| Hereditary Hyperexplexia |
C1835614 |
ATAD1
|
Causal
Pathogenic evidence from ClinVar
|
29390050 |
ClinVar |
|
GLRA1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GLRB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SLC6A5
|
Causal
Pathogenic evidence from ClinVar
|
25480793 |
ClinVar |
|
GPHN
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| HYPEREKPLEXIA 4 |
C4693933 |
ATAD1
|
Causal
Pathogenic evidence from ClinVar
|
28180185, 29390050, 29659736 |
ClinVar |
| HYPEREKPLEXIA 1 |
C4551954 |
GLRA1
|
Causal
Pathogenic evidence from ClinVar
|
1352015, 7518444, 7611730, 7881416, 7925268, 7981700, 8298642, 8571969, 8733061, 9009272, 9067762, 9920650, 10514101, 11389164, 12169101, 15771552, 16236274, 19732286, 20631190, 24108130, 25036534, 25730860, 28122427, 28138086 |
ClinVar |
|
SLC6A5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| HYPEREKPLEXIA 2 |
C3553291 |
GLRB
|
Causal
Pathogenic evidence from ClinVar
|
11929858, 21391991, 23184146, 23238346 |
ClinVar |
| HYPEREKPLEXIA 3 |
C3553288 |
SLC6A5
|
Causal
Pathogenic evidence from ClinVar
|
16751771, 22700964, 22753417, 31370103 |
ClinVar |
