| Atelosteogenesis Type 3 |
C3668942 |
FLNB
|
Causal
Pathogenic evidence from ClinVar
|
14991055 |
ClinVar |
| Atelosteogenesis type I |
1190 |
FLNB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Atelosteogenesis type III |
56305 |
FLNB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Atelosteogenesis, type 1 |
C0265283 |
FLNB
|
Causal
Pathogenic evidence from ClinVar
|
14991055 |
ClinVar |
|
FLNB-AS1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| Atelosteogenesis type 2 |
C1850554 |
SLC26A2
|
Causal
Pathogenic evidence from ClinVar
|
8528239, 8571951, 8931695, 9342225, 10465113, 10482955, 11241838, 11448940, 12525546, 12966518, 15294877, 15316973, 16642506, 18925670, 20219950, 20525296, 20592910, 21077202, 21077204, 21155763, 21922596, 25667404, 26375458 |
ClinVar |
| Atelosteogenesis type II |
56304 |
SLC26A2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |