"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "FUCA1"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 707341	NM_000147.5(FUCA1):c.1119A>G (p.Lys373=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis +2 more	GConflicting classifications of pathogenicity
Select item 1656889	NM_000147.5(FUCA1):c.1077G>A (p.Gly359=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis +1 more	GLikely benign
Select item 772101	NM_000147.5(FUCA1):c.861C>T (p.Ser287=)	FUCA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 806089	NM_000147.5(FUCA1):c.522G>T (p.Lys174Asn)	FUCA1, LOC126805661 (K174N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1586759	NM_000147.5(FUCA1):c.502T>C (p.Leu168=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant)	Fucosidosis +1 more	GLikely benign
Select item 296890	NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)	FUCA1, LOC126805661 (W145R)	Single nucleotide variant (missense variant)	FUCA1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 296891	NM_000147.5(FUCA1):c.405G>A (p.Thr135=)	LOC126805661, FUCA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar