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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7029	NM_002454.3(MTRR):c.66A>G (p.Ile22Met)	MTRR (I22M)	Single nucleotide variant (missense variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +2 more	GBenign
Select item 354344	NM_002454.3(MTRR):c.210C>G (p.Arg70=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +2 more	GBenign/Likely benign
Select item 138304	NM_002454.3(MTRR):c.524C>T (p.Ser175Leu)	MTRR (S175L)	Single nucleotide variant (missense variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +2 more	GBenign
Select item 354359	NM_002454.3(MTRR):c.997C>G (p.Leu333Val)	MTRR (L333V)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE +3 more	GBenign
Select item 439918	NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala)	MTRR (T490A)	Single nucleotide variant (missense variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +2 more	GBenign/Likely benign
Select item 138302	NM_002454.3(MTRR):c.1911G>A (p.Ala637=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +2 more	GBenign

ClinVar