	MMAB (M239K)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type +2 more	GBenign
Select item 218324	NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)	MMAB (R191W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 307079	NM_052845.4(MMAB):c.561C>T (p.Ala187=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type	GConflicting classifications of pathogenicity
Select item 1209578	NM_052845.4(MMAB):c.472G>A (p.Asp158Asn)	MMAB (D158N)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GUncertain significance
Select item 1125192	NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)	MMAB, MVK (R31C)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GConflicting classifications of pathogenicity
Select item 1209579	NM_052845.4(MMAB):c.35T>C (p.Leu12Pro)	MMAB, MVK (L12P)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance

ClinVar