| Actin-Accumulation Myopathy |
C3711389 |
ACTA1
|
Causal
Pathogenic evidence from ClinVar
|
2462510, 2617852, 10508519, 11166164, 11333380, 12921789, 15198992, 15226407, 15236405, 15336687, 15520409, 16427282, 16945536, 16945537, 17705262, 19562689, 20179953, 20303757, 21520333, 22442437, 23394784, 23650303, 24642510, 24787270, 24852243, 25214167, 25470062, 25938801, 26172852, 27447704, 27854218, 30266093 |
ClinVar |
| Childhood-onset nemaline myopathy |
171439 |
ACTA1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KBTBD13
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KLHL41
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NEB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TPM3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MYPN
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
TPM2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| Intermediate nemaline myopathy |
171433 |
ACTA1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KLHL41
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NEB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TPM3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Nemaline Myopathy, Childhood Onset |
C0546125 |
ACTA1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KBTBD13
|
Causal
Pathogenic evidence from ClinVar
|
21104864 |
ClinVar |
|
KLHL41
|
Causal
Pathogenic evidence from ClinVar
|
24268659 |
ClinVar |
|
NEB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TPM3
|
Causal
Pathogenic evidence from ClinVar
|
7704029 |
ClinVar |
|
MYPN
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
28017374 |
- |
|
TPM2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
23378224, 23413262 |
- |
| Typical nemaline myopathy |
171436 |
ACTA1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CFL2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KLHL41
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
LMOD3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NEB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TPM2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| Nemaline Myopathy 7 |
C1853154 |
CFL2
|
Causal
Pathogenic evidence from ClinVar
|
11422377, 17160903, 22343409, 22560515, 24598388, 24610938, 26996939, 27848944, 29457652 |
ClinVar |
| Nemaline myopathy 6 |
C1836472 |
KBTBD13
|
Causal
Pathogenic evidence from ClinVar
|
12805120, 21109227 |
ClinVar |
| NEMALINE MYOPATHY 8 |
C3809209 |
KLHL40
|
Causal
Pathogenic evidence from ClinVar
|
23746549, 24960163, 25721947, 26754003, 27528495, 27762439, 28973083 |
ClinVar |
| NEMALINE MYOPATHY 9 |
C3810384 |
KLHL41
|
Causal
Pathogenic evidence from ClinVar
|
24268659, 28826497, 28939701 |
ClinVar |
| NEMALINE MYOPATHY 10 |
C4015360 |
LMOD3
|
Causal
Pathogenic evidence from ClinVar
|
24960163, 25250574, 25774500, 26035871, 28815944, 30291184 |
ClinVar |
| Nemaline Myopathy 2 |
C1850569 |
NEB
|
Causal
Pathogenic evidence from ClinVar
|
9359044, 10051637, 12207937, 12207938, 12837582, 16902413, 16917880, 17525139, 19805734, 21520333, 21724397, 22367672, 22941678, 23572184, 24056153, 24725366, 24960163, 25079567, 25110572, 25205138, 25205148, 25356970, 25525159, 25949787, 26123491, 26197980, 26403434, 26578207, 26809612, 26809617, 26841830, 27105866, 27357428, 27854218, 27933661, 28132693, 30517146 |
ClinVar |
|
RIF1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
12207938, 19805734, 21520333, 24056153, 24725366, 25205138, 25356970, 26197980, 26403434, 26809612, 26809617, 27105866, 27357428 |
- |
| Amish nemaline myopathy |
98902 |
TNNT1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| NEMALINE MYOPATHY 5 |
C1854380 |
TNNT1
|
Causal
Pathogenic evidence from ClinVar
|
10952871, 12732643, 15665378, 24689076, 25430424, 27429059 |
ClinVar |
| Nemaline myopathy 1 |
C1836448 |
TPM3
|
Causal
Pathogenic evidence from ClinVar
|
7704029, 10587521, 10619715, 12467750, 17376686, 18300303, 19487656, 19553118, 19953533, 20554445, 21357678, 22749829, 22798622, 23886664, 24095155, 24239060, 24507666, 24642510, 24692096, 26307083, 27363342, 27854218 |
ClinVar |
| NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE |
C4479186 |
MYPN
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
28017374 |
- |
| Nemaline myopathy 4 |
C1836447 |
TPM2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
11738357, 17434307, 17846275, 19047562, 19345583, 23413262, 24692096, 27854218 |
- |
