| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W |
C4225265 |
HARS1
|
Causal
Pathogenic evidence from ClinVar
|
22930593, 26072516, 29235198 |
ClinVar |
| Charcot-Marie-Tooth Disease |
C0007959 |
HINT1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HSPB1
|
Causal
Pathogenic evidence from ClinVar
|
15122254, 20178975, 20660910, 22031878, 25025039 |
ClinVar |
|
HSPB8
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
IGHMBP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KIF1B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
LMNA
|
Causal
Pathogenic evidence from ClinVar
|
18478590, 25025039 |
ClinVar |
|
LRSAM1
|
Causal
Pathogenic evidence from ClinVar
|
20865121 |
ClinVar |
|
MED25
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MFN2
|
Causal
Pathogenic evidence from ClinVar
|
16714318, 18425620, 21531138, 21840889, 25025039 |
ClinVar |
|
MORC2
|
Causal
Pathogenic evidence from ClinVar
|
28581500 |
ClinVar |
| Charcot-Marie-Tooth disease type 4G |
99953 |
HK1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Autosomal dominant Charcot-Marie-Tooth disease type 2F |
99940 |
HSPB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F |
C1847823 |
HSPB1
|
Causal
Pathogenic evidence from ClinVar
|
15122254, 17881652, 18325928, 18344398, 18832141, 20178975, 20870250, 21611841, 21892769, 22176143, 22206013, 22734906, 23643870, 23728742, 23948568, 23963299, 25429913, 25547330, 25965061, 26989944, 27816334, 27862672, 28144995, 28379183, 28595321, 28702508, 29381233 |
ClinVar |
| Autosomal dominant Charcot-Marie-Tooth disease type 2L |
99945 |
HSPB8
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder) |
C1837552 |
HSPB8
|
Causal
Pathogenic evidence from ClinVar
|
23389032 |
ClinVar |
| Charcot-Marie-Tooth disease type 2S |
443073 |
IGHMBP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S |
C4015349 |
IGHMBP2
|
Causal
Pathogenic evidence from ClinVar
|
234316, 11528396, 14506069, 14681881, 15269181, 15503272, 16765827, 17431882, 18802676, 19157874, 19158098, 22157136, 24388491, 25439726, 25454169, 25568292, 26257172, 26392352, 26709713, 27450922, 28202949 |
ClinVar |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type E |
93114 |
INF2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E |
C3280845 |
INF2
|
Causal
Pathogenic evidence from ClinVar
|
22187985, 24174593, 24750328, 25165188, 25676889, 27974406 |
ClinVar |
| Autosomal recessive intermediate Charcot-Marie-Tooth disease type B |
254334 |
KARS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B |
C3150897 |
KARS1
|
Causal
Pathogenic evidence from ClinVar
|
8812440, 20920668, 23768514, 25330800, 27604308, 28496994 |
ClinVar |
| Autosomal dominant Charcot-Marie-Tooth disease type 2A1 |
99946 |
KIF1B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Charcot-Marie-Tooth Disease, Axonal, Type 2a1 |
C1861678 |
KIF1B
|
Causal
Pathogenic evidence from ClinVar
|
11389829, 25802885 |
ClinVar |
| Charcot-Marie-Tooth disease type 1C |
101083 |
LITAF
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Charcot-Marie-Tooth disease, Type 1C |
C0270913 |
LITAF
|
Causal
Pathogenic evidence from ClinVar
|
12525712, 15122712, 15776429, 15786462, 16118794, 21896645, 23166352, 23576546, 24604904, 25058650, 28211240 |
ClinVar |
| Charcot-Marie-Tooth Disease, Type Ia (disorder) |
C0270911 |
LITAF
|
Causal
Pathogenic evidence from ClinVar
|
30958311 |
ClinVar |
|
LRSAM1
|
Causal
Pathogenic evidence from ClinVar
|
20865121 |
ClinVar |
|
MORC2
|
Causal
Pathogenic evidence from ClinVar
|
28581500 |
ClinVar |
| Charcot-Marie-Tooth disease type 2B1 |
98856 |
LMNA
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Charcot-Marie-Tooth disease, Type 2B1 |
C1854154 |
LMNA
|
Causal
Pathogenic evidence from ClinVar
|
11799477, 14607793, 17347251, 17536044, 18549403, 20186049, 27532257 |
ClinVar |
|
MED25
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Charcot-Marie-Tooth disease type 2P |
300319 |
LRSAM1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Charcot-Marie-Tooth disease, axonal, Type 2G |
C1837805 |
LRSAM1
|
Causal
Pathogenic evidence from ClinVar
|
22781092, 27686364 |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P |
C3280797 |
LRSAM1
|
Causal
Pathogenic evidence from ClinVar
|
20865121, 22012984, 24894446, 26752306, 26900582, 27164712, 27615052, 27686364, 28335037, 29341362 |
ClinVar |
| Charcot-Marie-Tooth disease, Type 4A, axonal form |
C1843183 |
LRSAM1
|
Causal
Pathogenic evidence from ClinVar
|
22781092, 27686364 |
ClinVar |
| Charcot-Marie-Tooth Disease, Type Ib |
C0270912 |
LRSAM1
|
Causal
Pathogenic evidence from ClinVar
|
20865121 |
ClinVar |
| Charcot-Marie-Tooth disease type 2B2 |
101101 |
MED25
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Charcot-Marie-Tooth disease, Type 2B2 |
C1854150 |
MED25
|
Causal
Pathogenic evidence from ClinVar
|
19290556 |
ClinVar |
| Autosomal dominant Charcot-Marie-Tooth disease type 2A2 |
99947 |
MFN2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A |
C4721887 |
MFN2
|
Causal
Pathogenic evidence from ClinVar
|
15064763, 15549395, 16762064, 18458227, 20008656, 20350294, 21326314, 21715711, 22206013, 22492563, 24053775, 24126688, 25025039, 26085578, 26114802, 26257172, 26378787, 27604308, 28251916, 28414270, 29358271, 30158064 |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B |
C4310725 |
MFN2
|
Causal
Pathogenic evidence from ClinVar
|
16835246, 18458227, 20350294, 21715711, 26085578, 26955893 |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder) |
C1836485 |
MFN2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2A |
C4310875 |
MFN2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| HMSN Type V |
C4721916 |
MFN2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Charcot-Marie-Tooth disease type 2T |
495274 |
MME
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T |
C4015635 |
MME
|
Causal
Pathogenic evidence from ClinVar
|
26991897, 27588448 |
ClinVar |
| MME-related autosomal dominant Charcot Marie Tooth disease type 2 |
497757 |
MME
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Autosomal dominant Charcot-Marie-Tooth disease type 2Z |
466768 |
MORC2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z |
C4225243 |
MORC2
|
Causal
Pathogenic evidence from ClinVar
|
26497905, 26659848, 26912637, 27105897, 27105987, 27794525, 28581500, 29440755 |
ClinVar |
