MCID: CHR139
MIFTS: 23

Charcot-Marie-Tooth Disease Type 2c

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease Type 2c

MalaCards integrated aliases for Charcot-Marie-Tooth Disease Type 2c:

Name: Charcot-Marie-Tooth Disease Type 2c 53 29 6
Charcot-Marie-Tooth Disease, Type 2c 40 72
Charcot-Marie-Tooth Disease, Axonal, Type 2c 53
Hereditary Motor and Sensory Neuropathy 2 C 53
Charcot Marie Tooth Disease Type 2c 53
Hmsn 2 C 53
Cmt 2c 53

Classifications:



External Ids:

UMLS 72 C2079540

Summaries for Charcot-Marie-Tooth Disease Type 2c

MalaCards based summary : Charcot-Marie-Tooth Disease Type 2c, also known as charcot-marie-tooth disease, type 2c, is related to hereditary motor and sensory neuropathy, type iic and charcot-marie-tooth disease, and has symptoms including stridor and urgency of micturition. An important gene associated with Charcot-Marie-Tooth Disease Type 2c is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4).

Related Diseases for Charcot-Marie-Tooth Disease Type 2c

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate a
Charcot-Marie-Tooth Disease, Type 4h Charcot-Marie-Tooth Disease, Type 4j
Charcot-Marie-Tooth Disease, Recessive Intermediate B Charcot-Marie-Tooth Disease, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
Charcot-Marie-Tooth Disease Type X Charcot-Marie-Tooth Disease Intermediate Type
Charcot-Marie-Tooth Disease Type 5 Charcot-Marie-Tooth Disease Type 7
Charcot-Marie-Tooth Disease Type 2a2 Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease Type 2a Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Disease Type 2k Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Disease Type 2n Charcot-Marie-Tooth Disease Type 2o
Charcot-Marie-Tooth Disease Type 2q Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Charcot-Marie-Tooth Disease Type 2c via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 11, show less)
# Related Disease Score Top Affiliating Genes
1 hereditary motor and sensory neuropathy, type iic 12.7
2 charcot-marie-tooth disease 10.7
3 tooth disease 10.7
4 muscular atrophy 10.5
5 trpv4-associated disorders 10.5
6 skeletal dysplasias 10.5
7 scapuloperoneal spinal muscular atrophy 10.4
8 spondyloepimetaphyseal dysplasia, strudwick type 10.4
9 spondylometaphyseal dysplasia, kozlowski type 10.4
10 neuronopathy, distal hereditary motor, type viii 10.4
11 charcot-marie-tooth disease type 2a 10.4

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease Type 2c:



Diseases related to Charcot-Marie-Tooth Disease Type 2c

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease Type 2c

UMLS symptoms related to Charcot-Marie-Tooth Disease Type 2c:


stridor, urgency of micturition

Drugs & Therapeutics for Charcot-Marie-Tooth Disease Type 2c

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease Type 2c

Genetic Tests for Charcot-Marie-Tooth Disease Type 2c

Genetic tests related to Charcot-Marie-Tooth Disease Type 2c:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2c 29 TRPV4

Anatomical Context for Charcot-Marie-Tooth Disease Type 2c

Publications for Charcot-Marie-Tooth Disease Type 2c

Articles related to Charcot-Marie-Tooth Disease Type 2c:

(showing 11, show less)
# Title Authors PMID Year
1
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant. 38
31191204 2019
2
Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy. 38
27066566 2015
3
Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation. 38
26048687 2015
4
Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation. 38
26162716 2015
5
TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P₂. 38
25256292 2014
6
TRPV4-Associated Disorders 38
24830047 2014
7
TRPV4-mediated channelopathies. 38
20676052 2010
8
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. 38
20037587 2010
9
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. 38
20037586 2010
10
Channelopathies converge on TRPV4. 38
20104247 2010
11
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. 38
12062259 2002

Variations for Charcot-Marie-Tooth Disease Type 2c

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease Type 2c:

6 (showing 187, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TRPV4 NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile) single nucleotide variant Pathogenic rs121912633 12:110230201-110230201 12:109792396-109792396
2 TRPV4 NM_021625.4(TRPV4): c.1781G> A (p.Arg594His) single nucleotide variant Pathogenic rs77975504 12:110230500-110230500 12:109792695-109792695
3 TRPV4 NM_021625.4(TRPV4): c.2396C> T (p.Pro799Leu) single nucleotide variant Pathogenic rs121912637 12:110222183-110222183 12:109784378-109784378
4 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 12:110236628-110236628 12:109798823-109798823
5 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 12:110238471-110238471 12:109800666-109800666
6 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 12:110231365-110231365 12:109793560-109793560
7 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 12:110240814-110240814 12:109803009-109803009
8 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 12:110236625-110236625 12:109798820-109798820
9 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 12:110236624-110236624 12:109798819-109798819
10 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 12:110246103-110246103 12:109808298-109808298
11 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 12:110238470-110238470 12:109800665-109800665
12 TRPV4 NM_021625.4(TRPV4): c.710G> T (p.Arg237Leu) single nucleotide variant Likely pathogenic rs1289139464 12:110240798-110240798 12:109802993-109802993
13 TRPV4 NM_021625.4(TRPV4): c.832G> A (p.Glu278Lys) single nucleotide variant Likely pathogenic rs267607148 12:110238444-110238444 12:109800639-109800639
14 TRPV4 NM_021625.4(TRPV4): c.2304G> C (p.Ser768=) single nucleotide variant Conflicting interpretations of pathogenicity rs138986228 12:110224547-110224547 12:109786742-109786742
15 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 12:110238507-110238507 12:109800702-109800702
16 TRPV4 NM_021625.4(TRPV4): c.205A> C (p.Met69Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200199102 12:110252397-110252397 12:109814592-109814592
17 TRPV4 NM_021625.4(TRPV4): c.651G> A (p.Ala217=) single nucleotide variant Conflicting interpretations of pathogenicity rs371280831 12:110240857-110240857 12:109803052-109803052
18 TRPV4 NM_021625.4(TRPV4): c.944G> A (p.Arg315Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs1064795696 12:110236627-110236627 12:109798822-109798822
19 TRPV4 NM_021625.4(TRPV4): c.1656del (p.Tyr553fs) deletion Conflicting interpretations of pathogenicity rs541606391 12:110231334-110231334 12:109793529-109793529
20 TRPV4 NM_021625.4(TRPV4): c.402C> A (p.Ser134Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201241092 12:110246258-110246258 12:109808453-109808453
21 TRPV4 NM_021625.4(TRPV4): c.1491+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201815805 12:110232124-110232124 12:109794319-109794319
22 TRPV4 NM_021625.4(TRPV4): c.1093G> A (p.Val365Met) single nucleotide variant Conflicting interpretations of pathogenicity rs570675468 12:110236478-110236478 12:109798673-109798673
23 TRPV4 NM_021625.4(TRPV4): c.37G> T (p.Gly13Trp) single nucleotide variant Uncertain significance rs763302555 12:110252565-110252565 12:109814760-109814760
24 TRPV4 NM_021625.4(TRPV4): c.37G> A (p.Gly13Arg) single nucleotide variant Uncertain significance rs763302555 12:110252565-110252565 12:109814760-109814760
25 TRPV4 NM_021625.4(TRPV4): c.2452C> T (p.Arg818Cys) single nucleotide variant Uncertain significance rs776544875 12:110222127-110222127 12:109784322-109784322
26 TRPV4 NM_021625.4(TRPV4): c.1627C> T (p.Leu543Phe) single nucleotide variant Uncertain significance rs779325064 12:110231363-110231363 12:109793558-109793558
27 TRPV4 NM_021625.4(TRPV4): c.159T> A (p.Asp53Glu) single nucleotide variant Uncertain significance rs765021989 12:110252443-110252443 12:109814638-109814638
28 TRPV4 NM_021625.4(TRPV4): c.1390C> T (p.Arg464Cys) single nucleotide variant Uncertain significance rs373049874 12:110232235-110232235 12:109794430-109794430
29 TRPV4 NM_021625.4(TRPV4): c.1139C> T (p.Thr380Met) single nucleotide variant Uncertain significance rs764949536 12:110236432-110236432 12:109798627-109798627
30 TRPV4 NM_021625.4(TRPV4): c.956C> T (p.Ser319Leu) single nucleotide variant Uncertain significance rs377518118 12:110236615-110236615 12:109798810-109798810
31 TRPV4 NM_021625.4(TRPV4): c.479G> A (p.Arg160Gln) single nucleotide variant Uncertain significance rs139300843 12:110246181-110246181 12:109808376-109808376
32 TRPV4 NM_021625.4(TRPV4): c.569C> T (p.Thr190Met) single nucleotide variant Uncertain significance rs1031096826 12:110240939-110240939 12:109803134-109803134
33 TRPV4 NM_021625.4(TRPV4): c.25C> T (p.Arg9Cys) single nucleotide variant Uncertain significance rs758741868 12:110252577-110252577 12:109814772-109814772
34 TRPV4 NM_021625.4(TRPV4): c.1658+5G> A single nucleotide variant Uncertain significance rs756714651 12:110231327-110231327 12:109793522-109793522
35 TRPV4 NM_021625.4(TRPV4): c.847T> A (p.Tyr283Asn) single nucleotide variant Uncertain significance rs200210023 12:110238429-110238429 12:109800624-109800624
36 TRPV4 NM_021625.4(TRPV4): c.649G> A (p.Ala217Thr) single nucleotide variant Uncertain significance rs187864727 12:110240859-110240859 12:109803054-109803054
37 TRPV4 NM_021625.4(TRPV4): c.2584del (p.Arg862fs) deletion Uncertain significance rs746597270 12:110221458-110221458 12:109783653-109783653
38 TRPV4 NM_021625.4(TRPV4): c.2440G> T (p.Val814Leu) single nucleotide variant Uncertain significance rs202075458 12:110222139-110222139 12:109784334-109784334
39 TRPV4 NM_021625.4(TRPV4): c.1957A> G (p.Thr653Ala) single nucleotide variant Uncertain significance rs769927678 12:110226456-110226456 12:109788651-109788651
40 TRPV4 NM_021625.4(TRPV4): c.1493C> T (p.Pro498Leu) single nucleotide variant Uncertain significance rs1051494811 12:110231826-110231826 12:109794021-109794021
41 TRPV4 NM_021625.4(TRPV4): c.1976C> T (p.Ser659Leu) single nucleotide variant Uncertain significance rs779715512 12:110226437-110226437 12:109788632-109788632
42 TRPV4 NM_021625.4(TRPV4): c.656G> A (p.Arg219His) single nucleotide variant Uncertain significance rs767331924 12:110240852-110240852 12:109803047-109803047
43 TRPV4 NM_021625.4(TRPV4): c.646A> G (p.Ile216Val) single nucleotide variant Uncertain significance rs1318320106 12:110240862-110240862 12:109803057-109803057
44 TRPV4 NM_021625.4(TRPV4): c.26G> A (p.Arg9His) single nucleotide variant Uncertain significance rs776163103 12:110252576-110252576 12:109814771-109814771
45 TRPV4 NM_021625.4(TRPV4): c.1957A> C (p.Thr653Pro) single nucleotide variant Uncertain significance rs769927678 12:110226456-110226456 12:109788651-109788651
46 TRPV4 NM_021625.4(TRPV4): c.1006C> T (p.Arg336Cys) single nucleotide variant Uncertain significance rs781229110 12:110236565-110236565 12:109798760-109798760
47 TRPV4 NM_021625.4(TRPV4): c.711A> G (p.Arg237=) single nucleotide variant Uncertain significance rs927188562 12:110240797-110240797 12:109802992-109802992
48 TRPV4 NM_021625.4(TRPV4): c.701T> C (p.Ile234Thr) single nucleotide variant Uncertain significance rs1555208627 12:110240807-110240807 12:109803002-109803002
49 TRPV4 NM_021625.4(TRPV4): c.2425G> A (p.Gly809Ser) single nucleotide variant Uncertain significance rs375851168 12:110222154-110222154 12:109784349-109784349
50 TRPV4 NM_021625.4(TRPV4): c.655C> T (p.Arg219Cys) single nucleotide variant Uncertain significance rs754023659 12:110240853-110240853 12:109803048-109803048
51 TRPV4 NM_021625.4(TRPV4): c.523A> G (p.Thr175Ala) single nucleotide variant Uncertain significance rs146304351 12:110246137-110246137 12:109808332-109808332
52 TRPV4 NM_021625.4(TRPV4): c.472G> A (p.Val158Met) single nucleotide variant Uncertain significance rs746905653 12:110246188-110246188 12:109808383-109808383
53 TRPV4 NM_021625.4(TRPV4): c.1577T> G (p.Phe526Cys) single nucleotide variant Uncertain significance rs1329377960 12:110231742-110231742 12:109793937-109793937
54 TRPV4 NM_021625.4(TRPV4): c.1528C> T (p.Arg510Trp) single nucleotide variant Uncertain significance rs918220829 12:110231791-110231791 12:109793986-109793986
55 TRPV4 NM_021625.4(TRPV4): c.958C> T (p.Arg320Ter) single nucleotide variant Uncertain significance rs142902080 12:110236613-110236613 12:109798808-109798808
56 TRPV4 NM_021625.4(TRPV4): c.1175G> C (p.Arg392Pro) single nucleotide variant Uncertain significance rs770364304 12:110234487-110234487 12:109796682-109796682
57 TRPV4 NM_021625.4(TRPV4): c.137C> T (p.Ser46Phe) single nucleotide variant Uncertain significance rs202066574 12:110252465-110252465 12:109814660-109814660
58 TRPV4 NM_021625.4(TRPV4): c.709C> T (p.Arg237Ter) single nucleotide variant Uncertain significance rs746368269 12:110240799-110240799 12:109802994-109802994
59 TRPV4 NM_021625.4(TRPV4): c.1376T> G (p.Leu459Arg) single nucleotide variant Uncertain significance rs201132615 12:110232249-110232249 12:109794444-109794444
60 TRPV4 NM_021625.4(TRPV4): c.616C> T (p.Arg206Cys) single nucleotide variant Uncertain significance rs200497189 12:110240892-110240892 12:109803087-109803087
61 TRPV4 NM_021625.4(TRPV4): c.395C> T (p.Pro132Leu) single nucleotide variant Uncertain significance rs779371027 12:110246265-110246265 12:109808460-109808460
62 TRPV4 NM_021625.4(TRPV4): c.2246C> G (p.Pro749Arg) single nucleotide variant Uncertain significance rs1555205050 12:110224605-110224605 12:109786800-109786800
63 TRPV4 NM_021625.4(TRPV4): c.2320C> T (p.Arg774Cys) single nucleotide variant Uncertain significance rs145102919 12:110224531-110224531 12:109786726-109786726
64 TRPV4 NM_021625.4(TRPV4): c.1439G> T (p.Cys480Phe) single nucleotide variant Uncertain significance rs943346163 12:110232186-110232186 12:109794381-109794381
65 TRPV4 NM_021625.4(TRPV4): c.1328T> C (p.Ile443Thr) single nucleotide variant Uncertain significance rs1032807952 12:110234334-110234334 12:109796529-109796529
66 TRPV4 NM_021625.4(TRPV4): c.1342G> A (p.Glu448Lys) single nucleotide variant Uncertain significance rs373103155 12:110232283-110232283 12:109794478-109794478
67 TRPV4 NM_021625.4(TRPV4): c.1115C> T (p.Ser372Leu) single nucleotide variant Uncertain significance rs1479394096 12:110236456-110236456 12:109798651-109798651
68 TRPV4 NM_021625.4(TRPV4): c.1337G> A (p.Arg446His) single nucleotide variant Uncertain significance rs143502097 12:110232288-110232288 12:109794483-109794483
69 TRPV4 NM_021625.4(TRPV4): c.1199G> A (p.Arg400Gln) single nucleotide variant Uncertain significance rs926925253 12:110234463-110234463 12:109796658-109796658
70 TRPV4 NM_021625.4(TRPV4): c.940A> G (p.Met314Val) single nucleotide variant Uncertain significance rs151101009 12:110236631-110236631 12:109798826-109798826
71 TRPV4 NM_021625.4(TRPV4): c.670_671delinsCA (p.Arg224Gln) indel Uncertain significance rs1555208643 12:110240837-110240838 12:109803032-109803033
72 TRPV4 NM_021625.4(TRPV4): c.167G> A (p.Arg56His) single nucleotide variant Uncertain significance rs767169716 12:110252435-110252435 12:109814630-109814630
73 TRPV4 NM_021625.4(TRPV4): c.2570A> G (p.Gln857Arg) single nucleotide variant Uncertain significance rs1262126429 12:110221472-110221472 12:109783667-109783667
74 TRPV4 NM_021625.4(TRPV4): c.712+5G> A single nucleotide variant Uncertain significance rs372251308 12:110240791-110240791 12:109802986-109802986
75 TRPV4 NM_021625.4(TRPV4): c.1450A> G (p.Ile484Val) single nucleotide variant Uncertain significance rs1555206591 12:110232175-110232175 12:109794370-109794370
76 TRPV4 NM_021625.4(TRPV4): c.602A> G (p.Asn201Ser) single nucleotide variant Uncertain significance rs1555208698 12:110240906-110240906 12:109803101-109803101
77 TRPV4 NM_021625.4(TRPV4): c.331G> A (p.Gly111Ser) single nucleotide variant Uncertain significance rs768721947 12:110252271-110252271 12:109814466-109814466
78 TRPV4 NM_021625.4(TRPV4): c.153G> A (p.Pro51=) single nucleotide variant Uncertain significance rs577306678 12:110252449-110252449 12:109814644-109814644
79 TRPV4 NM_021625.4(TRPV4): c.1491+5G> A single nucleotide variant Uncertain significance 12:110232129-110232129 12:109794324-109794324
