C1856057[trait identifier] AND "OMIM"[submitter] - 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 662553	NM_002454.3(MTRR):c.903+469T>C	MTRR	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GPathogenic
Select item 7033	NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)	MTRR (S454L)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE +2 more	GPathogenic
Select item 7030	NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg)	MTRR (G487R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 7031	NM_002454.3(MTRR):c.1622_1623dup (p.Met542Ter)	MTRR (M542*)	Duplication (nonsense +1 more)	Methylcobalamin deficiency type cblE	GPathogenic
Select item 7028	NM_002454.3(MTRR):c.1725GTT[1] (p.Leu576del)	MTRR (L576del)	Microsatellite (inframe_deletion +1 more)	Methylcobalamin deficiency type cblE	GPathogenic
Select item 7027	MTRR, 4-BP DEL, NT1675	MTRR	Deletion	Methylcobalamin deficiency type cblE	GPathogenic

ClinVar