"Genome-Nilou Lab"[submitter] AND "MTR"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1220586	NM_000254.3(MTR):c.2474-18del	MTR	Deletion (intron variant)	Methylcobalamin deficiency type cblG +1 more	GBenign
Select item 138288	NM_000254.3(MTR):c.2594+15T>C	MTR	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 138289	NM_000254.3(MTR):c.2756A>G (p.Asp919Gly)	MTR (D919G +2 more)	Single nucleotide variant (missense variant)	Methylcobalamin deficiency type cblG +3 more	GBenign
Select item 138290	NM_000254.3(MTR):c.3144A>G (p.Ala1048=)	MTR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 138283	NM_000254.3(MTR):c.3492C>A (p.Arg1164=)	MTR	Single nucleotide variant (synonymous variant)	Disorders of Intracellular Cobalamin Metabolism +3 more	GBenign
Select item 138284	NM_000254.3(MTR):c.3576C>T (p.Leu1192=)	MTR	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 138285	NM_000254.3(MTR):c.3711+15G>T	MTR	Single nucleotide variant (intron variant)	not provided +3 more	GBenign

ClinVar