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

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1411947	NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu)	MTR (R43L)	Indel (missense variant +1 more)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 296561	NM_000254.3(MTR):c.1141G>A (p.Ala381Thr)	MTR (A381T)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG +2 more	GConflicting classifications of pathogenicity
Select item 579433	NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)	MTR (D621G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 648454	NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs)	MTR (E258fs +1 more)	Insertion (frameshift variant)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 1310236	NM_000254.3(MTR):c.2032G>T (p.Ala678Ser)	MTR (A271S +1 more)	Single nucleotide variant (missense variant)	Methylcobalamin deficiency type cblG +1 more	GUncertain significance
Select item 959098	NM_000254.3(MTR):c.2813G>T (p.Ser938Ile)	MTR (S938I +2 more)	Single nucleotide variant (missense variant)	Methylcobalamin deficiency type cblG	GUncertain significance
Select item 1324749	NM_000254.3(MTR):c.3053dup (p.Asn1018fs)	MTR (N1018fs +2 more)	Duplication (frameshift variant)	Methylcobalamin deficiency type cblG	GLikely pathogenic
Select item 2433829	NM_000254.3(MTR):c.3718G>T (p.Asp1240Tyr)	MTR (D1177Y +3 more)	Single nucleotide variant (missense variant)	Methylcobalamin deficiency type cblG	GUncertain significance