Links from MedGen
Items: 7
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr6:16326738
- GRCh38:
- Chr6:16326507
| ATXN1 | A602S | Spinocerebellar ataxia type 1 | Uncertain significance
(Aug 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:16327933
- GRCh38:
- Chr6:16327702
| ATXN1, LOC108663993 | Q203H | Spinocerebellar ataxia type 1, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Dec 6, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:16327864-16327865
- GRCh38:
- Chr6:16327633-16327634
| ATXN1, LOC108663993 | | Spinocerebellar ataxia type 1 | Benign
(Jul 19, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:16306858
- GRCh38:
- Chr6:16306627
| ATXN1 | A717V | Spinocerebellar ataxia type 1, not specified | Likely benign
(Oct 30, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:16327915-16327916
- GRCh38:
- Chr6:16327684-16327685
| ATXN1, LOC108663993 | | Spinocerebellar ataxia type 1, not specified | Benign/Likely benign
(May 17, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:16327921
- GRCh38:
- Chr6:16327690
| LOC108663993, ATXN1 | Q207H | Spinocerebellar ataxia type 1, not specified | Conflicting interpretations of pathogenicity
(Jan 1, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:16327918-16327953
- GRCh38:
- Chr6:16327687-16327722
| ATXN1, LOC108663993 | | Spinocerebellar ataxia type 1 | Pathogenic
(Mar 1, 2002) | no assertion criteria provided |