80 TRPV4 NM_021625.4(TRPV4): c.686C> T (p.Ser229Leu) single nucleotide variant Uncertain significance 12:110240822-110240822 12:109803017-109803017
81 TRPV4 NM_021625.4(TRPV4): c.184G> A (p.Asp62Asn) single nucleotide variant Uncertain significance 12:110252418-110252418 12:109814613-109814613
82 TRPV4 NM_021625.4(TRPV4): c.1729G> A (p.Val577Met) single nucleotide variant Uncertain significance 12:110230552-110230552 12:109792747-109792747
83 TRPV4 NM_021625.4(TRPV4): c.1522T> C (p.Tyr508His) single nucleotide variant Uncertain significance 12:110231797-110231797 12:109793992-109793992
84 TRPV4 NM_021625.4(TRPV4): c.935C> T (p.Ala312Val) single nucleotide variant Uncertain significance 12:110236636-110236636 12:109798831-109798831
85 TRPV4 NM_021625.4(TRPV4): c.2456G> A (p.Arg819Lys) single nucleotide variant Uncertain significance 12:110222123-110222123 12:109784318-109784318
86 TRPV4 NM_021625.4(TRPV4): c.2489T> C (p.Val830Ala) single nucleotide variant Uncertain significance 12:110221553-110221553 12:109783748-109783748
87 TRPV4 NM_021625.4(TRPV4): c.2482C> A (p.Arg828Ser) single nucleotide variant Uncertain significance 12:110221560-110221560 12:109783755-109783755
88 TRPV4 NM_021625.4(TRPV4): c.1392C> T (p.Arg464=) single nucleotide variant Uncertain significance 12:110232233-110232233 12:109794428-109794428
89 TRPV4 NM_021625.4(TRPV4): c.556C> T (p.Arg186Ter) single nucleotide variant Uncertain significance 12:110246104-110246104 12:109808299-109808299
90 TRPV4 NM_021625.4(TRPV4): c.1825-8G> A single nucleotide variant Uncertain significance 12:110230242-110230242 12:109792437-109792437
91 TRPV4 NM_021625.4(TRPV4): c.2495T> G (p.Leu832Arg) single nucleotide variant Uncertain significance 12:110221547-110221547 12:109783742-109783742
92 TRPV4 NM_021625.4(TRPV4): c.2432C> T (p.Ser811Leu) single nucleotide variant Uncertain significance 12:110222147-110222147 12:109784342-109784342
93 TRPV4 NM_021625.4(TRPV4): c.2162C> G (p.Thr721Arg) single nucleotide variant Uncertain significance 12:110226251-110226251 12:109788446-109788446
94 TRPV4 NM_021625.4(TRPV4): c.1584C> T (p.Asn528=) single nucleotide variant Uncertain significance 12:110231735-110231735 12:109793930-109793930
95 TRPV4 NM_021625.4(TRPV4): c.1514C> T (p.Thr505Met) single nucleotide variant Uncertain significance 12:110231805-110231805 12:109794000-109794000
96 TRPV4 NM_021625.4(TRPV4): c.1465G> A (p.Ala489Thr) single nucleotide variant Uncertain significance 12:110232160-110232160 12:109794355-109794355
97 TRPV4 NM_021625.4(TRPV4): c.915G> A (p.Thr305=) single nucleotide variant Uncertain significance 12:110236656-110236656 12:109798851-109798851
98 TRPV4 NM_021625.4(TRPV4): c.746G> A (p.Arg249His) single nucleotide variant Uncertain significance 12:110238530-110238530 12:109800725-109800725
99 TRPV4 NM_021625.4(TRPV4): c.229A> G (p.Lys77Glu) single nucleotide variant Uncertain significance 12:110252373-110252373 12:109814568-109814568
100 TRPV4 NM_021625.4(TRPV4): c.1445T> C (p.Met482Thr) single nucleotide variant Uncertain significance 12:110232180-110232180 12:109794375-109794375
101 TRPV4 NM_021625.4(TRPV4): c.1706C> G (p.Ala569Gly) single nucleotide variant Uncertain significance 12:110230575-110230575 12:109792770-109792770
102 TRPV4 NM_021625.4(TRPV4): c.2560G> C (p.Asp854His) single nucleotide variant Uncertain significance 12:110221482-110221482 12:109783677-109783677
103 TRPV4 NM_021625.4(TRPV4): c.2521G> A (p.Val841Met) single nucleotide variant Uncertain significance 12:110221521-110221521 12:109783716-109783716
104 TRPV4 NM_021625.4(TRPV4): c.2499C> A (p.Asn833Lys) single nucleotide variant Uncertain significance 12:110221543-110221543 12:109783738-109783738
105 TRPV4 NM_021625.4(TRPV4): c.2447G> A (p.Arg816His) single nucleotide variant Uncertain significance 12:110222132-110222132 12:109784327-109784327
106 TRPV4 NM_021625.4(TRPV4): c.2290G> T (p.Val764Leu) single nucleotide variant Uncertain significance 12:110224561-110224561 12:109786756-109786756
