Total 95 pathogenic variants reported for Fucosidosis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000147.5(FUCA1):c.1279C>T (p.Gln427Ter) SNV
Germline		 Chr1:23845837 Pathogenic Fucosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA114434 rs_118204450

4 SubmittersRCV000000716
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter) SNV
Germline		 Chr1:23848671 Pathogenic Fucosidosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA114436 rs_80358195

5 SubmittersRCV000000718RCV003159089
NM_000147.5(FUCA1):c.969+1G>A SNV
Germline		 Chr1:23854359 Pathogenic Fucosidosis No Assertion Criteria Provided
 CA339038271 rs_1570679652

1 SubmittersRCV000000719
NM_000147.5(FUCA1):c.244C>T (p.Gln82Ter) SNV
Germline		 Chr1:23868043 Pathogenic Fucosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA114438 rs_80358196

3 SubmittersRCV000000720
NM_000147.5(FUCA1):c.1160G>A (p.Trp387Ter) SNV
Germline		 Chr1:23848649 Pathogenic Fucosidosis No Assertion Criteria Provided
 CA114440 rs_80358197

1 SubmittersRCV000000721
NM_000147.5(FUCA1):c.648C>A (p.Tyr216Ter) SNV
Germline		 Chr1:23863148 Pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA114442 rs_80358198

2 SubmittersRCV000000722
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg) SNV
Germline		 Chr1:23846105 Likely pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA114446 rs_80358199

2 SubmittersRCV000000727
NM_000147.5(FUCA1):c.464C>T (p.Ser155Phe) SNV
Germline		 Chr1:23865551 Pathogenic Fucosidosis No Assertion Criteria Provided
 CA150624 rs_587779398

1 SubmittersRCV000087085
NM_000147.5(FUCA1):c.790C>T (p.Arg264Ter) SNV
Germline		 Chr1:23854539 Pathogenic Fucosidosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA150626 rs_587779399

4 SubmittersRCV000087086RCV005420545
NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter) SNV
Germline		 Chr1:23848684 Pathogenic Fucosidosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA203204 rs_794727774

4 SubmittersRCV000179259RCV000724472
NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter) SNV
Germline		 Chr1:23848727 Pathogenic/Likely pathogenic Condition: not provided
FUCA1-related disorder
Fucosidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA249304 rs_864309551

3 SubmittersRCV000203098RCV003407716RCV003597966
NM_000147.5(FUCA1):c.393T>A (p.Tyr131Ter) SNV
Germline		 Chr1:23865622 Pathogenic Condition: not provided
Fucosidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA686555 rs_781230182

3 SubmittersRCV000255629RCV002229726
NM_000147.5(FUCA1):c.825A>T (p.Gly275=) SNV
Germline		 Chr1:23854504 Conflicting classifications of pathogenicity Fucosidosis Criteria Provided
Conflicting Classifications
 CA686441 rs_199675692

2 SubmittersRCV000295390
NM_000147.5(FUCA1):c.4C>A (p.Arg2=) SNV
Germline		 Chr1:23868283 Conflicting classifications of pathogenicity Fucosidosis Criteria Provided
Conflicting Classifications
 CA10609647 rs_2070955

2 SubmittersRCV000328139
NM_000147.5(FUCA1):c.936G>A (p.Leu312=) SNV
Germline		 Chr1:23854393 Conflicting classifications of pathogenicity Fucosidosis Criteria Provided
Conflicting Classifications
 CA686424 rs_140932886

2 SubmittersRCV000343784
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg) SNV
Germline		 Chr1:23865582 Conflicting classifications of pathogenicity Fucosidosis
Condition: not provided
Intellectual disability
FUCA1-related disorder		 Criteria Provided
Conflicting Classifications
 CA686544 rs_150062050

8 SubmittersRCV000313109RCV000993946RCV001251773RCV003977840
NM_000147.5(FUCA1):c.405G>A (p.Thr135=) SNV
Germline		 Chr1:23865610 Conflicting classifications of pathogenicity Fucosidosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA686551 rs_145153173

3 SubmittersRCV000337682RCV003409449
NM_000147.5(FUCA1):c.30G>C (p.Pro10=) SNV
Germline		 Chr1:23868257 Conflicting classifications of pathogenicity Fucosidosis Criteria Provided
Conflicting Classifications
 CA10609890 rs_886046326

2 SubmittersRCV000267465
NM_000147.5(FUCA1):c.564G>A (p.Trp188Ter) SNV
Germline		 Chr1:23863232 Pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA339006352 rs_189315801

1 SubmittersRCV000578267
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val) SNV
Germline		 Chr1:23865593 Conflicting classifications of pathogenicity Fucosidosis
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA686548 rs_753232669

5 SubmittersRCV000578355RCV004701672RCV004787966
NM_001195553.2(DCX):c.288C>A (p.Asn96Lys) SNV
Unknown		 ChrX:111410111 Likely pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA414246714 rs_1556405057

1 SubmittersRCV000625954
NM_000147.5(FUCA1):c.882G>C (p.Glu294Asp) SNV
Germline		 Chr1:23854447 Conflicting classifications of pathogenicity Fucosidosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA339038458 rs_1483687600

