Links from MedGen
Items: 8
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr10:103530315
- GRCh38:
- Chr10:101770558
| FGF8 | A65V, A140V, A129V, A158V, A169V | Cyclopia | Likely benign
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:121684663
- GRCh38:
- Chr2:120927087
| GLI2 | | Cyclopia, not provided | Benign
(May 28, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:100638890
- GRCh38:
- Chr13:99986636
| ZIC2 | | not specified | Uncertain significance
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:125830970
- GRCh38:
- Chr11:125961075
| CDON | I1221N, I1244N | not specified, not provided, Cyclopia,
Holoprosencephaly 11 | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:121744056
- GRCh38:
- Chr2:120986480
| GLI2 | R720H, R703H, R578H | Holoprosencephaly 9, not provided, not specified,
Cyclopia, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
| Conflicting interpretations of pathogenicity
(Aug 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:89560919
- GRCh38:
- Chr9:86946004
| GAS1 | G259E | Cyclopia | Uncertain significance
(Feb 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr9:89561096
- GRCh38:
- Chr9:86946181
| GAS1 | T200R | Cyclopia | Uncertain significance
(Feb 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr10:103530135
- GRCh38:
- Chr10:101770378
| FGF8 | T229M, T189M, T200M, T218M, T125M | Cyclopia, not provided | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |