"PreventionGenetics, part of Exact Sciences"[submitter] AND "FUCA1"[ge - ClinVar - NCBI

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Items: 13

	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)	not provided +2 more	GBenign/Likely benign
Select item 558913	NM_000147.5(FUCA1):c.1127G>A (p.Arg376Gln)	FUCA1 (R376Q)	Single nucleotide variant (missense variant)	FUCA1-related condition +1 more	GBenign
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 218428	NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter)	FUCA1 (W361*)	Single nucleotide variant (nonsense)	Fucosidosis +2 more	GPathogenic/Likely pathogenic
Select item 235414	NM_000147.5(FUCA1):c.778G>A (p.Val260Ile)	FUCA1 (V260I)	Single nucleotide variant (missense variant)	FUCA1-related condition +2 more	GLikely benign
Select item 2627143	NM_000147.5(FUCA1):c.699G>A (p.Trp233Ter)	FUCA1 (W233*)	Single nucleotide variant (nonsense +1 more)	Fucosidosis +1 more	GPathogenic/Likely pathogenic
Select item 1081527	NM_000147.5(FUCA1):c.532C>T (p.Arg178Cys)	FUCA1 (R178C)	Single nucleotide variant (missense variant)	Fucosidosis +1 more	GLikely benign
Select item 772508	NM_000147.5(FUCA1):c.525-8T>G	FUCA1	Single nucleotide variant (intron variant)	FUCA1-related condition +1 more	GLikely benign
Select item 296889	NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu)	LOC126805661, FUCA1 (P146L)	Single nucleotide variant (missense variant)	Fucosidosis +2 more	GBenign/Likely 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 287588	NM_000147.5(FUCA1):c.402G>C (p.Leu134Phe)	FUCA1, LOC126805661 (L134F)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2632113	NM_000147.5(FUCA1):c.88C>T (p.Arg30Trp)	FUCA1 (R30W)	Single nucleotide variant (missense variant +1 more)	FUCA1-related condition	GUncertain significance
Select item 296895	NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro)	FUCA1 (A3P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign