| - GRCh37:
- Chr12:52884739
- GRCh38:
- Chr12:52490955
| KRT6A | | Pachyonychia congenita 3 | Uncertain significance
(May 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:52883714
- GRCh38:
- Chr12:52489930
| KRT6A | | not provided, Pachyonychia congenita 3 | Benign/Likely benign
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52881670
- GRCh38:
- Chr12:52487886
| KRT6A | G510V | Pachyonychia congenita 3 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr12:52886911
- GRCh38:
- Chr12:52493127
| KRT6A | N21S | Pachyonychia congenita 3 | Benign
(Aug 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:52884735
- GRCh38:
- Chr12:52490951
| KRT6A | | not provided, Pachyonychia congenita 3 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52882094
- GRCh38:
- Chr12:52488310
| KRT6A | | not provided, Pachyonychia congenita 3 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52886490
- GRCh38:
- Chr12:52492706
| KRT6A | | not provided, Pachyonychia congenita 3 | Benign
(Aug 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52883862
- GRCh38:
- Chr12:52490078
| KRT6A | | Pachyonychia congenita 3 | Uncertain significance
(Feb 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:52882155
- GRCh38:
- Chr12:52488371
| KRT6A | E461* | Pachyonychia congenita 3 | Likely pathogenic
(Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:52886478
- GRCh38:
- Chr12:52492694
| KRT6A | | Pachyonychia congenita 3, not provided | Benign/Likely benign
(Aug 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52881741
- GRCh38:
- Chr12:52487957
| KRT6A | | Pachyonychia congenita 3 | Pathogenic
(Jul 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr12:52886452
- GRCh38:
- Chr12:52492668
| KRT6A | F174S | Pachyonychia congenita 3 | Pathogenic
(Oct 1, 2005) | no assertion criteria provided |
| - GRCh37:
- Chr12:52886460
- GRCh38:
- Chr12:52492676
| KRT6A | N171K | Pachyonychia congenita 3, not provided | Pathogenic
(Jul 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52886461
- GRCh38:
- Chr12:52492677
| KRT6A | N171S | Pachyonychia congenita 3, not provided | Pathogenic
(Aug 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52886462
- GRCh38:
- Chr12:52492678
| KRT6A | N171Y | Pachyonychia congenita 3, not provided | not provided | no assertion provided |
| - GRCh37:
- Chr12:52886462
- GRCh38:
- Chr12:52492678
| KRT6A | N171D | not provided | Pathogenic
(Feb 15, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:52882130
- GRCh38:
- Chr12:52488346
| KRT6A | L469P | Pachyonychia congenita 3 | Pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:52882130
- GRCh38:
- Chr12:52488346
| KRT6A | L469R | Pachyonychia congenita 3 | Pathogenic
(Dec 1, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr12:52882122
- GRCh38:
- Chr12:52488338
| KRT6A | E472K | Pachyonychia congenita 3, not provided | Pathogenic/Likely pathogenic
(Jan 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52886453
- GRCh38:
- Chr12:52492669
| KRT6A | F174V | Pachyonychia congenita 3 | Pathogenic
(Dec 1, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr12:52886455-52886457
- GRCh38:
- Chr12:52492671-52492673
| KRT6A | N172del | Pachyonychia congenita 3, not provided | Pathogenic
(Jul 20, 2021) | criteria provided, multiple submitters, no conflicts |