C1855114[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1423	NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	MMACHC (R132* +1 more)	Single nucleotide variant (nonsense)	cblC type of combined methylmalonic aciduria and homocystinuria +3 more	GPathogenic
Select item 1339243	NM_000255.4(MMUT):c.2213A>G (p.Asp738Gly)	MMUT (D738G)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 418341	NM_000255.4(MMUT):c.643G>T (p.Gly215Cys)	MMUT (G215C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1339246	NM_000255.4(MMUT):c.595T>G (p.Phe199Val)	MMUT (F199V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 451101	NM_000255.4(MMUT):c.571G>A (p.Ala191Thr)	MMUT (A191T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2585581	NM_000255.4(MMUT):c.438del (p.Gly145_Tyr146insTer)	MMUT	Deletion (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic

ClinVar