C0796208[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028365	NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly)	HCFC1 (S1900G)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 1028364	NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met)	HCFC1 (V1685M)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 1032310	NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GConflicting classifications of pathogenicity
Select item 1028363	NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr)	HCFC1 (H1431Y)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 1028362	NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr)	HCFC1 (I1225T)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 1028361	NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met)	HCFC1 (T566M)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
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

ClinVar