2 SubmittersRCV000690742RCV002275107
NM_000147.5(FUCA1):c.1119A>G (p.Lys373=) SNV
Germline		 Chr1:23848690 Conflicting classifications of pathogenicity Fucosidosis
Condition: not provided
FUCA1-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA686359 rs_370453371

5 SubmittersRCV000878288RCV002064909RCV003930460RCV005436244
NM_000147.5(FUCA1):c.489T>C (p.Asp163=) SNV
Germline		 Chr1:23865526 Conflicting classifications of pathogenicity Fucosidosis Criteria Provided
Conflicting Classifications
 CA416605299 rs_1639604269

2 SubmittersRCV001101224
NM_000147.5(FUCA1):c.1260+7A>C SNV
Germline		 Chr1:23846067 Conflicting classifications of pathogenicity Fucosidosis Criteria Provided
Conflicting Classifications
 CA686308 rs_771229488

2 SubmittersRCV001099224
NM_000147.5(FUCA1):c.389+15G>C SNV
Germline		 Chr1:23867883 Conflicting classifications of pathogenicity Fucosidosis Criteria Provided
Conflicting Classifications
 CA733370760 rs_1395597191

2 SubmittersRCV001097577
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg) SNV
Germline		 Chr1:23859875 Likely pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA339005178 rs_1639470403

1 SubmittersRCV001250216
NM_000147.5(FUCA1):c.1216G>T (p.Gly406Ter) SNV
Germline		 Chr1:23846118 Pathogenic Intellectual disability
Fucosidosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA686314 rs_764863416

3 SubmittersRCV001251771RCV001806089
NM_000147.5(FUCA1):c.995G>A (p.Gly332Glu) SNV
Germline		 Chr1:23848814 Pathogenic Fucosidosis No Assertion Criteria Provided
 CA339036718 rs_1177361428

1 SubmittersRCV001257914
NM_000147.5(FUCA1):c.662+5G>C SNV
Germline		 Chr1:23863129 Pathogenic Fucosidosis No Assertion Criteria Provided
 CA1139656003 rs_941666554

1 SubmittersRCV001257917
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter) SNV
Germline		 Chr1:23854377 Pathogenic/Likely pathogenic Fucosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA339038306 rs_201499886

2 SubmittersRCV001260319
NM_000147.5(FUCA1):c.768+1G>A SNV
Germline		 Chr1:23859797 Pathogenic/Likely pathogenic Fucosidosis
Abnormality of the nervous system		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339004826 rs_1639468949

4 SubmittersRCV001264832RCV001814299
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter) SNV
Germline		 Chr1:23868072 Pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA339009781 rs_1639662981

2 SubmittersRCV001264840
NM_000147.5(FUCA1):c.260C>T (p.Pro87Leu) SNV
Germline		 Chr1:23868027 Conflicting classifications of pathogenicity Fucosidosis
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA686597 rs_138378067

2 SubmittersRCV001992519RCV004043712
NM_000147.5(FUCA1):c.7G>A (p.Ala3Thr) SNV
Germline		 Chr1:23868280 Conflicting classifications of pathogenicity Fucosidosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA686651 rs_61996282

2 SubmittersRCV002022900RCV004763314
NM_000147.5(FUCA1):c.551C>G (p.Ser184Ter) SNV
Germline		 Chr1:23863245 Pathogenic/Likely pathogenic Fucosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA19279638 rs_997047045

2 SubmittersRCV001949421
NM_000147.5(FUCA1):c.1206G>A (p.Trp402Ter) SNV
Germline		 Chr1:23846128 Pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA339034611 rs_1026833196

1 SubmittersRCV002596380
NM_000147.5(FUCA1):c.459G>A (p.Trp153Ter) SNV
Germline		 Chr1:23865556 Pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA339007540 rs_2521745643

1 SubmittersRCV002630057
NM_000147.5(FUCA1):c.194G>A (p.Gly65Asp) SNV
Germline		 Chr1:23868093 Pathogenic Fucosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA339009886 rs_1353778985

2 SubmittersRCV002630058
NM_000147.5(FUCA1):c.579T>A (p.Tyr193Ter) SNV
Germline		 Chr1:23863217 Likely pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA339006268 rs_1335019385

1 SubmittersRCV003145725
NM_000147.5(FUCA1):c.203C>T (p.Ser68Leu) SNV
Germline		 Chr1:23868084 Likely pathogenic Fucosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA339009836 rs_2521760820

2 SubmittersRCV003326295
NM_000147.5(FUCA1):c.216G>A (p.Trp72Ter) SNV
Germline		 Chr1:23868071 Likely pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA686602 rs_781660340

1 SubmittersRCV003340936
NM_000147.5(FUCA1):c.699G>A (p.Trp233Ter) SNV
Germline		 Chr1:23859867 Pathogenic Fucosidosis
FUCA1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA686472 rs_776845108

3 SubmittersRCV003388337RCV003966337
NM_000147.5(FUCA1):c.768+1G>T SNV
Germline		 Chr1:23859797 Likely pathogenic Fucosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA339004828 rs_1639468949