107 TRPV4 NM_021625.4(TRPV4): c.2211G> C (p.Trp737Cys) single nucleotide variant Uncertain significance 12:110224640-110224640 12:109786835-109786835
108 TRPV4 NM_021625.4(TRPV4): c.2077G> A (p.Val693Met) single nucleotide variant Uncertain significance 12:110226336-110226336 12:109788531-109788531
109 TRPV4 NM_021625.4(TRPV4): c.1989C> G (p.Ser663Arg) single nucleotide variant Uncertain significance 12:110226424-110226424 12:109788619-109788619
110 TRPV4 NM_021625.4(TRPV4): c.1981C> T (p.Arg661Cys) single nucleotide variant Uncertain significance 12:110226432-110226432 12:109788627-109788627
111 TRPV4 NM_021625.4(TRPV4): c.1543G> T (p.Val515Phe) single nucleotide variant Uncertain significance 12:110231776-110231776 12:109793971-109793971
112 TRPV4 NM_021625.4(TRPV4): c.1505A> T (p.Tyr502Phe) single nucleotide variant Uncertain significance 12:110231814-110231814 12:109794009-109794009
113 TRPV4 NM_021625.4(TRPV4): c.1277C> T (p.Thr426Met) single nucleotide variant Uncertain significance 12:110234385-110234385 12:109796580-109796580
114 TRPV4 NM_021625.4(TRPV4): c.1076_1093del (p.Asp359_Ala364del) deletion Uncertain significance 12:110236478-110236495 12:109798676-109798693
115 TRPV4 NM_021625.4(TRPV4): c.1039G> T (p.Asp347Tyr) single nucleotide variant Uncertain significance 12:110236532-110236532 12:109798727-109798727
116 TRPV4 NM_021625.4(TRPV4): c.877G> A (p.Ala293Thr) single nucleotide variant Uncertain significance 12:110236694-110236694 12:109798889-109798889
117 TRPV4 NM_021625.4(TRPV4): c.834G> T (p.Glu278Asp) single nucleotide variant Uncertain significance 12:110238442-110238442 12:109800637-109800637
118 TRPV4 NM_021625.4(TRPV4): c.827A> C (p.Lys276Thr) single nucleotide variant Uncertain significance 12:110238449-110238449 12:109800644-109800644
119 TRPV4 NM_021625.4(TRPV4): c.820C> T (p.Gln274Ter) single nucleotide variant Uncertain significance 12:110238456-110238456 12:109800651-109800651
120 TRPV4 NM_021625.4(TRPV4): c.737T> C (p.Ile246Thr) single nucleotide variant Uncertain significance 12:110238539-110238539 12:109800734-109800734
121 TRPV4 NM_021625.4(TRPV4): c.661G> A (p.Gly221Ser) single nucleotide variant Uncertain significance 12:110240847-110240847 12:109803042-109803042
122 TRPV4 NM_021625.4(TRPV4): c.345C> G (p.His115Gln) single nucleotide variant Uncertain significance 12:110252257-110252257 12:109814452-109814452
123 TRPV4 NM_021625.4(TRPV4): c.202C> T (p.Arg68Cys) single nucleotide variant Uncertain significance 12:110252400-110252400 12:109814595-109814595
124 TRPV4 NM_021625.4(TRPV4): c.183C> T (p.Gly61=) single nucleotide variant Uncertain significance 12:110252419-110252419 12:109814614-109814614
125 TRPV4 NM_021625.4(TRPV4): c.145C> A (p.Pro49Thr) single nucleotide variant Uncertain significance 12:110252457-110252457 12:109814652-109814652
126 TRPV4 NM_021625.4(TRPV4): c.50A> G (p.Glu17Gly) single nucleotide variant Uncertain significance 12:110252552-110252552 12:109814747-109814747
127 TRPV4 NM_021625.4(TRPV4): c.34C> T (p.Pro12Ser) single nucleotide variant Uncertain significance 12:110252568-110252568 12:109814763-109814763
128 TRPV4 NM_021625.4(TRPV4): c.281C> T (p.Ser94Leu) single nucleotide variant Uncertain significance rs201927283 12:110252321-110252321 12:109814516-109814516
129 TRPV4 NM_021625.4(TRPV4): c.593C> G (p.Ala198Gly) single nucleotide variant Uncertain significance rs775317084 12:110240915-110240915 12:109803110-109803110
130 TRPV4 NM_021625.4(TRPV4): c.1912C> G (p.Pro638Ala) single nucleotide variant Uncertain significance rs760044422 12:110226501-110226501 12:109788696-109788696
131 TRPV4 NM_021625.4(TRPV4): c.114T> A (p.Asn38Lys) single nucleotide variant Uncertain significance rs878853090 12:110252488-110252488 12:109814683-109814683
132 TRPV4 NM_021625.4(TRPV4): c.1378C> T (p.Arg460Trp) single nucleotide variant Uncertain significance rs34227547 12:110232247-110232247 12:109794442-109794442
