Links from MedGen
Items: 5
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr6:139234084
- GRCh38:
- Chr6:138912947
| REPS1 | P506S, P570S, P596S, P597S | not provided, Neurodegeneration with brain iron accumulation 7 | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:139232424
- GRCh38:
- Chr6:138911287
| REPS1 | P685S, P686S, P595S, P659S | not provided, Neurodegeneration with brain iron accumulation 7 | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:139233946
- GRCh38:
- Chr6:138912809
| REPS1 | D642N, D643N, D552N, D616N | not provided, Neurodegeneration with brain iron accumulation 7 | Conflicting interpretations of pathogenicity
(Sep 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:139266774
- GRCh38:
- Chr6:138945637
| REPS1 | A113E | Neurodegeneration with brain iron accumulation | Pathogenic
(May 2, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:139268972
- GRCh38:
- Chr6:138947835
| REPS1 | V78L | Neurodegeneration with brain iron accumulation 7 | Pathogenic
(Mar 27, 2018) | no assertion criteria provided |