2 SubmittersRCV003496521
NM_000147.5(FUCA1):c.1057G>T (p.Glu353Ter) SNV
Germline		 Chr1:23848752 Pathogenic Fucosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA339036542 rs_2521635192

2 SubmittersRCV003496285
NM_000147.5(FUCA1):c.698G>A (p.Trp233Ter) SNV
Germline		 Chr1:23859868 Pathogenic/Likely pathogenic Fucosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA339005144 rs_1441298926

2 SubmittersRCV003496511
NM_000147.5(FUCA1):c.1000A>T (p.Asn334Tyr) SNV
Germline		 Chr1:23848809 Likely pathogenic Fucosidosis Criteria Provided
Multiple Submitters
No Conflicts
 CA686378 rs_776913133

2 SubmittersRCV003494623
NM_000147.5(FUCA1):c.969+1G>T SNV
Germline		 Chr1:23854359 Pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA339038269 rs_1570679652

1 SubmittersRCV003495621
NM_000147.5(FUCA1):c.80C>A (p.Ser27Ter) SNV
Germline		 Chr1:23868207 Pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA339010674 rs_1484147379

1 SubmittersRCV003599242
NM_000147.5(FUCA1):c.563G>A (p.Trp188Ter) SNV
Germline		 Chr1:23863233 Pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA686500 rs_760219584

1 SubmittersRCV003599505
NM_000147.5(FUCA1):c.291C>G (p.Tyr97Ter) SNV
Germline		 Chr1:23867996 Pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA339009170 rs_140858903

1 SubmittersRCV003599533
NM_000147.5(FUCA1):c.23C>A (p.Ser8Ter) SNV
Germline		 Chr1:23868264 Pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA339010958 rs_550501788

1 SubmittersRCV003599721
NM_000147.5(FUCA1):c.769-2A>C SNV
Germline		 Chr1:23854562 Likely pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA339038792 rs_1250037816

1 SubmittersRCV003597597
NM_000147.5(FUCA1):c.1260+2T>A SNV
Germline		 Chr1:23846072 Pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA339034248 rs_2521617594

1 SubmittersRCV003597709
NM_000147.5(FUCA1):c.557T>A (p.Leu186Ter) SNV
Germline		 Chr1:23863239 Pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA686502 rs_776324076

1 SubmittersRCV003597858
NM_000147.5(FUCA1):c.1261-1G>A SNV
Germline		 Chr1:23845856 Likely pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA339034230 rs_2521616187

1 SubmittersRCV003598630
NM_000147.5(FUCA1):c.1054C>T (p.Gln352Ter) SNV
Germline		 Chr1:23848755 Pathogenic Fucosidosis Criteria Provided
Single Submitter
 CA339036560 rs_1557506070

1 SubmittersRCV003598740
NM_000147.5(FUCA1):c.1161G>A (p.Trp387Ter) SNV
Germline		 Chr1:23846173 Likely pathogenic Fucosidosis Criteria Provided
Single Submitter

1 SubmittersRCV005020464
NM_000147.5(FUCA1):c.911G>A (p.Trp304Ter) SNV
Germline		 Chr1:23854418 Likely pathogenic Fucosidosis Criteria Provided
Single Submitter

1 SubmittersRCV005020469
NM_000147.5(FUCA1):c.837T>A (p.Cys279Ter) SNV
Germline		 Chr1:23854492 Likely pathogenic Fucosidosis Criteria Provided
Single Submitter

1 SubmittersRCV005020475
NM_000147.5(FUCA1):c.524+1G>T SNV
Germline		 Chr1:23865490 Likely pathogenic Fucosidosis Criteria Provided
Single Submitter

1 SubmittersRCV005020503
NM_000147.5(FUCA1):c.418G>A (p.Glu140Lys) SNV
Germline		 Chr1:23865597 Likely pathogenic Fucosidosis Criteria Provided
Single Submitter

1 SubmittersRCV005020504
NM_000147.5(FUCA1):c.360G>A (p.Trp120Ter) SNV
Germline		 Chr1:23867927 Likely pathogenic Fucosidosis Criteria Provided
Single Submitter

1 SubmittersRCV005020508
NM_000147.5(FUCA1):c.191G>A (p.Trp64Ter) SNV
Germline		 Chr1:23868096 Pathogenic Fucosidosis Criteria Provided
Single Submitter

1 SubmittersRCV005116279
NM_000147.5(FUCA1):c.389+2T>G SNV
Germline		 Chr1:23867896 Likely pathogenic Fucosidosis Criteria Provided
Single Submitter

1 SubmittersRCV005123818
NM_000147.5(FUCA1):c.663-1G>C SNV
Germline		 Chr1:23859904 Likely pathogenic Fucosidosis Criteria Provided
Single Submitter

1 SubmittersRCV005171088
NM_000147.5(FUCA1):c.768+2T>C SNV
Germline		 Chr1:23859796 Likely pathogenic Fucosidosis Criteria Provided
Single Submitter

1 SubmittersRCV005171112