Links from MedGen
Items: 7
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr12:89745700
- GRCh38:
- Chr12:89351923
| DUSP6 | C39* | Hypogonadotropic hypogonadism 19 with or without anosmia | Pathogenic
(Apr 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:89745648
- GRCh38:
- Chr12:89351871
| DUSP6 | A57T | Inborn genetic diseases, Hypogonadotropic hypogonadism 19 with or without anosmia | Uncertain significance
(Jan 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:89745477
- GRCh38:
- Chr12:89351700
| DUSP6 | V114L | Hypogonadotropic hypogonadism 19 with or without anosmia, not provided | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:89745588
- GRCh38:
- Chr12:89351811
| DUSP6 | F77I | Hypogonadotropic hypogonadism 19 with or without anosmia | Uncertain significance
(Mar 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:89743140
- GRCh38:
- Chr12:89349363
| DUSP6 | T346M, T200M | not provided | Likely benign
(Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:89744658
- GRCh38:
- Chr12:89350881
| DUSP6 | S182F | not provided | Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:89744637
- GRCh38:
- Chr12:89350860
| DUSP6 | N189S | not provided | Uncertain significance
(May 6, 2022) | criteria provided, single submitter |