Links from MedGen
Items: 6
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- ChrX:147026526-147026540
- GRCh38:
- ChrX:147945006-147945020
| FMR1 | | Fragile X-associated tremor/ataxia syndrome | Likely pathogenic
(Nov 22, 2022) | no assertion criteria provided |
| - GRCh37:
- ChrX:146993570-146993572
- GRCh38:
- ChrX:147912052-147912054
| FMR1, FRAXA, LOC107032825 | | Fragile X-associated tremor/ataxia syndrome, Premature ovarian failure 1 | Pathogenic
(Dec 30, 2017) | criteria provided, single submitter |
| - GRCh37:
- ChrX:146993715
- GRCh38:
- ChrX:147912197
| LOC107032825, FMR1 | | Fragile X-associated tremor/ataxia syndrome, Premature ovarian failure 1, Fragile X syndrome,
Inborn genetic diseases, not specified | Benign/Likely benign
(Aug 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:147011480
- GRCh38:
- ChrX:147929961
| FMR1 | A145S | Inborn genetic diseases, not specified, Fragile X syndrome,
Premature ovarian failure 1, Fragile X-associated tremor/ataxia syndrome | Benign
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:147010320
- GRCh38:
- ChrX:147928802
| FMR1 | | Inborn genetic diseases, Fragile X-associated tremor/ataxia syndrome, Premature ovarian failure 1,
Fragile X syndrome, not provided, not specified
| Benign
(Nov 3, 2021) | criteria provided, multiple submitters, no conflicts |
| | FMR1 | | Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Premature ovarian failure 1
| Pathogenic
(Jul 10, 2001) | no assertion criteria provided |