"Centre de Biologie Pathologie Génétique, Centre Hospitalier Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 975241	NM_000147.5(FUCA1):c.1216G>T (p.Gly406Ter)	FUCA1 (G406*)	Single nucleotide variant (nonsense)	Fucosidosis	GPathogenic
Select item 975242	NM_000147.5(FUCA1):c.1093A>G (p.Asn365Asp)	FUCA1 (N365D)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 296890	NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)	FUCA1, LOC126805661 (W145R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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