| Autosomal dominant Charcot-Marie-Tooth disease type 2N |
228174 |
AARS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Charcot-Marie-Tooth Disease |
C0007959 |
AARS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CTDP1
|
Causal
Pathogenic evidence from ClinVar
|
16194727 |
ClinVar |
|
DNAJB2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNM2
|
Causal
Pathogenic evidence from ClinVar
|
25025039 |
ClinVar |
|
DYNC1H1
|
Causal
Pathogenic evidence from ClinVar
|
21820100, 25025039 |
ClinVar |
|
FIG4
|
Causal
Pathogenic evidence from ClinVar
|
17572665 |
ClinVar |
|
GDAP1
|
Causal
Pathogenic evidence from ClinVar
|
25614874 |
ClinVar |
|
GJB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Charcot-Marie-Tooth Disease, Axonal, Type 2n |
C2750090 |
AARS1
|
Causal
Pathogenic evidence from ClinVar
|
20045102, 22009580, 22206013, 24357685, 26032230, 26257172 |
ClinVar |
| Autosomal dominant Charcot-Marie-Tooth disease type 2DD |
521414 |
ATP1A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD |
C4747974 |
ATP1A1
|
Causal
Pathogenic evidence from ClinVar
|
29499166, 30388404 |
ClinVar |
| Autosomal dominant Charcot-Marie-Tooth disease type 2Q |
329258 |
DHTKD1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q |
C3554366 |
DHTKD1
|
Causal
Pathogenic evidence from ClinVar
|
23141294 |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T |
C4015635 |
DNAJB2
|
Causal
Pathogenic evidence from ClinVar
|
26633545 |
ClinVar |
| DNAJB2-related Charcot-Marie-Tooth disease type 2 |
443950 |
DNAJB2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Autosomal dominant Charcot-Marie-Tooth disease type 2M |
228179 |
DNM2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type B |
100044 |
DNM2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) |
C1847902 |
DNM2
|
Causal
Pathogenic evidence from ClinVar
|
15731758, 16227997, 17008356, 17636067, 17932957, 18394888, 18560793, 19130742, 19623537, 19932619, 20227276, 20529869, 20700106, 20817456, 20858595, 20927630, 21221624, 21762456, 22096584, 22369075, 22396310, 22613877, 23338057, 23394783, 23813975, 24016602, 24135484, 24465259, 25262827, 25492887, 25501959, 25957634, 26199319, 26273216, 26842864, 26908122, 27343996, 28676641 |
ClinVar |
| Autosomal dominant Charcot-Marie-Tooth disease type 2O |
284232 |
DYNC1H1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O |
C3280220 |
DYNC1H1
|
Causal
Pathogenic evidence from ClinVar
|
21820100, 22459677, 24307404, 25512093, 26392352, 26846447, 28554554 |
ClinVar |
| Charcot-Marie-Tooth disease type 1D |
101084 |
EGR2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Charcot-Marie-Tooth disease type 4 |
C4082197 |
EGR2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FGD4
|
Causal
Pathogenic evidence from ClinVar
|
17564959, 17564972 |
ClinVar |
|
FIG4
|
Causal
Pathogenic evidence from ClinVar
|
17572665, 18556664, 21705420, 23489662, 23623387, 24088667, 24878229, 25614874, 28251916 |
ClinVar |
|
GDAP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Charcot-Marie-Tooth disease type 4E |
99951 |
EGR2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Charcot-Marie-Tooth disease, Type 1D (disorder) |
C1843247 |
EGR2
|
Causal
Pathogenic evidence from ClinVar
|
9537424, 10502832, 10762521, 11239949, 12736090, 15241803, 15947997 |
ClinVar |
| Charcot-Marie-Tooth disease, Type 4E |
C4721437 |
EGR2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Dejerine-Sottas Disease (disorder) |
C0011195 |
EGR2
|
Causal
Pathogenic evidence from ClinVar
|
10371530, 11523566 |
ClinVar |
|
GJB1
|
Causal
Pathogenic evidence from ClinVar
|
15947997 |
ClinVar |
| Charcot-Marie-Tooth disease type 4H |
99954 |
