"GeneReviews"[submitter] AND "HCFC1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66984	NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)	HCFC1 (A115V)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GPathogenic
Select item 2136311	NM_005334.3(HCFC1):c.343G>A (p.Ala115Thr)	HCFC1 (A115T)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism	Gnot provided
Select item 2136310	NM_005334.3(HCFC1):c.307T>C (p.Tyr103His)	HCFC1 (Y103H)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism	Gnot provided
Select item 66985	NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)	HCFC1 (A73V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 66986	NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr)	HCFC1 (A73T)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GPathogenic
Select item 2136307	NM_005334.3(HCFC1):c.202C>G (p.Gln68Glu)	HCFC1 (Q68E)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism	Gnot provided

ClinVar