"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MTR"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296550	NM_000254.3(MTR):c.250-7G>A	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG +4 more	GBenign/Likely benign
Select item 1374754	NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)	MTR (S43D +1 more)	Inversion (missense variant)	Methylcobalamin deficiency type cblG +1 more	GConflicting classifications of pathogenicity
Select item 853952	NM_000254.3(MTR):c.1542A>T (p.Arg514Ser)	MTR (R107S +1 more)	Single nucleotide variant (missense variant)	Neural tube defects, folate-sensitive +1 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)	Methylcobalamin deficiency type cblG +4 more	GConflicting classifications of pathogenicity
Select item 14279	NM_000254.3(MTR):c.2640_2642del (p.Ile881del)	MTR (I881del +2 more)	Deletion (inframe_deletion)	Methylcobalamin deficiency type cblG +1 more	GUncertain significance
Select item 138282	NM_000254.3(MTR):c.3474G>A (p.Leu1158=)	MTR	Single nucleotide variant (synonymous variant)	Methylcobalamin deficiency type cblG +4 more	GBenign/Likely benign
Select item 296585	NM_000254.3(MTR):c.3712-7T>G	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG +3 more	GBenign/Likely benign

ClinVar