C0796208[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376762	NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile)	HCFC1 (M1806I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1640844	NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GBenign/Likely benign
Select item 439784	NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr)	HCFC1 (A1526T)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GUncertain significance
Select item 1497065	NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile)	HCFC1 (T1525I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 582050	NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)	HCFC1 (R1385G)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GConflicting classifications of pathogenicity
Select item 386352	NM_005334.3(HCFC1):c.2394C>T (p.Ile798=)	HCFC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1254144	NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val)	HCFC1 (A744V)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GUncertain significance

ClinVar