"Illumina Laboratory Services, Illumina"[submitter] AND "FUCA1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296880	NM_000147.5(FUCA1):c.*544T>A	FUCA1	Single nucleotide variant (3 prime UTR variant)	Fucosidosis	GUncertain significance
Select item 296881	NM_000147.5(FUCA1):c.*527A>G	FUCA1	Single nucleotide variant (3 prime UTR variant)	Fucosidosis	GUncertain significance
Select item 296882	NM_000147.5(FUCA1):c.438_442del	FUCA1	Deletion (3 prime UTR variant)	Fucosidosis	GUncertain significance
Select item 875348	NM_000147.5(FUCA1):c.*342C>A	FUCA1	Single nucleotide variant (3 prime UTR variant)	Fucosidosis	GUncertain significance
Select item 296883	NM_000147.5(FUCA1):c.*286C>A	FUCA1	Single nucleotide variant (3 prime UTR variant)	Fucosidosis	GUncertain significance
Select item 296884	NM_000147.5(FUCA1):c.*270T>C	FUCA1	Single nucleotide variant (3 prime UTR variant)	Fucosidosis	GUncertain significance
Select item 875404	NM_000147.5(FUCA1):c.*97T>C	FUCA1	Single nucleotide variant (3 prime UTR variant)	Fucosidosis	GUncertain significance
Select item 875405	NM_000147.5(FUCA1):c.1260+7A>C	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GConflicting classifications of pathogenicity
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 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 875406	NM_000147.5(FUCA1):c.1076G>A (p.Gly359Glu)	FUCA1 (G359E)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 875407	NM_000147.5(FUCA1):c.1075G>A (p.Gly359Arg)	FUCA1 (G359R)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 875408	NM_000147.5(FUCA1):c.1024A>G (p.Thr342Ala)	FUCA1 (T342A)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 296886	NM_000147.5(FUCA1):c.936G>A (p.Leu312=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis	GConflicting classifications of pathogenicity
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 296887	NM_000147.5(FUCA1):c.825A>T (p.Gly275=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis	GConflicting classifications of pathogenicity
Select item 296888	NM_000147.5(FUCA1):c.649G>A (p.Asp217Asn)	FUCA1 (D217N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 767042	NM_000147.5(FUCA1):c.648C>T (p.Tyr216=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis	GBenign/Likely benign
Select item 876434	NM_000147.5(FUCA1):c.489T>C (p.Asp163=)	FUCA1, LOC126805661	Single nucleotide variant (synonymous variant)	Fucosidosis	GConflicting classifications of pathogenicity
Select item 876435	NM_000147.5(FUCA1):c.472G>A (p.Val158Met)	FUCA1, LOC126805661 (V158M)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
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 874537	NM_000147.5(FUCA1):c.420A>C (p.Glu140Asp)	FUCA1, LOC126805661 (E140D)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
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
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 874538	NM_000147.5(FUCA1):c.389+15G>C	FUCA1, LOC129929685	Single nucleotide variant (intron variant)	Fucosidosis	GConflicting classifications of pathogenicity
Select item 874539	NM_000147.5(FUCA1):c.343T>C (p.Phe115Leu)	FUCA1 (F115L)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 296892	NM_000147.5(FUCA1):c.327G>A (p.Gln109=)	FUCA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 296893	NM_000147.5(FUCA1):c.167C>G (p.Ala56Gly)	FUCA1 (A56G)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 874540	NM_000147.5(FUCA1):c.106C>T (p.Arg36Cys)	FUCA1 (R36C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 296894	NM_000147.5(FUCA1):c.30G>C (p.Pro10=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis	GConflicting classifications of pathogenicity
Select item 193053	NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg)	FUCA1 (P10R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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
Select item 296896	NM_000147.5(FUCA1):c.4C>A (p.Arg2=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis	GConflicting classifications of pathogenicity
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 +1 more	GBenign
Select item 296897	NM_000147.4(FUCA1):c.-44G>A	FUCA1	Single nucleotide variant	Fucosidosis	GUncertain significance
Select item 368872	NM_000147.4(FUCA1):c.-86T>G	FUCA1	Single nucleotide variant	Fucosidosis +1 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38