Links from MedGen
Items: 9
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr12:52842643
- GRCh38:
- Chr12:52448859
| KRT6B | D396N | Pachyonychia congenita 4, not provided | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52845801
- GRCh38:
- Chr12:52452017
| KRT6B | N21S | Pachyonychia congenita 4 | Benign
(Aug 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:52842736
- GRCh38:
- Chr12:52448952
| KRT6B | I365V | not provided, Pachyonychia congenita 4 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52841765
- GRCh38:
- Chr12:52447981
| KRT6B | | Pachyonychia congenita 4, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52841580
- GRCh38:
- Chr12:52447796
| KRT6B | L469R | Pachyonychia congenita 4 | Pathogenic
(Mar 6, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr12:52841174
- GRCh38:
- Chr12:52447390
| KRT6B | G499S | Pachyonychia congenita 4, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52845345-52845347
- GRCh38:
- Chr12:52451561-52451563
| KRT6B | N172del | Pachyonychia congenita 4, not provided | Pathogenic
(Apr 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52841605
- GRCh38:
- Chr12:52447821
| KRT6B | E461K | Pachyonychia congenita 4, not provided | Pathogenic/Likely pathogenic
(Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52841572
- GRCh38:
- Chr12:52447788
| KRT6B | E472K | Pachyonychia congenita 4, not provided | Pathogenic
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |