Links from MedGen
Items: 12
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:76346920-76346921
- GRCh38:
- Chr1:75881235-75881236
| MSH4 | | Spermatogenic failure 2, Premature ovarian failure 20 | Benign
(Apr 11, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:76344711
- GRCh38:
- Chr1:75879026
| MSH4 | | Spermatogenic failure 2, Premature ovarian failure 20 | Benign
(Apr 11, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:76344705
- GRCh38:
- Chr1:75879020
| MSH4 | | Premature ovarian failure 20, Spermatogenic failure 2 | Benign
(Apr 11, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:76344011
- GRCh38:
- Chr1:75878326
| MSH4 | | Premature ovarian failure 20, Spermatogenic failure 2 | Benign
(Apr 11, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:76269460
- GRCh38:
- Chr1:75803775
| MSH4 | A97T | Premature ovarian failure 20, Spermatogenic failure 2 | Benign
(Apr 11, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:76355007
- GRCh38:
- Chr1:75889322
| MSH4 | D727fs | Spermatogenic failure 2 | Pathogenic
(Jul 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:76349349
- GRCh38:
- Chr1:75883664
| MSH4 | W650* | Spermatogenic failure 2 | Pathogenic
(Jul 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:76280811-76280818
- GRCh38:
- Chr1:75815126-75815133
| MSH4 | V269fs | Spermatogenic failure 2 | Pathogenic
(Jul 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:76344688
- GRCh38:
- Chr1:75879003
| MSH4 | | Spermatogenic failure 2 | Pathogenic
(Jul 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:76355048-76355051
- GRCh38:
- Chr1:75889363-75889366
| MSH4 | K741fs | Spermatogenic failure 2, Genetic non-acquired premature ovarian failure | Pathogenic
(Jul 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr1:76355026
- GRCh38:
- Chr1:75889341
| MSH4 | S733* | Non-obstructive azoospermia | Likely pathogenic
(Jan 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:76356415
- GRCh38:
- Chr1:75890730
| MSH4 | S754L | Non-obstructive azoospermia, Premature ovarian insufficiency, Oligozoospermia
| Pathogenic/Likely pathogenic
(May 24, 2021) | criteria provided, multiple submitters, no conflicts |