| Alagille Syndrome |
C0085280 |
JAG1
|
Causal
Pathogenic evidence from ClinVar
|
9207787, 9207788, 10220506, 12442286, 15712272, 21532573, 23881058, 26076142, 29530693 |
ClinVar |
|
NOTCH2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Alagille Syndrome 1 |
C1956125 |
JAG1
|
Causal
Pathogenic evidence from ClinVar
|
9207787, 9207788, 9585603, 10220506, 10533065, 11058898, 11139247, 11157803, 11180599, 12442286, 12497640, 15712272, 16575836, 20437614, 21532573, 22105858, 22487239, 22488849, 22759690, 23801938, 23881058, 24748328, 25525159, 25676721, 26076142, 26548814 |
ClinVar |
|
NOTCH2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Alagille Syndrome 2 |
C1857761 |
JAG1
|
Causal
Pathogenic evidence from ClinVar
|
9207787, 9207788, 21532573 |
ClinVar |
|
NOTCH2
|
Causal
Pathogenic evidence from ClinVar
|
16773578, 21934706, 22105858, 22173065, 22209762 |
ClinVar |
| Alagille syndrome due to 20p12 microdeletion |
261600 |
JAG1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Alagille syndrome due to a JAG1 point mutation |
261619 |
JAG1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Alagille syndrome due to a NOTCH2 point mutation |
261629 |
NOTCH2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
