| - GRCh37:
- Chr17:39767303
- GRCh38:
- Chr17:41611051
| KRT16 | | not provided, Palmoplantar keratoderma, nonepidermolytic, focal 1, Pachyonychia congenita 1
| Uncertain significance
(Dec 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:39766504
- GRCh38:
- Chr17:41610252
| KRT16 | | not provided, Pachyonychia congenita 1, Palmoplantar keratoderma, nonepidermolytic, focal 1
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:39767744
- GRCh38:
- Chr17:41611492
| KRT16 | | not provided, Pachyonychia congenita 1, Palmoplantar keratoderma, nonepidermolytic, focal 1
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:39767724
- GRCh38:
- Chr17:41611472
| KRT16 | T215S | not provided, Pachyonychia congenita 1 | Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:39768874
- GRCh38:
- Chr17:41612622
| KRT16 | G23S | Palmoplantar keratoderma, nonepidermolytic, focal 1, Pachyonychia congenita 1, not provided
| Benign/Likely benign
(Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:39767966
- GRCh38:
- Chr17:41611714
| KRT16 | A180V | Pachyonychia congenita 1, Localized epidermolytic hyperkeratosis, not provided
| Conflicting interpretations of pathogenicity
(Oct 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:39768562
- GRCh38:
- Chr17:41612310
| KRT16 | R127G | Pachyonychia congenita 1, Palmoplantar keratoderma, nonepidermolytic, focal 1, not provided
| Pathogenic/Likely pathogenic
(Apr 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:39768576
- GRCh38:
- Chr17:41612324
| KRT16 | Q122R | Pachyonychia congenita 1 | Likely pathogenic
(Apr 8, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr17:39768567-39768568
- GRCh38:
- Chr17:41612315-41612316
| KRT16 | N125G | Pachyonychia congenita 1 | Pathogenic
(Jul 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr17:39768568
- GRCh38:
- Chr17:41612316
| KRT16 | N125D | not provided | Pathogenic
(Jan 4, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:39768570
- GRCh38:
- Chr17:41612318
| KRT16 | L124H | Pachyonychia congenita 1, Palmoplantar keratoderma, nonepidermolytic, focal 1, not provided
| Pathogenic/Likely pathogenic
(Oct 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:39768558
- GRCh38:
- Chr17:41612306
| KRT16 | L128Q | Pachyonychia congenita 1 | Pathogenic
(Dec 1, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr17:39768579
- GRCh38:
- Chr17:41612327
| KRT16 | M121T | Palmoplantar keratoderma, nonepidermolytic, focal 1, Pachyonychia congenita 1, not provided
| Pathogenic/Likely pathogenic
(Jul 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:39766801
- GRCh38:
- Chr17:41610549
| KRT16 | K354N | not provided, Pachyonychia congenita 1 | Conflicting interpretations of pathogenicity
(Oct 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:39768570
- GRCh38:
- Chr17:41612318
| KRT16 | L124R | Pachyonychia congenita 1 | Pathogenic
(Jun 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr17:39768576
- GRCh38:
- Chr17:41612324
| KRT16 | Q122P | Pachyonychia congenita 1 | Pathogenic
(Dec 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr17:39768561
- GRCh38:
- Chr17:41612309
| KRT16 | R127P | Pachyonychia congenita 1 | Pathogenic
(Dec 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr17:39768550-39768552
- GRCh38:
- Chr17:41612298-41612300
| KRT16 | S130del | not provided | Pathogenic
(Dec 14, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr17:39768567
- GRCh38:
- Chr17:41612315
| KRT16 | N125S | Palmoplantar keratoderma, nonepidermolytic, focal 1, Pachyonychia congenita 1, not provided
| Pathogenic
(Feb 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:39768562
- GRCh38:
- Chr17:41612310
| KRT16 | R127C | KRT16-related condition, Palmoplantar keratoderma, nonepidermolytic, focal 1, Pachyonychia congenita 1,
not provided, Pachyonychia congenita 1 | Pathogenic
(Feb 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:39768546
- GRCh38:
- Chr17:41612294
| KRT16 | L132P | not provided | Pathogenic
(Apr 23, 2019) | criteria provided, single submitter |