| Congenital myasthenic syndrome ib |
C1850792 |
AGRN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Congenital Myasthenic Syndromes, Postsynaptic |
C0751883 |
AGRN
|
Causal
Pathogenic evidence from ClinVar
|
19631309, 22205389 |
ClinVar |
|
ALG14
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ALG2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHRNB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHRND
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Congenital Myasthenic Syndromes, Presynaptic |
C0751884 |
AGRN
|
Causal
Pathogenic evidence from ClinVar
|
19631309, 22205389 |
ClinVar |
|
ALG14
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ALG2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHRNB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHRND
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MYASTHENIC SYNDROME, CONGENITAL, 8 |
C3808739 |
AGRN
|
Causal
Pathogenic evidence from ClinVar
|
19631309, 22205389, 24951643 |
ClinVar |
| Myasthenic Syndromes, Congenital |
C0751882 |
AGRN
|
Causal
Pathogenic evidence from ClinVar
|
19631309, 22205389, 24951643 |
ClinVar |
|
ALG14
|
Causal
Pathogenic evidence from ClinVar
|
23404334 |
ClinVar |
|
ALG2
|
Causal
Pathogenic evidence from ClinVar
|
23404334 |
ClinVar |
|
CHAT
|
Causal
Pathogenic evidence from ClinVar
|
21786365, 26080897 |
ClinVar |
|
CHRNB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHRND
|
Causal
Pathogenic evidence from ClinVar
|
11782989 |
ClinVar |
|
CHRNE
|
Causal
Pathogenic evidence from ClinVar
|
9158150, 9708546, 10534268, 15322984, 15951177, 20562457, 21150643, 27717316, 29054425, 29383513 |
ClinVar |
| Myasthenic Syndromes, Congenital, Slow Channel |
C0751885 |
AGRN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ALG14
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ALG2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHRNB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHRND
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Postsynaptic congenital myasthenic syndromes |
98913 |
AGRN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHRNA1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHRNB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHRND
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHRNE
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Presynaptic congenital myasthenic syndromes |
98914 |
AGRN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHAT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MYASTHENIC SYNDROME, CONGENITAL, 15 |
C4015596 |
ALG14
|
Causal
Pathogenic evidence from ClinVar
|
23404334, 27604308, 28733338 |
ClinVar |
| MYASTHENIC SYNDROME, CONGENITAL, 14 |
C4015597 |
ALG2
|
Causal
Pathogenic evidence from ClinVar
|
12684507, 23404334, 27604308 |
ClinVar |
| MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC |
C4310654 |
CHAT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL |
C4084823 |
CHRNA1
|
Causal
Pathogenic evidence from ClinVar
|
7619526, 8872460, 9158151, 9221765, 15079006, 16685696 |
ClinVar |
|
CHRNB1
|
Causal
Pathogenic evidence from ClinVar
|
616314 |
ClinVar |
|
CHRND
|
Causal
Pathogenic evidence from ClinVar
|
11435464 |
ClinVar |
|
CHRNE
|
Causal
Pathogenic evidence from ClinVar
|
21175599 |
ClinVar |
| MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL |
C4225405 |
CHRNA1
|
Causal
Pathogenic evidence from ClinVar
|
10195214, 12588888, 15079006 |
ClinVar |
|
CHRNE
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Myasthenic Syndrome, Congenital, Fast-Channel |
C1837122 |
CHRNA1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHRND
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CHRNE
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Myasthenic syndrome, congenital, postsynaptic slow-channel |
C2931107 |
CHRNA1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL |
C4225374 |
CHRNB1
|
Causal
Pathogenic evidence from ClinVar
|
616314, 8651643, 8872460, 20562457, 27375219, 27391121 |
ClinVar |
| MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL |
C4225372 |
CHRND
|
Causal
Pathogenic evidence from ClinVar
|
8872460, 11435464, 11782989, 16916845 |
ClinVar |
| MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL |
C4225371 |
CHRND
|
Causal
Pathogenic evidence from ClinVar
|
11435464, 12499478, 16916845, 18398509 |
ClinVar |
| MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL |
C4225413 |
CHRNE
|
Causal
Pathogenic evidence from ClinVar
|
7531341, 7538206, 8755487, 8872460, 9158150, 12141316, 12417530, 14592868, 21175599, 21822932, 22678886, 27375219, 27779167 |
ClinVar |
| MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL |
C4225369 |
CHRNE
|
Causal
Pathogenic evidence from ClinVar
|
8755487, 10962020, 21175599, 22592360 |
ClinVar |
| MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY |
C1837091 |
CHRNE
|
Causal
Pathogenic evidence from ClinVar
|
9158150, 9668239, 10514102, 16550914, 21175599 |
ClinVar |
