"Revvity Omics, Revvity"[submitter] AND "MTRR"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433831	NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)	MTRR (R121Q)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 391669	NM_002454.3(MTRR):c.446C>T (p.Ala149Val)	MTRR (A149V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1358300	NM_002454.3(MTRR):c.589G>C (p.Asp197His)	MTRR (D197H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1409800	NM_002454.3(MTRR):c.735A>C (p.Leu245Phe)	MTRR (L245F)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblE	GUncertain significance
Select item 2690648	NM_002454.3(MTRR):c.903+1G>A	MTRR	Single nucleotide variant (splice donor variant)	Methylcobalamin deficiency type cblE	GLikely pathogenic
Select item 1324750	NM_002454.3(MTRR):c.916del (p.Ser306fs)	MTRR (S306fs)	Deletion (non-coding transcript variant +1 more)	Methylcobalamin deficiency type cblE	GLikely pathogenic
Select item 354361	NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu)	MTRR (D394E)	Single nucleotide variant (missense variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +2 more	GUncertain significance
Select item 2441590	NM_002454.3(MTRR):c.1676+2T>C	MTRR	Single nucleotide variant (splice donor variant)	Methylcobalamin deficiency type cblE	GLikely pathogenic
Select item 1362019	NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe)	MTRR (L593F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance