MCID: CHR139
MIFTS: 21

Charcot-Marie-Tooth Disease Type 2c

Categories: Genetic diseases, Metabolic diseases, Muscle 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 54 30 6
Charcot-Marie-Tooth Disease, Axonal, Type 2c 54
Hereditary Motor and Sensory Neuropathy 2 C 54
Charcot-Marie-Tooth Disease, Type 2c 74
Charcot Marie Tooth Disease Type 2c 54
Hmsn 2 C 54
Cmt 2c 54

Classifications:



External Ids:

UMLS 74 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, axonal, 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 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, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k 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
Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 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 6, show less)
# Related Disease Score Top Affiliating Genes
1 hereditary motor and sensory neuropathy, type iic 12.6
2 charcot-marie-tooth disease 10.7
3 tooth disease 10.7
4 muscular atrophy 10.5
5 scapuloperoneal spinal muscular atrophy 10.4
6 neuronopathy, distal hereditary motor, type viii 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 30 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 19, show less)
# Title Authors Year
1
Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation. ( 26048687 )
2015
2
Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation. ( 26162716 )
2015
3
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. ( 24789864 )
2014
4
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family. ( 22675077 )
2012
5
Muscle MRI in TRPV4-related congenital distal SMA. ( 22291064 )
2012
6
Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder. ( 22065612 )
2011
7
TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. ( 21288981 )
2011
8
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. ( 21336783 )
2011
9
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. ( 20037586 )
2010
10
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. ( 20037587 )
2010
11
CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. ( 21115951 )
2010
12
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. ( 20037588 )
2010
13
Channelopathies converge on TRPV4. ( 20104247 )
2010
14
Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. ( 15668982 )
2005
15
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. ( 12062259 )
2002
16
Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy. ( 10463355 )
1999
17
Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. ( 8179305 )
1994
18
A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features. ( 1520078 )
1992
19
A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis. ( 4056805 )
1985

Variations for Charcot-Marie-Tooth Disease Type 2c

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

6 (showing 308, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile) single nucleotide variant Pathogenic rs121912633 GRCh37 Chromosome 12, 110230201: 110230201
2 TRPV4 NM_021625.4(TRPV4): c.1858G> A (p.Val620Ile) single nucleotide variant Pathogenic rs121912633 GRCh38 Chromosome 12, 109792396: 109792396
3 TRPV4 NM_021625.4(TRPV4): c.1781G> A (p.Arg594His) single nucleotide variant Pathogenic rs77975504 GRCh37 Chromosome 12, 110230500: 110230500
4 TRPV4 NM_021625.4(TRPV4): c.1781G> A (p.Arg594His) single nucleotide variant Pathogenic rs77975504 GRCh38 Chromosome 12, 109792695: 109792695
5 TRPV4 NM_021625.4(TRPV4): c.2396C> T (p.Pro799Leu) single nucleotide variant Pathogenic rs121912637 GRCh37 Chromosome 12, 110222183: 110222183
6 TRPV4 NM_021625.4(TRPV4): c.2396C> T (p.Pro799Leu) single nucleotide variant Pathogenic rs121912637 GRCh38 Chromosome 12, 109784378: 109784378
7 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
8 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh38 Chromosome 12, 109798823: 109798823
9 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
10 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh38 Chromosome 12, 109800665: 109800665
11 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
12 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh38 Chromosome 12, 109798820: 109798820
13 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471
14 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh38 Chromosome 12, 109800666: 109800666
15 TRPV4 NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser) single nucleotide variant Benign rs3742030 GRCh37 Chromosome 12, 110252547: 110252547
16 TRPV4 NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser) single nucleotide variant Benign rs3742030 GRCh38 Chromosome 12, 109814742: 109814742
17 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 GRCh37 Chromosome 12, 110231365: 110231365
18 TRPV4 NM_021625.4(TRPV4): c.1625C> A (p.Ser542Tyr) single nucleotide variant Pathogenic rs387906902 GRCh38 Chromosome 12, 109793560: 109793560
19 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh37 Chromosome 12, 110240814: 110240814
20 TRPV4 NM_021625.4(TRPV4): c.694C> T (p.Arg232Cys) single nucleotide variant Pathogenic rs387906904 GRCh38 Chromosome 12, 109803009: 109803009
21 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
22 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh38 Chromosome 12, 109798819: 109798819
23 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh37 Chromosome 12, 110246103: 110246103
24 TRPV4 NM_021625.4(TRPV4): c.557G> A (p.Arg186Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514494 GRCh38 Chromosome 12, 109808298: 109808298
25 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh37 Chromosome 12, 110240859: 110240859
26 TRPV4 NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187864727 GRCh38 Chromosome 12, 109803054: 109803054
27 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 GRCh37 Chromosome 12, 110234519: 110234519
28 TRPV4 NM_021625.4(TRPV4): c.1153-10C> T single nucleotide variant Benign/Likely benign rs149541389 GRCh38 Chromosome 12, 109796714: 109796714
29 TRPV4 NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys) single nucleotide variant Benign/Likely benign rs55728855 GRCh37 Chromosome 12, 110221524: 110221524
30 TRPV4 NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys) single nucleotide variant Benign/Likely benign rs55728855 GRCh38 Chromosome 12, 109783719: 109783719
31 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh37 Chromosome 12, 110230597: 110230597
32 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh38 Chromosome 12, 109792792: 109792792
33 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh37 Chromosome 12, 110252569: 110252569
34 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh38 Chromosome 12, 109814764: 109814764
35 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Benign/Likely benign rs371733585 GRCh37 Chromosome 12, 110236721: 110236721
36 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Benign/Likely benign rs371733585 GRCh38 Chromosome 12, 109798916: 109798916
37 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh38 Chromosome 12, 109783632: 109783632
38 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh37 Chromosome 12, 110221437: 110221437
39 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh38 Chromosome 12, 109783739: 109783739
40 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh37 Chromosome 12, 110221544: 110221544
41 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh38 Chromosome 12, 109786798: 109786798
42 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh37 Chromosome 12, 110224603: 110224603
43 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh38 Chromosome 12, 109793968: 109793968
44 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh37 Chromosome 12, 110231773: 110231773
45 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh38 Chromosome 12, 109796549: 109796549
46 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh37 Chromosome 12, 110234354: 110234354
47 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh38 Chromosome 12, 109800702: 109800702
48 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh37 Chromosome 12, 110238507: 110238507
49 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Benign/Likely benign rs115657305 GRCh38 Chromosome 12, 109802981: 109802981
50 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Benign/Likely benign rs115657305 GRCh37 Chromosome 12, 110240786: 110240786
51 TRPV4 NM_021625.4(TRPV4): c.281C> T (p.Ser94Leu) single nucleotide variant Uncertain significance rs201927283 GRCh38 Chromosome 12, 109814516: 109814516
52 TRPV4 NM_021625.4(TRPV4): c.281C> T (p.Ser94Leu) single nucleotide variant Uncertain significance rs201927283 GRCh37 Chromosome 12, 110252321: 110252321
53 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh37 Chromosome 12, 110252450: 110252450
54 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh38 Chromosome 12, 109814645: 109814645
55 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh38 Chromosome 12, 109784341: 109784341
56 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh37 Chromosome 12, 110222146: 110222146
57 TRPV4 NM_021625.4(TRPV4): c.810G> A (p.Gly270=) single nucleotide variant Benign/Likely benign rs147558344 GRCh38 Chromosome 12, 109800661: 109800661
58 TRPV4 NM_021625.4(TRPV4): c.810G> A (p.Gly270=) single nucleotide variant Benign/Likely benign rs147558344 GRCh37 Chromosome 12, 110238466: 110238466
59 TRPV4 NM_021625.4(TRPV4): c.593C> G (p.Ala198Gly) single nucleotide variant Uncertain significance rs775317084 GRCh37 Chromosome 12, 110240915: 110240915
60 TRPV4 NM_021625.4(TRPV4): c.593C> G (p.Ala198Gly) single nucleotide variant Uncertain significance rs775317084 GRCh38 Chromosome 12, 109803110: 109803110
61 TRPV4 NM_021625.4(TRPV4): c.1912C> G (p.Pro638Ala) single nucleotide variant Uncertain significance rs760044422 GRCh37 Chromosome 12, 110226501: 110226501
62 TRPV4 NM_021625.4(TRPV4): c.1912C> G (p.Pro638Ala) single nucleotide variant Uncertain significance rs760044422 GRCh38 Chromosome 12, 109788696: 109788696
63 TRPV4 NM_021625.4(TRPV4): c.114T> A (p.Asn38Lys) single nucleotide variant Uncertain significance rs878853090 GRCh37 Chromosome 12, 110252488: 110252488
64 TRPV4 NM_021625.4(TRPV4): c.114T> A (p.Asn38Lys) single nucleotide variant Uncertain significance rs878853090 GRCh38 Chromosome 12, 109814683: 109814683
65 TRPV4 NM_021625.4(TRPV4): c.1713C> G (p.Ile571Met) single nucleotide variant Benign/Likely benign rs185933892 GRCh38 Chromosome 12, 109792763: 109792763
66 TRPV4 NM_021625.4(TRPV4): c.1713C> G (p.Ile571Met) single nucleotide variant Benign/Likely benign rs185933892 GRCh37 Chromosome 12, 110230568: 110230568
67 TRPV4 NM_021625.4(TRPV4): c.1656delC (p.Tyr553Thrfs) deletion Conflicting interpretations of pathogenicity rs541606391 GRCh38 Chromosome 12, 109793529: 109793529
68 TRPV4 NM_021625.4(TRPV4): c.1656delC (p.Tyr553Thrfs) deletion Conflicting interpretations of pathogenicity rs541606391 GRCh37 Chromosome 12, 110231334: 110231334
69 TRPV4 NM_021625.4(TRPV4): c.1627C> T (p.Leu543Phe) single nucleotide variant Uncertain significance rs779325064 GRCh38 Chromosome 12, 109793558: 109793558
70 TRPV4 NM_021625.4(TRPV4): c.1627C> T (p.Leu543Phe) single nucleotide variant Uncertain significance rs779325064 GRCh37 Chromosome 12, 110231363: 110231363
71 TRPV4 NM_021625.4(TRPV4): c.1581C> T (p.Thr527=) single nucleotide variant Benign/Likely benign rs114653066 GRCh37 Chromosome 12, 110231738: 110231738
72 TRPV4 NM_021625.4(TRPV4): c.1581C> T (p.Thr527=) single nucleotide variant Benign/Likely benign rs114653066 GRCh38 Chromosome 12, 109793933: 109793933
73 TRPV4 NM_021625.4(TRPV4): c.1378C> T (p.Arg460Trp) single nucleotide variant Uncertain significance rs34227547 GRCh38 Chromosome 12, 109794442: 109794442
74 TRPV4 NM_021625.4(TRPV4): c.1378C> T (p.Arg460Trp) single nucleotide variant Uncertain significance rs34227547 GRCh37 Chromosome 12, 110232247: 110232247
75 TRPV4 NM_021625.4(TRPV4): c.1341C> T (p.His447=) single nucleotide variant Benign/Likely benign rs57316123 GRCh37 Chromosome 12, 110232284: 110232284
76 TRPV4 NM_021625.4(TRPV4): c.1341C> T (p.His447=) single nucleotide variant Benign/Likely benign rs57316123 GRCh38 Chromosome 12, 109794479: 109794479
77 TRPV4 NM_021625.4(TRPV4): c.396G> A (p.Pro132=) single nucleotide variant Benign/Likely benign rs114101785 GRCh37 Chromosome 12, 110246264: 110246264
78 TRPV4 NM_021625.4(TRPV4): c.396G> A (p.Pro132=) single nucleotide variant Benign/Likely benign rs114101785 GRCh38 Chromosome 12, 109808459: 109808459
79 TRPV4 NM_021625.4(TRPV4): c.387-4C> T single nucleotide variant Benign/Likely benign rs12305439 GRCh38 Chromosome 12, 109808472: 109808472
80 TRPV4 NM_021625.4(TRPV4): c.387-4C> T single nucleotide variant Benign/Likely benign rs12305439 GRCh37 Chromosome 12, 110246277: 110246277
81 TRPV4 NM_021625.4(TRPV4): c.159T> A (p.Asp53Glu) single nucleotide variant Uncertain significance rs765021989 GRCh37 Chromosome 12, 110252443: 110252443
82 TRPV4 NM_021625.4(TRPV4): c.159T> A (p.Asp53Glu) single nucleotide variant Uncertain significance rs765021989 GRCh38 Chromosome 12, 109814638: 109814638
83 TRPV4 NM_021625.4(TRPV4): c.81T> C (p.Gly27=) single nucleotide variant Benign rs34599967 GRCh37 Chromosome 12, 110252521: 110252521
84 TRPV4 NM_021625.4(TRPV4): c.81T> C (p.Gly27=) single nucleotide variant Benign rs34599967 GRCh38 Chromosome 12, 109814716: 109814716
85 TRPV4 NM_021625.4(TRPV4): c.2452C> T (p.Arg818Cys) single nucleotide variant Uncertain significance rs776544875 GRCh37 Chromosome 12, 110222127: 110222127
86 TRPV4 NM_021625.4(TRPV4): c.2452C> T (p.Arg818Cys) single nucleotide variant Uncertain significance rs776544875 GRCh38 Chromosome 12, 109784322: 109784322
87 TRPV4 NM_021625.4(TRPV4): c.1539C> T (p.Gly513=) single nucleotide variant Benign/Likely benign rs141295418 GRCh37 Chromosome 12, 110231780: 110231780
88 TRPV4 NM_021625.4(TRPV4): c.1539C> T (p.Gly513=) single nucleotide variant Benign/Likely benign rs141295418 GRCh38 Chromosome 12, 109793975: 109793975
89 TRPV4 NM_021625.4(TRPV4): c.1390C> T (p.Arg464Cys) single nucleotide variant Uncertain significance rs373049874 GRCh37 Chromosome 12, 110232235: 110232235
90 TRPV4 NM_021625.4(TRPV4): c.1390C> T (p.Arg464Cys) single nucleotide variant Uncertain significance rs373049874 GRCh38 Chromosome 12, 109794430: 109794430
91 TRPV4 NM_021625.4(TRPV4): c.1139C> T (p.Thr380Met) single nucleotide variant Uncertain significance rs764949536 GRCh37 Chromosome 12, 110236432: 110236432
92 TRPV4 NM_021625.4(TRPV4): c.1139C> T (p.Thr380Met) single nucleotide variant Uncertain significance rs764949536 GRCh38 Chromosome 12, 109798627: 109798627
93 TRPV4 NM_021625.4(TRPV4): c.956C> T (p.Ser319Leu) single nucleotide variant Uncertain significance rs377518118 GRCh37 Chromosome 12, 110236615: 110236615
94 TRPV4 NM_021625.4(TRPV4): c.956C> T (p.Ser319Leu) single nucleotide variant Uncertain significance rs377518118 GRCh38 Chromosome 12, 109798810: 109798810
95 TRPV4 NM_021625.4(TRPV4): c.479G> A (p.Arg160Gln) single nucleotide variant Uncertain significance rs139300843 GRCh37 Chromosome 12, 110246181: 110246181
96 TRPV4 NM_021625.4(TRPV4): c.479G> A (p.Arg160Gln) single nucleotide variant Uncertain significance rs139300843 GRCh38 Chromosome 12, 109808376: 109808376
97 TRPV4 NM_021625.4(TRPV4): c.402C> A (p.Ser134Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201241092 GRCh37 Chromosome 12, 110246258: 110246258
98 TRPV4 NM_021625.4(TRPV4): c.402C> A (p.Ser134Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201241092 GRCh38 Chromosome 12, 109808453: 109808453
99 TRPV4 NM_021625.4(TRPV4): c.37G> T (p.Gly13Trp) single nucleotide variant Uncertain significance rs763302555 GRCh37 Chromosome 12, 110252565: 110252565
100 TRPV4 NM_021625.4(TRPV4): c.37G> T (p.Gly13Trp) single nucleotide variant Uncertain significance rs763302555 GRCh38 Chromosome 12, 109814760: 109814760
101 TRPV4 NM_021625.4(TRPV4): c.37G> A (p.Gly13Arg) single nucleotide variant Uncertain significance rs763302555 GRCh37 Chromosome 12, 110252565: 110252565
102 TRPV4 NM_021625.4(TRPV4): c.37G> A (p.Gly13Arg) single nucleotide variant Uncertain significance rs763302555 GRCh38 Chromosome 12, 109814760: 109814760
103 TRPV4 NM_021625.4(TRPV4): c.2459-9T> G single nucleotide variant Benign rs115373018 GRCh37 Chromosome 12, 110221592: 110221592
104 TRPV4 NM_021625.4(TRPV4): c.2459-9T> G single nucleotide variant Benign rs115373018 GRCh38 Chromosome 12, 109783787: 109783787
105 TRPV4 NM_021625.4(TRPV4): c.1744C> T (p.Leu582=) single nucleotide variant Benign/Likely benign rs35078611 GRCh38 Chromosome 12, 109792732: 109792732
106 TRPV4 NM_021625.4(TRPV4): c.1744C> T (p.Leu582=) single nucleotide variant Benign/Likely benign rs35078611 GRCh37 Chromosome 12, 110230537: 110230537
107 TRPV4 NM_021625.4(TRPV4): c.903C> G (p.Val301=) single nucleotide variant Likely benign rs748103823 GRCh37 Chromosome 12, 110236668: 110236668
108 TRPV4 NM_021625.4(TRPV4): c.903C> G (p.Val301=) single nucleotide variant Likely benign rs748103823 GRCh38 Chromosome 12, 109798863: 109798863
109 TRPV4 NM_021625.4(TRPV4): c.1491+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201815805 GRCh37 Chromosome 12, 110232124: 110232124
110 TRPV4 NM_021625.4(TRPV4): c.1491+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201815805 GRCh38 Chromosome 12, 109794319: 109794319
111 TRPV4 NM_021625.4(TRPV4): c.1824+4C> T single nucleotide variant Benign/Likely benign rs147259744 GRCh37 Chromosome 12, 110230453: 110230453
112 TRPV4 NM_021625.4(TRPV4): c.1824+4C> T single nucleotide variant Benign/Likely benign rs147259744 GRCh38 Chromosome 12, 109792648: 109792648
113 TRPV4 NM_021625.4(TRPV4): c.2043C> T (p.Gly681=) single nucleotide variant Benign/Likely benign rs375633647 GRCh37 Chromosome 12, 110226370: 110226370
114 TRPV4 NM_021625.4(TRPV4): c.2043C> T (p.Gly681=) single nucleotide variant Benign/Likely benign rs375633647 GRCh38 Chromosome 12, 109788565: 109788565
115 TRPV4 NM_021625.4(TRPV4): c.760G> A (p.Val254Met) single nucleotide variant Likely benign rs143548402 GRCh38 Chromosome 12, 109800711: 109800711
116 TRPV4 NM_021625.4(TRPV4): c.760G> A (p.Val254Met) single nucleotide variant Likely benign rs143548402 GRCh37 Chromosome 12, 110238516: 110238516
117 TRPV4 NM_021625.4(TRPV4): c.1093G> A (p.Val365Met) single nucleotide variant Conflicting interpretations of pathogenicity rs570675468 GRCh37 Chromosome 12, 110236478: 110236478
118 TRPV4 NM_021625.4(TRPV4): c.1093G> A (p.Val365Met) single nucleotide variant Conflicting interpretations of pathogenicity rs570675468 GRCh38 Chromosome 12, 109798673: 109798673
119 TRPV4 NM_021625.4(TRPV4): c.854-5C> T single nucleotide variant Benign rs116401333 GRCh38 Chromosome 12, 109798917: 109798917
120 TRPV4 NM_021625.4(TRPV4): c.854-5C> T single nucleotide variant Benign rs116401333 GRCh37 Chromosome 12, 110236722: 110236722
121 TRPV4 NM_021625.4(TRPV4): c.549G> A (p.Glu183=) single nucleotide variant Benign/Likely benign rs141908793 GRCh38 Chromosome 12, 109808306: 109808306
122 TRPV4 NM_021625.4(TRPV4): c.549G> A (p.Glu183=) single nucleotide variant Benign/Likely benign rs141908793 GRCh37 Chromosome 12, 110246111: 110246111
123 TRPV4 NM_021625.4(TRPV4): c.501C> T (p.Asp167=) single nucleotide variant Benign/Likely benign rs77680510 GRCh38 Chromosome 12, 109808354: 109808354
124 TRPV4 NM_021625.4(TRPV4): c.501C> T (p.Asp167=) single nucleotide variant Benign/Likely benign rs77680510 GRCh37 Chromosome 12, 110246159: 110246159
125 TRPV4 NM_021625.4(TRPV4): c.1464C> T (p.Thr488=) single nucleotide variant Likely benign rs146841400 GRCh37 Chromosome 12, 110232161: 110232161
126 TRPV4 NM_021625.4(TRPV4): c.1464C> T (p.Thr488=) single nucleotide variant Likely benign rs146841400 GRCh38 Chromosome 12, 109794356: 109794356
127 TRPV4 NM_021625.4(TRPV4): c.2472G> A (p.Ser824=) single nucleotide variant Likely benign rs149988106 GRCh37 Chromosome 12, 110221570: 110221570
128 TRPV4 NM_021625.4(TRPV4): c.2472G> A (p.Ser824=) single nucleotide variant Likely benign rs149988106 GRCh38 Chromosome 12, 109783765: 109783765
129 TRPV4 NM_021625.4(TRPV4): c.1062C> T (p.Ala354=) single nucleotide variant Likely benign rs115446386 GRCh37 Chromosome 12, 110236509: 110236509
130 TRPV4 NM_021625.4(TRPV4): c.1062C> T (p.Ala354=) single nucleotide variant Likely benign rs115446386 GRCh38 Chromosome 12, 109798704: 109798704
131 TRPV4 NM_021625.4(TRPV4): c.2440G> T (p.Val814Leu) single nucleotide variant Uncertain significance rs202075458 GRCh37 Chromosome 12, 110222139: 110222139
132 TRPV4 NM_021625.4(TRPV4): c.2440G> T (p.Val814Leu) single nucleotide variant Uncertain significance rs202075458 GRCh38 Chromosome 12, 109784334: 109784334
133 TRPV4 NM_021625.4(TRPV4): c.1152+10C> T single nucleotide variant Likely benign rs766655934 GRCh37 Chromosome 12, 110236409: 110236409
134 TRPV4 NM_021625.4(TRPV4): c.1152+10C> T single nucleotide variant Likely benign rs766655934 GRCh38 Chromosome 12, 109798604: 109798604
135 TRPV4 NM_021625.4(TRPV4): c.1957A> G (p.Thr653Ala) single nucleotide variant Uncertain significance rs769927678 GRCh37 Chromosome 12, 110226456: 110226456
136 TRPV4 NM_021625.4(TRPV4): c.1957A> G (p.Thr653Ala) single nucleotide variant Uncertain significance rs769927678 GRCh38 Chromosome 12, 109788651: 109788651
137 TRPV4 NM_021625.4(TRPV4): c.1493C> T (p.Pro498Leu) single nucleotide variant Uncertain significance rs1051494811 GRCh37 Chromosome 12, 110231826: 110231826
138 TRPV4 NM_021625.4(TRPV4): c.1493C> T (p.Pro498Leu) single nucleotide variant Uncertain significance rs1051494811 GRCh38 Chromosome 12, 109794021: 109794021
139 TRPV4 NM_021625.4(TRPV4): c.1449C> G (p.Val483=) single nucleotide variant Likely benign rs1060504550 GRCh37 Chromosome 12, 110232176: 110232176
140 TRPV4 NM_021625.4(TRPV4): c.1449C> G (p.Val483=) single nucleotide variant Likely benign rs1060504550 GRCh38 Chromosome 12, 109794371: 109794371
141 TRPV4 NM_021625.4(TRPV4): c.1976C> T (p.Ser659Leu) single nucleotide variant Uncertain significance rs779715512 GRCh37 Chromosome 12, 110226437: 110226437
142 TRPV4 NM_021625.4(TRPV4): c.1976C> T (p.Ser659Leu) single nucleotide variant Uncertain significance rs779715512 GRCh38 Chromosome 12, 109788632: 109788632
143 TRPV4 NM_021625.4(TRPV4): c.300G> A (p.Lys100=) single nucleotide variant Likely benign rs370135765 GRCh37 Chromosome 12, 110252302: 110252302
144 TRPV4 NM_021625.4(TRPV4): c.300G> A (p.Lys100=) single nucleotide variant Likely benign rs370135765 GRCh38 Chromosome 12, 109814497: 109814497
145 TRPV4 NM_021625.4(TRPV4): c.2508G> A (p.Ser836=) single nucleotide variant Likely benign rs201884175 GRCh37 Chromosome 12, 110221534: 110221534
146 TRPV4 NM_021625.4(TRPV4): c.2508G> A (p.Ser836=) single nucleotide variant Likely benign rs201884175 GRCh38 Chromosome 12, 109783729: 109783729
147 TRPV4 NM_021625.4(TRPV4): c.1658+5G> A single nucleotide variant Uncertain significance rs756714651 GRCh37 Chromosome 12, 110231327: 110231327
148 TRPV4 NM_021625.4(TRPV4): c.1658+5G> A single nucleotide variant Uncertain significance rs756714651 GRCh38 Chromosome 12, 109793522: 109793522
149 TRPV4 NM_021625.4(TRPV4): c.847T> A (p.Tyr283Asn) single nucleotide variant Uncertain significance rs200210023 GRCh37 Chromosome 12, 110238429: 110238429
150 TRPV4 NM_021625.4(TRPV4): c.847T> A (p.Tyr283Asn) single nucleotide variant Uncertain significance rs200210023 GRCh38 Chromosome 12, 109800624: 109800624
151 TRPV4 NM_021625.4(TRPV4): c.649G> A (p.Ala217Thr) single nucleotide variant Uncertain significance rs187864727 GRCh38 Chromosome 12, 109803054: 109803054
152 TRPV4 NM_021625.4(TRPV4): c.649G> A (p.Ala217Thr) single nucleotide variant Uncertain significance rs187864727 GRCh37 Chromosome 12, 110240859: 110240859
153 TRPV4 NM_021625.4(TRPV4): c.569C> T (p.Thr190Met) single nucleotide variant Uncertain significance rs1031096826 GRCh37 Chromosome 12, 110240939: 110240939
154 TRPV4 NM_021625.4(TRPV4): c.569C> T (p.Thr190Met) single nucleotide variant Uncertain significance rs1031096826 GRCh38 Chromosome 12, 109803134: 109803134
155 TRPV4 NM_021625.4(TRPV4): c.25C> T (p.Arg9Cys) single nucleotide variant Uncertain significance rs758741868 GRCh37 Chromosome 12, 110252577: 110252577
156 TRPV4 NM_021625.4(TRPV4): c.25C> T (p.Arg9Cys) single nucleotide variant Uncertain significance rs758741868 GRCh38 Chromosome 12, 109814772: 109814772
157 TRPV4 NM_021625.4(TRPV4): c.57C> T (p.Pro19=) single nucleotide variant Benign/Likely benign rs112408790 GRCh37 Chromosome 12, 110252545: 110252545
158 TRPV4 NM_021625.4(TRPV4): c.57C> T (p.Pro19=) single nucleotide variant Benign/Likely benign rs112408790 GRCh38 Chromosome 12, 109814740: 109814740
159 TRPV4 NM_021625.4(TRPV4): c.2425G> A (p.Gly809Ser) single nucleotide variant Uncertain significance rs375851168 GRCh37 Chromosome 12, 110222154: 110222154
160 TRPV4 NM_021625.4(TRPV4): c.2425G> A (p.Gly809Ser) single nucleotide variant Uncertain significance rs375851168 GRCh38 Chromosome 12, 109784349: 109784349
161 TRPV4 NM_021625.4(TRPV4): c.655C> T (p.Arg219Cys) single nucleotide variant Uncertain significance rs754023659 GRCh37 Chromosome 12, 110240853: 110240853
162 TRPV4 NM_021625.4(TRPV4): c.655C> T (p.Arg219Cys) single nucleotide variant Uncertain significance rs754023659 GRCh38 Chromosome 12, 109803048: 109803048
163 TRPV4 NM_021625.4(TRPV4): c.523A> G (p.Thr175Ala) single nucleotide variant Uncertain significance rs146304351 GRCh37 Chromosome 12, 110246137: 110246137
164 TRPV4 NM_021625.4(TRPV4): c.523A> G (p.Thr175Ala) single nucleotide variant Uncertain significance rs146304351 GRCh38 Chromosome 12, 109808332: 109808332
165 TRPV4 NM_021625.4(TRPV4): c.1577T> G (p.Phe526Cys) single nucleotide variant Uncertain significance rs1329377960 GRCh37 Chromosome 12, 110231742: 110231742
166 TRPV4 NM_021625.4(TRPV4): c.1577T> G (p.Phe526Cys) single nucleotide variant Uncertain significance rs1329377960 GRCh38 Chromosome 12, 109793937: 109793937
167 TRPV4 NM_021625.4(TRPV4): c.1398C> T (p.Phe466=) single nucleotide variant Likely benign rs146929022 GRCh37 Chromosome 12, 110232227: 110232227
168 TRPV4 NM_021625.4(TRPV4): c.1398C> T (p.Phe466=) single nucleotide variant Likely benign rs146929022 GRCh38 Chromosome 12, 109794422: 109794422
169 TRPV4 NM_021625.4(TRPV4): c.656G> A (p.Arg219His) single nucleotide variant Uncertain significance rs767331924 GRCh37 Chromosome 12, 110240852: 110240852
170 TRPV4 NM_021625.4(TRPV4): c.656G> A (p.Arg219His) single nucleotide variant Uncertain significance rs767331924 GRCh38 Chromosome 12, 109803047: 109803047
171 TRPV4 NM_021625.4(TRPV4): c.646A> G (p.Ile216Val) single nucleotide variant Uncertain significance rs1318320106 GRCh37 Chromosome 12, 110240862: 110240862
172 TRPV4 NM_021625.4(TRPV4): c.646A> G (p.Ile216Val) single nucleotide variant Uncertain significance rs1318320106 GRCh38 Chromosome 12, 109803057: 109803057
173 TRPV4 NM_021625.4(TRPV4): c.26G> A (p.Arg9His) single nucleotide variant Uncertain significance rs776163103 GRCh37 Chromosome 12, 110252576: 110252576
174 TRPV4 NM_021625.4(TRPV4): c.26G> A (p.Arg9His) single nucleotide variant Uncertain significance rs776163103 GRCh38 Chromosome 12, 109814771: 109814771
175 TRPV4 NM_021625.4(TRPV4): c.1957A> C (p.Thr653Pro) single nucleotide variant Uncertain significance rs769927678 GRCh38 Chromosome 12, 109788651: 109788651
176 TRPV4 NM_021625.4(TRPV4): c.1957A> C (p.Thr653Pro) single nucleotide variant Uncertain significance rs769927678 GRCh37 Chromosome 12, 110226456: 110226456
177 TRPV4 NM_021625.4(TRPV4): c.1006C> T (p.Arg336Cys) single nucleotide variant Uncertain significance rs781229110 GRCh38 Chromosome 12, 109798760: 109798760
178 TRPV4 NM_021625.4(TRPV4): c.1006C> T (p.Arg336Cys) single nucleotide variant Uncertain significance rs781229110 GRCh37 Chromosome 12, 110236565: 110236565
179 TRPV4 NM_021625.4(TRPV4): c.711A> G (p.Arg237=) single nucleotide variant Uncertain significance rs927188562 GRCh38 Chromosome 12, 109802992: 109802992
180 TRPV4 NM_021625.4(TRPV4): c.711A> G (p.Arg237=) single nucleotide variant Uncertain significance rs927188562 GRCh37 Chromosome 12, 110240797: 110240797
181 TRPV4 NM_021625.4(TRPV4): c.701T> C (p.Ile234Thr) single nucleotide variant Uncertain significance rs1555208627 GRCh38 Chromosome 12, 109803002: 109803002
182 TRPV4 NM_021625.4(TRPV4): c.701T> C (p.Ile234Thr) single nucleotide variant Uncertain significance rs1555208627 GRCh37 Chromosome 12, 110240807: 110240807
183 TRPV4 NM_021625.4(TRPV4): c.2289C> T (p.Thr763=) single nucleotide variant Benign rs202036871 GRCh38 Chromosome 12, 109786757: 109786757
184 TRPV4 NM_021625.4(TRPV4): c.2289C> T (p.Thr763=) single nucleotide variant Benign rs202036871 GRCh37 Chromosome 12, 110224562: 110224562
185 TRPV4 NM_021625.4(TRPV4): c.1528C> T (p.Arg510Trp) single nucleotide variant Uncertain significance rs918220829 GRCh38 Chromosome 12, 109793986: 109793986
186 TRPV4 NM_021625.4(TRPV4): c.1528C> T (p.Arg510Trp) single nucleotide variant Uncertain significance rs918220829 GRCh37 Chromosome 12, 110231791: 110231791
187 TRPV4 NM_021625.4(TRPV4): c.958C> T (p.Arg320Ter) single nucleotide variant Uncertain significance rs142902080 GRCh38 Chromosome 12, 109798808: 109798808
188 TRPV4 NM_021625.4(TRPV4): c.958C> T (p.Arg320Ter) single nucleotide variant Uncertain significance rs142902080 GRCh37 Chromosome 12, 110236613: 110236613
189 TRPV4 NM_021625.4(TRPV4): c.1611C> T (p.Cys537=) single nucleotide variant Likely benign rs1407714132 GRCh37 Chromosome 12, 110231379: 110231379
190 TRPV4 NM_021625.4(TRPV4): c.1611C> T (p.Cys537=) single nucleotide variant Likely benign rs1407714132 GRCh38 Chromosome 12, 109793574: 109793574
191 TRPV4 NM_021625.4(TRPV4): c.1175G> C (p.Arg392Pro) single nucleotide variant Uncertain significance rs770364304 GRCh37 Chromosome 12, 110234487: 110234487
192 TRPV4 NM_021625.4(TRPV4): c.1175G> C (p.Arg392Pro) single nucleotide variant Uncertain significance rs770364304 GRCh38 Chromosome 12, 109796682: 109796682
193 TRPV4 NM_021625.4(TRPV4): c.137C> T (p.Ser46Phe) single nucleotide variant Uncertain significance rs202066574 GRCh37 Chromosome 12, 110252465: 110252465
194 TRPV4 NM_021625.4(TRPV4): c.137C> T (p.Ser46Phe) single nucleotide variant Uncertain significance rs202066574 GRCh38 Chromosome 12, 109814660: 109814660
195 TRPV4 NM_021625.4(TRPV4): c.2304G> C (p.Ser768=) single nucleotide variant Conflicting interpretations of pathogenicity rs138986228 GRCh37 Chromosome 12, 110224547: 110224547
196 TRPV4 NM_021625.4(TRPV4): c.2304G> C (p.Ser768=) single nucleotide variant Conflicting interpretations of pathogenicity rs138986228 GRCh38 Chromosome 12, 109786742: 109786742
197 TRPV4 NM_021625.4(TRPV4): c.2304G> A (p.Ser768=) single nucleotide variant Likely benign rs138986228 GRCh37 Chromosome 12, 110224547: 110224547
198 TRPV4 NM_021625.4(TRPV4): c.2304G> A (p.Ser768=) single nucleotide variant Likely benign rs138986228 GRCh38 Chromosome 12, 109786742: 109786742
199 TRPV4 NM_021625.4(TRPV4): c.651G> A (p.Ala217=) single nucleotide variant Conflicting interpretations of pathogenicity rs371280831 GRCh37 Chromosome 12, 110240857: 110240857
200 TRPV4 NM_021625.4(TRPV4): c.651G> A (p.Ala217=) single nucleotide variant Conflicting interpretations of pathogenicity rs371280831 GRCh38 Chromosome 12, 109803052: 109803052
201 TRPV4 NM_021625.4(TRPV4): c.395C> T (p.Pro132Leu) single nucleotide variant Uncertain significance rs779371027 GRCh38 Chromosome 12, 109808460: 109808460
202 TRPV4 NM_021625.4(TRPV4): c.1376T> G (p.Leu459Arg) single nucleotide variant Uncertain significance rs201132615 GRCh37 Chromosome 12, 110232249: 110232249
203 TRPV4 NM_021625.4(TRPV4): c.1376T> G (p.Leu459Arg) single nucleotide variant Uncertain significance rs201132615 GRCh38 Chromosome 12, 109794444: 109794444
204 TRPV4 NM_021625.4(TRPV4): c.616C> T (p.Arg206Cys) single nucleotide variant Uncertain significance rs200497189 GRCh38 Chromosome 12, 109803087: 109803087
205 TRPV4 NM_021625.4(TRPV4): c.616C> T (p.Arg206Cys) single nucleotide variant Uncertain significance rs200497189 GRCh37 Chromosome 12, 110240892: 110240892
206 TRPV4 NM_021625.4(TRPV4): c.395C> T (p.Pro132Leu) single nucleotide variant Uncertain significance rs779371027 GRCh37 Chromosome 12, 110246265: 110246265
207 TRPV4 NM_021625.4(TRPV4): c.2246C> G (p.Pro749Arg) single nucleotide variant Uncertain significance rs1555205050 GRCh37 Chromosome 12, 110224605: 110224605
208 TRPV4 NM_021625.4(TRPV4): c.2246C> G (p.Pro749Arg) single nucleotide variant Uncertain significance rs1555205050 GRCh38 Chromosome 12, 109786800: 109786800
209 TRPV4 NM_021625.4(TRPV4): c.2320C> T (p.Arg774Cys) single nucleotide variant Uncertain significance rs145102919 GRCh37 Chromosome 12, 110224531: 110224531
210 TRPV4 NM_021625.4(TRPV4): c.2320C> T (p.Arg774Cys) single nucleotide variant Uncertain significance rs145102919 GRCh38 Chromosome 12, 109786726: 109786726
211 TRPV4 NM_021625.4(TRPV4): c.2244C> T (p.Phe748=) single nucleotide variant Likely benign rs1340974810 GRCh37 Chromosome 12, 110224607: 110224607
212 TRPV4 NM_021625.4(TRPV4): c.2244C> T (p.Phe748=) single nucleotide variant Likely benign rs1340974810 GRCh38 Chromosome 12, 109786802: 109786802
213 TRPV4 NM_021625.4(TRPV4): c.1566C> G (p.Val522=) single nucleotide variant Likely benign rs765724064 GRCh37 Chromosome 12, 110231753: 110231753
214 TRPV4 NM_021625.4(TRPV4): c.1566C> G (p.Val522=) single nucleotide variant Likely benign rs765724064 GRCh38 Chromosome 12, 109793948: 109793948
215 TRPV4 NM_021625.4(TRPV4): c.1439G> T (p.Cys480Phe) single nucleotide variant Uncertain significance rs943346163 GRCh37 Chromosome 12, 110232186: 110232186
216 TRPV4 NM_021625.4(TRPV4): c.1439G> T (p.Cys480Phe) single nucleotide variant Uncertain significance rs943346163 GRCh38 Chromosome 12, 109794381: 109794381
217 TRPV4 NM_021625.4(TRPV4): c.1328T> C (p.Ile443Thr) single nucleotide variant Uncertain significance rs1032807952 GRCh37 Chromosome 12, 110234334: 110234334
218 TRPV4 NM_021625.4(TRPV4): c.1328T> C (p.Ile443Thr) single nucleotide variant Uncertain significance rs1032807952 GRCh38 Chromosome 12, 109796529: 109796529
219 TRPV4 NM_021625.4(TRPV4): c.1342G> A (p.Glu448Lys) single nucleotide variant Uncertain significance rs373103155 GRCh37 Chromosome 12, 110232283: 110232283
220 TRPV4 NM_021625.4(TRPV4): c.1342G> A (p.Glu448Lys) single nucleotide variant Uncertain significance rs373103155 GRCh38 Chromosome 12, 109794478: 109794478
221 TRPV4 NM_021625.4(TRPV4): c.1115C> T (p.Ser372Leu) single nucleotide variant Uncertain significance rs1479394096 GRCh37 Chromosome 12, 110236456: 110236456
222 TRPV4 NM_021625.4(TRPV4): c.1115C> T (p.Ser372Leu) single nucleotide variant Uncertain significance rs1479394096 GRCh38 Chromosome 12, 109798651: 109798651
223 TRPV4 NM_021625.4(TRPV4): c.1337G> A (p.Arg446His) single nucleotide variant Uncertain significance rs143502097 GRCh37 Chromosome 12, 110232288: 110232288
224 TRPV4 NM_021625.4(TRPV4): c.1337G> A (p.Arg446His) single nucleotide variant Uncertain significance rs143502097 GRCh38 Chromosome 12, 109794483: 109794483
225 TRPV4 NM_021625.4(TRPV4): c.1074C> T (p.Pro358=) single nucleotide variant Likely benign rs140040335 GRCh37 Chromosome 12, 110236497: 110236497
226 TRPV4 NM_021625.4(TRPV4): c.1074C> T (p.Pro358=) single nucleotide variant Likely benign rs140040335 GRCh38 Chromosome 12, 109798692: 109798692
227 TRPV4 NM_021625.4(TRPV4): c.1199G> A (p.Arg400Gln) single nucleotide variant Uncertain significance rs926925253 GRCh37 Chromosome 12, 110234463: 110234463
228 TRPV4 NM_021625.4(TRPV4): c.1199G> A (p.Arg400Gln) single nucleotide variant Uncertain significance rs926925253 GRCh38 Chromosome 12, 109796658: 109796658
229 TRPV4 NM_021625.4(TRPV4): c.940A> G (p.Met314Val) single nucleotide variant Uncertain significance rs151101009 GRCh37 Chromosome 12, 110236631: 110236631
230 TRPV4 NM_021625.4(TRPV4): c.940A> G (p.Met314Val) single nucleotide variant Uncertain significance rs151101009 GRCh38 Chromosome 12, 109798826: 109798826
231 TRPV4 NM_021625.4(TRPV4): c.670_671delAGinsCA (p.Arg224Gln) indel Uncertain significance rs1555208643 GRCh38 Chromosome 12, 109803032: 109803033
232 TRPV4 NM_021625.4(TRPV4): c.670_671delAGinsCA (p.Arg224Gln) indel Uncertain significance rs1555208643 GRCh37 Chromosome 12, 110240837: 110240838
233 TRPV4 NM_021625.4(TRPV4): c.336C> A (p.Thr112=) single nucleotide variant Likely benign rs969086736 GRCh38 Chromosome 12, 109814461: 109814461
234 TRPV4 NM_021625.4(TRPV4): c.336C> A (p.Thr112=) single nucleotide variant Likely benign rs969086736 GRCh37 Chromosome 12, 110252266: 110252266
235 TRPV4 NM_021625.4(TRPV4): c.805C> A (p.Arg269Ser) single nucleotide variant Uncertain significance rs267607146 GRCh37 Chromosome 12, 110238471: 110238471
236 TRPV4 NM_021625.4(TRPV4): c.805C> A (p.Arg269Ser) single nucleotide variant Uncertain significance rs267607146 GRCh38 Chromosome 12, 109800666: 109800666
237 TRPV4 NM_021625.4(TRPV4): c.710G> T (p.Arg237Leu) single nucleotide variant Likely pathogenic rs1289139464 GRCh38 Chromosome 12, 109802993: 109802993
238 TRPV4 NM_021625.4(TRPV4): c.710G> T (p.Arg237Leu) single nucleotide variant Likely pathogenic rs1289139464 GRCh37 Chromosome 12, 110240798: 110240798
239 TRPV4 NM_021625.4(TRPV4): c.167G> A (p.Arg56His) single nucleotide variant Uncertain significance rs767169716 GRCh38 Chromosome 12, 109814630: 109814630
240 TRPV4 NM_021625.4(TRPV4): c.167G> A (p.Arg56His) single nucleotide variant Uncertain significance rs767169716 GRCh37 Chromosome 12, 110252435: 110252435
241 TRPV4 NM_021625.4(TRPV4): c.2570A> G (p.Gln857Arg) single nucleotide variant Uncertain significance rs1262126429 GRCh38 Chromosome 12, 109783667: 109783667
242 TRPV4 NM_021625.4(TRPV4): c.2570A> G (p.Gln857Arg) single nucleotide variant Uncertain significance rs1262126429 GRCh37 Chromosome 12, 110221472: 110221472
243 TRPV4 NM_021625.4(TRPV4): c.2295C> G (p.Gly765=) single nucleotide variant Likely benign rs753038628 GRCh38 Chromosome 12, 109786751: 109786751
244 TRPV4 NM_021625.4(TRPV4): c.2295C> G (p.Gly765=) single nucleotide variant Likely benign rs753038628 GRCh37 Chromosome 12, 110224556: 110224556
245 TRPV4 NM_021625.4(TRPV4): c.1584+1G> A single nucleotide variant Likely benign rs775922797 GRCh38 Chromosome 12, 109793929: 109793929
246 TRPV4 NM_021625.4(TRPV4): c.1584+1G> A single nucleotide variant Likely benign rs775922797 GRCh37 Chromosome 12, 110231734: 110231734
247 TRPV4 NM_021625.4(TRPV4): c.712+5G> A single nucleotide variant Uncertain significance rs372251308 GRCh37 Chromosome 12, 110240791: 110240791
248 TRPV4 NM_021625.4(TRPV4): c.712+5G> A single nucleotide variant Uncertain significance rs372251308 GRCh38 Chromosome 12, 109802986: 109802986
249 TRPV4 NM_021625.4(TRPV4): c.387-6C> T single nucleotide variant Likely benign rs775634013 GRCh38 Chromosome 12, 109808474: 109808474
250 TRPV4 NM_021625.4(TRPV4): c.387-6C> T single nucleotide variant Likely benign rs775634013 GRCh37 Chromosome 12, 110246279: 110246279
251 TRPV4 NM_021625.4(TRPV4): c.2151C> A (p.Leu717=) single nucleotide variant Likely benign rs1555205372 GRCh37 Chromosome 12, 110226262: 110226262
252 TRPV4 NM_021625.4(TRPV4): c.2151C> A (p.Leu717=) single nucleotide variant Likely benign rs1555205372 GRCh38 Chromosome 12, 109788457: 109788457
253 TRPV4 NM_021625.4(TRPV4): c.1899C> T (p.Val633=) single nucleotide variant Likely benign rs753027239 GRCh38 Chromosome 12, 109788709: 109788709
254 TRPV4 NM_021625.4(TRPV4): c.1899C> T (p.Val633=) single nucleotide variant Likely benign rs753027239 GRCh37 Chromosome 12, 110226514: 110226514
255 TRPV4 NM_021625.4(TRPV4): c.1479G> T (p.Pro493=) single nucleotide variant Likely benign rs1337838267 GRCh38 Chromosome 12, 109794341: 109794341
256 TRPV4 NM_021625.4(TRPV4): c.1479G> T (p.Pro493=) single nucleotide variant Likely benign rs1337838267 GRCh37 Chromosome 12, 110232146: 110232146
257 TRPV4 NM_021625.4(TRPV4): c.1450A> G (p.Ile484Val) single nucleotide variant Uncertain significance rs1555206591 GRCh37 Chromosome 12, 110232175: 110232175
258 TRPV4 NM_021625.4(TRPV4): c.1450A> G (p.Ile484Val) single nucleotide variant Uncertain significance rs1555206591 GRCh38 Chromosome 12, 109794370: 109794370
259 TRPV4 NM_021625.4(TRPV4): c.602A> G (p.Asn201Ser) single nucleotide variant Uncertain significance rs1555208698 GRCh37 Chromosome 12, 110240906: 110240906
260 TRPV4 NM_021625.4(TRPV4): c.602A> G (p.Asn201Ser) single nucleotide variant Uncertain significance rs1555208698 GRCh38 Chromosome 12, 109803101: 109803101
261 TRPV4 NM_021625.4(TRPV4): c.331G> A (p.Gly111Ser) single nucleotide variant Uncertain significance rs768721947 GRCh38 Chromosome 12, 109814466: 109814466
262 TRPV4 NM_021625.4(TRPV4): c.331G> A (p.Gly111Ser) single nucleotide variant Uncertain significance rs768721947 GRCh37 Chromosome 12, 110252271: 110252271
263 TRPV4 NM_021625.4(TRPV4): c.153G> A (p.Pro51=) single nucleotide variant Uncertain significance rs577306678 GRCh37 Chromosome 12, 110252449: 110252449
264 TRPV4 NM_021625.4(TRPV4): c.153G> A (p.Pro51=) single nucleotide variant Uncertain significance rs577306678 GRCh38 Chromosome 12, 109814644: 109814644
265 TRPV4 NM_021625.4(TRPV4): c.1491+5G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110232129: 110232129
266 TRPV4 NM_021625.4(TRPV4): c.1491+5G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109794324: 109794324
267 TRPV4 NM_021625.4(TRPV4): c.686C> T (p.Ser229Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110240822: 110240822
268 TRPV4 NM_021625.4(TRPV4): c.686C> T (p.Ser229Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109803017: 109803017
269 TRPV4 NM_021625.4(TRPV4): c.184G> A (p.Asp62Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110252418: 110252418
270 TRPV4 NM_021625.4(TRPV4): c.184G> A (p.Asp62Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109814613: 109814613
271 TRPV4 NM_021625.4(TRPV4): c.1729G> A (p.Val577Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109792747: 109792747
272 TRPV4 NM_021625.4(TRPV4): c.1729G> A (p.Val577Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110230552: 110230552
273 TRPV4 NM_021625.4(TRPV4): c.1522T> C (p.Tyr508His) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110231797: 110231797
274 TRPV4 NM_021625.4(TRPV4): c.1522T> C (p.Tyr508His) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109793992: 109793992
275 TRPV4 NM_021625.4(TRPV4): c.935C> T (p.Ala312Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110236636: 110236636
276 TRPV4 NM_021625.4(TRPV4): c.935C> T (p.Ala312Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109798831: 109798831
277 TRPV4 NM_021625.4(TRPV4): c.2489T> C (p.Val830Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109783748: 109783748
278 TRPV4 NM_021625.4(TRPV4): c.2489T> C (p.Val830Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110221553: 110221553
279 TRPV4 NM_021625.4(TRPV4): c.2482C> A (p.Arg828Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109783755: 109783755
280 TRPV4 NM_021625.4(TRPV4): c.2482C> A (p.Arg828Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110221560: 110221560
281 TRPV4 NM_021625.4(TRPV4): c.2456G> A (p.Arg819Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109784318: 109784318
282 TRPV4 NM_021625.4(TRPV4): c.2456G> A (p.Arg819Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110222123: 110222123
283 TRPV4 NM_021625.4(TRPV4): c.1392C> T (p.Arg464=) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109794428: 109794428
284 TRPV4 NM_021625.4(TRPV4): c.1392C> T (p.Arg464=) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110232233: 110232233
285 TRPV4 NM_021625.4(TRPV4): c.556C> T (p.Arg186Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109808299: 109808299
286 TRPV4 NM_021625.4(TRPV4): c.556C> T (p.Arg186Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110246104: 110246104
287 TRPV4 NM_021625.4(TRPV4): c.2495T> G (p.Leu832Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109783742: 109783742
288 TRPV4 NM_021625.4(TRPV4): c.2495T> G (p.Leu832Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110221547: 110221547
289 TRPV4 NM_021625.4(TRPV4): c.2432C> T (p.Ser811Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109784342: 109784342
290 TRPV4 NM_021625.4(TRPV4): c.2432C> T (p.Ser811Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110222147: 110222147
291 TRPV4 NM_021625.4(TRPV4): c.2162C> G (p.Thr721Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109788446: 109788446
292 TRPV4 NM_021625.4(TRPV4): c.2162C> G (p.Thr721Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110226251: 110226251
293 TRPV4 NM_021625.4(TRPV4): c.1825-8G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109792437: 109792437
294 TRPV4 NM_021625.4(TRPV4): c.1825-8G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110230242: 110230242
295 TRPV4 NM_021625.4(TRPV4): c.1584C> T (p.Asn528=) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109793930: 109793930
296 TRPV4 NM_021625.4(TRPV4): c.1584C> T (p.Asn528=) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110231735: 110231735
297 TRPV4 NM_021625.4(TRPV4): c.1514C> T (p.Thr505Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109794000: 109794000
298 TRPV4 NM_021625.4(TRPV4): c.1514C> T (p.Thr505Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110231805: 110231805
299 TRPV4 NM_021625.4(TRPV4): c.1465G> A (p.Ala489Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109794355: 109794355
300 TRPV4 NM_021625.4(TRPV4): c.1465G> A (p.Ala489Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110232160: 110232160
301 TRPV4 NM_021625.4(TRPV4): c.915G> A (p.Thr305=) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109798851: 109798851
302 TRPV4 NM_021625.4(TRPV4): c.915G> A (p.Thr305=) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110236656: 110236656
303 TRPV4 NM_021625.4(TRPV4): c.746G> A (p.Arg249His) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109800725: 109800725
304 TRPV4 NM_021625.4(TRPV4): c.746G> A (p.Arg249His) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110238530: 110238530
305 TRPV4 NM_021625.4(TRPV4): c.229A> G (p.Lys77Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110252373: 110252373
306 TRPV4 NM_021625.4(TRPV4): c.229A> G (p.Lys77Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109814568: 109814568
307 TRPV4 NM_021625.4(TRPV4): c.1445T> C (p.Met482Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109794375: 109794375
308 TRPV4 NM_021625.4(TRPV4): c.1445T> C (p.Met482Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110232180: 110232180

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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