"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "FUCA1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296885	NM_000147.5(FUCA1):c.1148C>T (p.Thr383Ile)	FUCA1 (T383I)	Single nucleotide variant (missense variant)	Fucosidosis +1 more	GBenign/Likely benign
Select item 558913	NM_000147.5(FUCA1):c.1127G>A (p.Arg376Gln)	FUCA1 (R376Q)	Single nucleotide variant (missense variant)	Fucosidosis	GBenign
Select item 691	NM_000147.5(FUCA1):c.857A>G (p.Gln286Arg)	FUCA1 (Q286R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1415412	NM_000147.5(FUCA1):c.517C>T (p.Arg173Trp)	FUCA1, LOC126805661 (R173W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 296889	NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu)	FUCA1, LOC126805661 (P146L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 193053	NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg)	FUCA1 (P10R)	Single nucleotide variant (missense variant)	Fucosidosis +2 more	GBenign
Select item 296895	NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro)	FUCA1 (A3P)	Single nucleotide variant (missense variant)	Fucosidosis +1 more	GBenign/Likely benign
Select item 193052	NM_000147.5(FUCA1):c.4C>T (p.Arg2Trp)	FUCA1 (R2W)	Single nucleotide variant (missense variant)	Fucosidosis +2 more	GBenign
Select item 193051	NM_000147.4(FUCA1):c.-12T>C	FUCA1	Single nucleotide variant	Fucosidosis +2 more	GBenign

ClinVar