| - GRCh37:
- Chr8:102678972
- GRCh38:
- Chr8:101666744
| GRHL2 | | Autosomal dominant nonsyndromic hearing loss 28, Corneal dystrophy, posterior polymorphous, 4, Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,
not provided | Benign
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:102504974
- GRCh38:
- Chr8:101492746
| GRHL2 | | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome, Corneal dystrophy, posterior polymorphous, 4, not specified,
Autosomal dominant nonsyndromic hearing loss 28 | Benign
(Aug 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:102678798
- GRCh38:
- Chr8:101666570
| GRHL2 | | Autosomal dominant nonsyndromic hearing loss 28, Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome, not specified,
not provided, Corneal dystrophy, posterior polymorphous, 4 | Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:102570910
- GRCh38:
- Chr8:101558682
| GRHL2 | R183Q, R167Q | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome, Autosomal dominant nonsyndromic hearing loss 28, Corneal dystrophy, posterior polymorphous, 4,
not specified, not provided | Uncertain significance
(Oct 21, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:102643864
- GRCh38:
- Chr8:101631636
| GRHL2 | | Autosomal dominant nonsyndromic hearing loss 28 | Pathogenic
(Aug 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr8:102676706
- GRCh38:
- Chr8:101664478
| GRHL2 | V575M, V559M | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome, Autosomal dominant nonsyndromic hearing loss 28, Corneal dystrophy, posterior polymorphous, 4,
Inborn genetic diseases, not specified, not provided
| Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:102611388
- GRCh38:
- Chr8:101599160
| GRHL2 | | Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome, Autosomal dominant nonsyndromic hearing loss 28, Corneal dystrophy, posterior polymorphous, 4,
not specified, not provided | Benign/Likely benign
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr8:102656449-102656450
- GRCh38:
- Chr8:101644221-101644222
| GRHL2, LOC126860461 | R521fs, R537fs | Autosomal dominant nonsyndromic hearing loss 28 | Pathogenic
(Nov 1, 2002) | no assertion criteria provided |