Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr19:18717457-18717463
- GRCh38:
- Chr19:18606647-18606653
| CRLF1 | P2fs | Cold-induced sweating syndrome | Likely pathogenic
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18717466
- GRCh38:
- Chr19:18606656
| CRLF1 | M1V | Cold-induced sweating syndrome | Likely pathogenic
(Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18717414-18717436
- GRCh38:
- Chr19:18606604-18606626
| CRLF1 | Q11fs | Cold-induced sweating syndrome, Cold-induced sweating syndrome 1 | Pathogenic
(Jul 20, 2023) | criteria provided, multiple submitters, no conflicts |