133 TRPV4 NM_021625.4(TRPV4): c.805C> A (p.Arg269Ser) single nucleotide variant Uncertain significance rs267607146 12:110238471-110238471 12:109800666-109800666
134 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 12:110221437-110221437 12:109783632-109783632
135 TRPV4 NM_021625.4(TRPV4): c.2304G> A (p.Ser768=) single nucleotide variant Likely benign rs138986228 12:110224547-110224547 12:109786742-109786742
136 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 12:110224603-110224603 12:109786798-109786798
137 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 12:110231773-110231773 12:109793968-109793968
138 TRPV4 NM_021625.4(TRPV4): c.387-6C> T single nucleotide variant Likely benign rs775634013 12:110246279-110246279 12:109808474-109808474
139 TRPV4 NM_021625.4(TRPV4): c.2151C> A (p.Leu717=) single nucleotide variant Likely benign rs1555205372 12:110226262-110226262 12:109788457-109788457
140 TRPV4 NM_021625.4(TRPV4): c.1899C> T (p.Val633=) single nucleotide variant Likely benign rs753027239 12:110226514-110226514 12:109788709-109788709
141 TRPV4 NM_021625.4(TRPV4): c.1479G> T (p.Pro493=) single nucleotide variant Likely benign rs1337838267 12:110232146-110232146 12:109794341-109794341
142 TRPV4 NM_021625.4(TRPV4): c.2295C> G (p.Gly765=) single nucleotide variant Likely benign rs753038628 12:110224556-110224556 12:109786751-109786751
143 TRPV4 NM_021625.4(TRPV4): c.1584+1G> A single nucleotide variant Likely benign rs775922797 12:110231734-110231734 12:109793929-109793929
144 TRPV4 NM_021625.4(TRPV4): c.336C> A (p.Thr112=) single nucleotide variant Likely benign rs969086736 12:110252266-110252266 12:109814461-109814461
145 TRPV4 NM_021625.4(TRPV4): c.1074C> T (p.Pro358=) single nucleotide variant Likely benign rs140040335 12:110236497-110236497 12:109798692-109798692
146 TRPV4 NM_021625.4(TRPV4): c.2244C> T (p.Phe748=) single nucleotide variant Likely benign rs1340974810 12:110224607-110224607 12:109786802-109786802
147 TRPV4 NM_021625.4(TRPV4): c.1566C> G (p.Val522=) single nucleotide variant Likely benign rs765724064 12:110231753-110231753 12:109793948-109793948
148 TRPV4 NM_021625.4(TRPV4): c.1611C> T (p.Cys537=) single nucleotide variant Likely benign rs1407714132 12:110231379-110231379 12:109793574-109793574
149 TRPV4 NM_021625.4(TRPV4): c.1398C> T (p.Phe466=) single nucleotide variant Likely benign rs146929022 12:110232227-110232227 12:109794422-109794422
150 TRPV4 NM_021625.4(TRPV4): c.300G> A (p.Lys100=) single nucleotide variant Likely benign rs370135765 12:110252302-110252302 12:109814497-109814497
151 TRPV4 NM_021625.4(TRPV4): c.2508G> A (p.Ser836=) single nucleotide variant Likely benign rs201884175 12:110221534-110221534 12:109783729-109783729
152 TRPV4 NM_021625.4(TRPV4): c.1152+10C> T single nucleotide variant Likely benign rs766655934 12:110236409-110236409 12:109798604-109798604
153 TRPV4 NM_021625.4(TRPV4): c.1449C> G (p.Val483=) single nucleotide variant Likely benign rs1060504550 12:110232176-110232176 12:109794371-109794371
154 TRPV4 NM_021625.4(TRPV4): c.1464C> T (p.Thr488=) single nucleotide variant Likely benign rs146841400 12:110232161-110232161 12:109794356-109794356
155 TRPV4 NM_021625.4(TRPV4): c.2472G> A (p.Ser824=) single nucleotide variant Likely benign rs149988106 12:110221570-110221570 12:109783765-109783765
156 TRPV4 NM_021625.4(TRPV4): c.1062C> T (p.Ala354=) single nucleotide variant Likely benign rs115446386 12:110236509-110236509 12:109798704-109798704
157 TRPV4 NM_021625.4(TRPV4): c.903C> G (p.Val301=) single nucleotide variant Likely benign rs748103823 12:110236668-110236668 12:109798863-109798863
158 TRPV4 NM_021625.4(TRPV4): c.760G> A (p.Val254Met) single nucleotide variant Likely benign rs143548402 12:110238516-110238516 12:109800711-109800711
159 TRPV4 NM_021625.4(TRPV4): c.549G> A (p.Glu183=) single nucleotide variant Benign/Likely benign rs141908793 12:110246111-110246111 12:109808306-109808306
160 TRPV4 NM_021625.4(TRPV4): c.501C> T (p.Asp167=) single nucleotide variant Benign/Likely benign rs77680510 12:110246159-110246159 12:109808354-109808354
