"Centre for Inherited Metabolic Diseases, Karolinska University Hospit - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048517	NM_000254.3(MTR):c.609+1088G>A	MTR	Single nucleotide variant (intron variant)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 1048518	NM_000254.3(MTR):c.2788_2791del (p.Leu930fs)	MTR (L523fs +2 more)	Deletion (frameshift variant)	Methylcobalamin deficiency type cblG	GPathogenic
Select item 14278	NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)	MTR (P1173L +2 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +3 more	GPathogenic

Format

Sort by

Choose Destination

ClinVar