FGD4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H |
C1836336 |
FGD4
|
Causal
Pathogenic evidence from ClinVar
|
15744041, 17564959, 17564972 |
ClinVar |
| Charcot-Marie-Tooth disease type 4J |
139515 |
FIG4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J |
C1970011 |
FIG4
|
Causal
Pathogenic evidence from ClinVar
|
17572665, 18556664, 19118816, 20630877, 21655088, 21705420, 23489662, 23623387, 23888880, 24878229 |
ClinVar |
| Charcot-Marie-Tooth Disease, Type Ia (disorder) |
C0270911 |
FIG4
|
Causal
Pathogenic evidence from ClinVar
|
17572665 |
ClinVar |
| Charcot-Marie-Tooth Disease, Type Ib |
C0270912 |
FIG4
|
Causal
Pathogenic evidence from ClinVar
|
17572665 |
ClinVar |
| Charcot-Marie-Tooth disease, Type 2D |
C1832274 |
GARS1
|
Causal
Pathogenic evidence from ClinVar
|
12690580, 17035524, 17101916, 17544401, 17595294, 17663003, 20169446, 21737751, 24604904, 24669931, 25168514, 26244500, 26503042, 26633545 |
ClinVar |
| Autosomal dominant Charcot-Marie-Tooth disease type 2K |
99944 |
GDAP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Autosomal recessive intermediate Charcot-Marie-Tooth disease type A |
217055 |
GDAP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Charcot-Marie-Tooth disease type 2H |
101102 |
GDAP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Charcot-Marie-Tooth disease type 4A |
99948 |
GDAP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K |
C1842983 |
GDAP1
|
Causal
Pathogenic evidence from ClinVar
|
2937239, 11743579, 15772096, 20685671, 22206013, 26525999, 28244113 |
ClinVar |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
C1842197 |
GDAP1
|
Causal
Pathogenic evidence from ClinVar
|
2937239, 11743579, 12499475, 12566285, 15772096, 16172208 |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) |
C1859198 |
GDAP1
|
Causal
Pathogenic evidence from ClinVar
|
2937239, 11743579, 11743580, 12566285, 12601710, 14561495, 15192818, 15377708, 15772096, 15805163, 16172208, 17433678, 18021315, 18421898, 18504680, 19500985, 19782751, 20685671, 20849849, 21199105, 21212451, 21692914, 21753178, 21840889, 21890626, 21965300, 22206013, 22971097, 23456260, 23466821, 23628762, 23963299, 25429913, 26392352, 26525999, 28220846, 28495047, 28751717, 29372391 |
ClinVar |
| Charcot-Marie-Tooth disease, Type 4A, axonal form |
C1843183 |
GDAP1
|
Causal
Pathogenic evidence from ClinVar
|
12868504, 16172208 |
ClinVar |
| Charcot-Marie-Tooth disease, X-linked, 1 |
C0393808 |
GJB1
|
Causal
Pathogenic evidence from ClinVar
|
7477983, 7580242, 7833935, 8004109, 8162049, 8266101, 8628473, 8698335, 8733054, 8737658, 8757034, 8807343, 8829637, 8889588, 8956046, 8990008, 9018031, 9099841, 9187667, 9272161, 9361298, 9364054, 9401007, 9452025, 9452099, 9469569, 9633821, 9818870, 9856562, 10071100, 10093067, 10220155, 10234007, 10586261, 10586284, 10732813, 10737979, 10873293, 10894999, 10923043, 10931843, 10938190, 11030070, 11140841, 11180613, 11325342, 11437164, 11438991, 11562788, 11571214, 11723288, 11835375, 11891346, 12185164, 12207932, 12325071, 12402337, 12460545, 12477701, 12497641, 12499506, 12536289, 12707076, 14627639, 15006706, 15241803, 15468313, 15852376, 16301507, 17353473, 19259128, 19335535, 23209285, 23827825, 24357685, 26257172, 26385972, 26392352, 27234031, 27564080, 28283593, 28492532, 28768847 |
ClinVar |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type F |
352670 |
GNB4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F |
C3554654 |
GNB4
|
Causal
Pathogenic evidence from ClinVar
|
23434117, 28642160 |
ClinVar |
| Autosomal dominant Charcot-Marie-Tooth disease type 2W |
488333 |
HARS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
