| - GRCh37:
- Chr16:30997122
- GRCh38:
- Chr16:30985801
| HSD3B7 | P48R | Congenital bile acid synthesis defect 1 | Uncertain significance
(Nov 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:30998311
- GRCh38:
- Chr16:30986990
| HSD3B7 | R228W | Congenital bile acid synthesis defect 1 | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:30999425
- GRCh38:
- Chr16:30988104
| HSD3B7 | Y344C | Congenital bile acid synthesis defect 1 | Uncertain significance
(Jan 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:30998318
- GRCh38:
- Chr16:30986997
| HSD3B7 | Y230C | Congenital bile acid synthesis defect 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr16:30998186
- GRCh38:
- Chr16:30986865
| HSD3B7 | T186M | Congenital bile acid synthesis defect 1 | Uncertain significance
(Oct 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:30997993
- GRCh38:
- Chr16:30986672
| HSD3B7 | E167* | Congenital bile acid synthesis defect 1 | Pathogenic
(Nov 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:30998187
- GRCh38:
- Chr16:30986866
| HSD3B7 | | Congenital bile acid synthesis defect 1, not provided | Uncertain significance
(Nov 3, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:30999142
- GRCh38:
- Chr16:30987821
| HSD3B7 | T250A | not provided, not specified, Congenital bile acid synthesis defect 1
| Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:30999462
- GRCh38:
- Chr16:30988141
| HSD3B7 | | not specified, not provided, Congenital bile acid synthesis defect 1
| Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:30997024-30997025
- GRCh38:
- Chr16:30985703-30985704
| HSD3B7 | G17fs | not provided, Congenital bile acid synthesis defect 1 | Pathogenic
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:30997933
- GRCh38:
- Chr16:30986612
| HSD3B7 | E147K | not provided, Congenital bile acid synthesis defect 1 | Pathogenic
(Jan 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:30997526
- GRCh38:
- Chr16:30986205
| HSD3B7 | | Congenital bile acid synthesis defect 1 | Pathogenic
(Apr 1, 2003) | no assertion criteria provided |
| - GRCh37:
- Chr16:30997494-30997495
- GRCh38:
- Chr16:30986173-30986174
| HSD3B7 | K99fs | not provided | Pathogenic
(Jan 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:30999433-30999434
- GRCh38:
- Chr16:30988112-30988113
| HSD3B7 | L347fs | Congenital bile acid synthesis defect 1 | Pathogenic
(Apr 1, 2003) | no assertion criteria provided |