| Pfeiffer Syndrome |
C0220658 |
FGFR1
|
Causal
Pathogenic evidence from ClinVar
|
7795583, 7874169, 10861678, 10942429, 12627230, 14564217, 14613973, 16764984, 16957473, 23812909, 24127277, 24497711, 25251565, 25759380, 27502037, 28754744, 28825856 |
ClinVar |
|
FGFR2
|
Causal
Pathogenic evidence from ClinVar
|
7719333, 7719344, 7719345, 7795583, 7987400, 8644708, 8651276, 8696350, 9002682, 9150725, 9462761, 9502772, 9521581, 9693549, 9719378, 10394936, 10945669, 11173845, 11390973, 11781872, 12884424, 16501574, 16844695, 17694057, 17803937, 19186770, 22387015, 22664175, 23495007, 24127277, 24489893, 25759925, 25867380, 27604308, 28425981 |
ClinVar |
|
TWIST1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
15923834, 23354436 |
- |
| Pfeiffer syndrome type 1 |
93258 |
FGFR1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FGFR2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Pfeiffer syndrome type 2 |
93259 |
FGFR2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Pfeiffer syndrome type 3 |
93260 |
FGFR2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