161 TRPV4 NM_021625.4(TRPV4): c.1824+4C> T single nucleotide variant Benign/Likely benign rs147259744 12:110230453-110230453 12:109792648-109792648
162 TRPV4 NM_021625.4(TRPV4): c.2043C> T (p.Gly681=) single nucleotide variant Benign/Likely benign rs375633647 12:110226370-110226370 12:109788565-109788565
163 TRPV4 NM_021625.4(TRPV4): c.1744C> T (p.Leu582=) single nucleotide variant Benign/Likely benign rs35078611 12:110230537-110230537 12:109792732-109792732
164 TRPV4 NM_021625.4(TRPV4): c.1539C> T (p.Gly513=) single nucleotide variant Benign/Likely benign rs141295418 12:110231780-110231780 12:109793975-109793975
165 TRPV4 NM_021625.4(TRPV4): c.1581C> T (p.Thr527=) single nucleotide variant Benign/Likely benign rs114653066 12:110231738-110231738 12:109793933-109793933
166 TRPV4 NM_021625.4(TRPV4): c.57C> T (p.Pro19=) single nucleotide variant Benign/Likely benign rs112408790 12:110252545-110252545 12:109814740-109814740
167 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 12:110234354-110234354 12:109796549-109796549
168 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Benign/Likely benign rs115657305 12:110240786-110240786 12:109802981-109802981
169 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 12:110252450-110252450 12:109814645-109814645
170 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 12:110222146-110222146 12:109784341-109784341
171 TRPV4 NM_021625.4(TRPV4): c.810G> A (p.Gly270=) single nucleotide variant Benign/Likely benign rs147558344 12:110238466-110238466 12:109800661-109800661
172 TRPV4 NM_021625.4(TRPV4): c.1341C> T (p.His447=) single nucleotide variant Benign/Likely benign rs57316123 12:110232284-110232284 12:109794479-109794479
173 TRPV4 NM_021625.4(TRPV4): c.396G> A (p.Pro132=) single nucleotide variant Benign/Likely benign rs114101785 12:110246264-110246264 12:109808459-109808459
174 TRPV4 NM_021625.4(TRPV4): c.387-4C> T single nucleotide variant Benign/Likely benign rs12305439 12:110246277-110246277 12:109808472-109808472
175 TRPV4 NM_021625.4(TRPV4): c.1713C> G (p.Ile571Met) single nucleotide variant Benign/Likely benign rs185933892 12:110230568-110230568 12:109792763-109792763
176 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 12:110221544-110221544 12:109783739-109783739
177 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Benign/Likely benign rs187864727 12:110240859-110240859 12:109803054-109803054
178 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 12:110234519-110234519 12:109796714-109796714
179 TRPV4 NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys) single nucleotide variant Benign/Likely benign rs55728855 12:110221524-110221524 12:109783719-109783719
180 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 12:110230597-110230597 12:109792792-109792792
181 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 12:110252569-110252569 12:109814764-109814764
182 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Benign/Likely benign rs371733585 12:110236721-110236721 12:109798916-109798916
183 TRPV4 NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser) single nucleotide variant Benign rs3742030 12:110252547-110252547 12:109814742-109814742
184 TRPV4 NM_021625.4(TRPV4): c.2289C> T (p.Thr763=) single nucleotide variant Benign rs202036871 12:110224562-110224562 12:109786757-109786757
185 TRPV4 NM_021625.4(TRPV4): c.81T> C (p.Gly27=) single nucleotide variant Benign rs34599967 12:110252521-110252521 12:109814716-109814716
186 TRPV4 NM_021625.4(TRPV4): c.2459-9T> G single nucleotide variant Benign rs115373018 12:110221592-110221592 12:109783787-109783787
187 TRPV4 NM_021625.4(TRPV4): c.854-5C> T single nucleotide variant Benign rs116401333 12:110236722-110236722 12:109798917-109798917

Expression for Charcot-Marie-Tooth Disease Type 2c

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease Type 2c.

Pathways for Charcot-Marie-Tooth Disease Type 2c

GO Terms for Charcot-Marie-Tooth Disease Type 2c

Sources for Charcot-Marie-Tooth Disease Type 2c

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