Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr19:10334597
- GRCh38:
- Chr19:10223921
| S1PR2 | R329C | Autosomal recessive nonsyndromic hearing loss 68 | Uncertain significance
(Feb 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:10334663
- GRCh38:
- Chr19:10223987
| S1PR2 | | not provided, Autosomal recessive nonsyndromic hearing loss 68, not specified
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:10335259
- GRCh38:
- Chr19:10224583
| S1PR2 | R108P | Autosomal recessive nonsyndromic hearing loss 68 | Pathogenic
(Oct 19, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr19:10335163
- GRCh38:
- Chr19:10224487
| S1PR2 | Y140C | Autosomal recessive nonsyndromic hearing loss 68 | Pathogenic
(Oct 19, 2017) | no assertion criteria provided |