"PreventionGenetics, part of Exact Sciences"[submitter] AND "MTRR"[gen - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058082	NM_002454.3(MTRR):c.-45G>T	LOC129993631, MTRR	Single nucleotide variant (5 prime UTR variant +2 more)	MTRR-related disorder	GLikely benign
Select item 764651	NM_002454.3(MTRR):c.27T>C (p.Ala9=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	MTRR-related disorder +2 more	GConflicting classifications of pathogenicity
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 382405	NM_002454.3(MTRR):c.288C>T (p.Leu96=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +4 more	GBenign/Likely benign
Select item 1452948	NM_002454.3(MTRR):c.354_358del (p.Gly119fs)	MTRR (G119fs)	Deletion (frameshift variant +1 more)	Methylcobalamin deficiency type cblE +1 more	GPathogenic/Likely pathogenic
Select item 750673	NM_002454.3(MTRR):c.507G>C (p.Val169=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	MTRR-related disorder +1 more	GLikely benign
Select item 354356	NM_002454.3(MTRR):c.739C>T (p.Pro247Ser)	MTRR (P247S)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE +3 more	GLikely benign
Select item 1147563	NM_002454.3(MTRR):c.958A>G (p.Ser320Gly)	MTRR (S320G)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE +1 more	GLikely benign
Select item 387712	NM_002454.3(MTRR):c.1544C>T (p.Ala515Val)	MTRR (A515V)	Single nucleotide variant (missense variant +1 more)	MTRR-related disorder +2 more	GLikely benign
Select item 650985	NM_002454.3(MTRR):c.1677-2dup	MTRR	Duplication (splice acceptor variant)	MTRR-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 386715	NM_002454.3(MTRR):c.1819G>A (p.Val607Ile)	MTRR (V607I)	Single nucleotide variant (missense variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +3 more	GBenign/Likely benign
Select item 203841	NM_002454.3(MTRR):c.1982A>G (p.His661Arg)	MTRR (H661R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 732169	NM_002454.3(MTRR):c.2073C>T (p.Arg691=)	MTRR	Single nucleotide variant (synonymous variant +1 more)	Methylcobalamin deficiency type cblE +1 more	GLikely benign