"Clinical Genetics, Academic Medical Center"[submitter] AND "MMUT"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92685	NM_000255.4(MMUT):c.2011A>G (p.Ile671Val)	MMUT (I671V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 357254	NM_000255.4(MMUT):c.1991C>T (p.Ala664Val)	MMUT (A664V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 92682	NM_000255.4(MMUT):c.1629C>T (p.Ser543=)	MMUT	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 92681	NM_000255.4(MMUT):c.1595G>A (p.Arg532His)	MMUT (R532H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 522265	NM_000255.4(MMUT):c.754-7del	MMUT	Deletion (intron variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GBenign/Likely benign
Select item 92687	NM_000255.4(MMUT):c.636G>A (p.Lys212=)	MMUT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign

ClinVar