| - GRCh37:
- Chr14:66209091
- GRCh38:
- Chr14:65742373
| FUT8 | T401M, T564M, T598M | Congenital disorder of glycosylation with defective fucosylation 1 | Uncertain significance
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:66188609
- GRCh38:
- Chr14:65721891
| FUT8 | R155*, R318*, R352* | Congenital disorder of glycosylation with defective fucosylation 1 | Likely pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:66200095
- GRCh38:
- Chr14:65733377
| FUT8 | S306F, S469F, S503F | Congenital disorder of glycosylation with defective fucosylation 1 | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:66136163
- GRCh38:
- Chr14:65669445
| FUT8 | T104K, T267K, T301K | not provided, Congenital disorder of glycosylation with defective fucosylation 1 | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:66209075
- GRCh38:
- Chr14:65742357
| FUT8 | R593*, R396*, R559* | Congenital disorder of glycosylation with defective fucosylation 1 | Uncertain significance
(Jul 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:66028293
- GRCh38:
- Chr14:65561575
| FUT8 | W4* | Congenital disorder of glycosylation with defective fucosylation 1 | Likely pathogenic
(Sep 23, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr14:66082714
- GRCh38:
- Chr14:65615996
| FUT8 | I74M | not provided, Congenital disorder of glycosylation with defective fucosylation 1, Inborn genetic diseases
| Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:66188600
- GRCh38:
- Chr14:65721882
| FUT8 | R315*, R152*, R349* | Congenital disorder of glycosylation with defective fucosylation 1 | Pathogenic
(Feb 20, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr14:66191046
- GRCh38:
- Chr14:65724328
| FUT8 | | Congenital disorder of glycosylation with defective fucosylation 1 | Pathogenic
(Feb 20, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr14:66188666
- GRCh38:
- Chr14:65721948
| FUT8 | R337G, R174G, R371G | Congenital disorder of glycosylation with defective fucosylation 1 | Pathogenic
(Feb 20, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr14:66136078
- GRCh38:
- Chr14:65669360
| FUT8 | R239*, R76*, R273* | not provided, Inborn genetic diseases | Pathogenic
(May 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:66028446
- GRCh38:
- Chr14:65561728
| FUT8 | | Congenital disorder of glycosylation with defective fucosylation 1, not provided, not specified
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |