Links from MedGen
Items: 7
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:170695494
- GRCh38:
- Chr1:170726353
| PRRX1 | A184V | Agnathia-otocephaly complex | Uncertain significance
(Sep 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:170688942
- GRCh38:
- Chr1:170719801
| PRRX1 | L106P | Agnathia-otocephaly complex | Likely pathogenic
(Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:170688968
- GRCh38:
- Chr1:170719827
| PRRX1 | R115W | Agnathia-otocephaly complex | Uncertain significance
(Aug 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:170688887-170688888
- GRCh38:
- Chr1:170719746-170719747
| PRRX1 | R92fs | Agnathia-otocephaly complex | Pathogenic
(Apr 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:170688888
- GRCh38:
- Chr1:170719747
| PRRX1 | K90fs | Agnathia-otocephaly complex | Pathogenic
(Sep 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:170705280
- GRCh38:
- Chr1:170736139
| PRRX1 | A231P | Agnathia-otocephaly complex | Pathogenic
(Mar 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:170688963
- GRCh38:
- Chr1:170719822
| PRRX1 | F113S | Agnathia-otocephaly complex | Pathogenic
(Mar 1, 2011) | no assertion criteria provided |