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Links from MedGen

Items: 14

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr12:110234447
GRCh38:
Chr12:109796642
TRPV4K358N, K371N, K405NParastremmatic dwarfismUncertain significance
(Sep 1, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr12:110252412
GRCh38:
Chr12:109814607
TRPV4R30*, R64*Spondylometaphyseal dysplasia, Kozlowski type, Spondyloepimetaphyseal dysplasia, Maroteaux type, Parastremmatic dwarfism,
Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Avascular necrosis of femoral head, primary, 2,
Sodium serum level quantitative trait locus 1, Brachyrachia (short spine dysplasia), Familial digital arthropathy-brachydactyly,
Metatropic dysplasia, Charcot-Marie-Tooth disease axonal type 2CCharcot-Marie-Tooth disease axonal type 2C,
...see more		Uncertain significance
(Feb 4, 2022)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr12:110252400
GRCh38:
Chr12:109814595
TRPV4R34C, R68CBrachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant congenital benign spinal muscular atrophy,
Metatropic dysplasia, Spondyloepimetaphyseal dysplasia, Maroteaux type, Scapuloperoneal spinal muscular atrophy,
Familial digital arthropathy-brachydactyly, Parastremmatic dwarfism, Sodium serum level quantitative trait locus 1,
Charcot-Marie-Tooth disease axonal type 2C, Avascular necrosis of femoral head, primary, 2Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease axonal type 2C, ...see more		Uncertain significance
(Jan 17, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr12:110252418
GRCh38:
Chr12:109814613
TRPV4D62N, D28NSodium serum level quantitative trait locus 1, Charcot-Marie-Tooth disease axonal type 2C, Spondylometaphyseal dysplasia, Kozlowski type,
Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia), Familial digital arthropathy-brachydactyly,
Spondyloepimetaphyseal dysplasia, Maroteaux type, Scapuloperoneal spinal muscular atrophy, Metatropic dysplasia,
Parastremmatic dwarfism, Avascular necrosis of femoral head, primary, 2Inborn genetic diseases,
Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease, ...see more		Uncertain significance
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr12:110232249
GRCh38:
Chr12:109794444
TRPV4L459R, L425R, L399R, L412R, L352Rnot provided, Avascular necrosis of femoral head, primary, 2, Brachyrachia (short spine dysplasia),
Metatropic dysplasia, Spondyloepimetaphyseal dysplasia, Maroteaux type, Scapuloperoneal spinal muscular atrophy,
Sodium serum level quantitative trait locus 1, Charcot-Marie-Tooth disease axonal type 2C, Parastremmatic dwarfism,
Familial digital arthropathy-brachydactyly, Spondylometaphyseal dysplasia, Kozlowski typeAutosomal dominant congenital benign spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases, ...see more		Uncertain significance
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr12:110222154
GRCh38:
Chr12:109784349
TRPV4G809S, G775S, G702S, G749S, G762SSpondyloepimetaphyseal dysplasia, Maroteaux type, Scapuloperoneal spinal muscular atrophy, Metatropic dysplasia,
Sodium serum level quantitative trait locus 1, Familial digital arthropathy-brachydactyly, Spondylometaphyseal dysplasia, Kozlowski type,
Autosomal dominant congenital benign spinal muscular atrophy, Parastremmatic dwarfism, Charcot-Marie-Tooth disease axonal type 2C,
Brachyrachia (short spine dysplasia), Avascular necrosis of femoral head, primary, 2not specified,
Charcot-Marie-Tooth disease axonal type 2C, ...see more		Uncertain significance
(Aug 26, 2021)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr12:110240939
GRCh38:
Chr12:109803134
TRPV4T190M, T156MMetatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type, Charcot-Marie-Tooth disease axonal type 2C,
Avascular necrosis of femoral head, primary, 2, Brachyrachia (short spine dysplasia), Spondyloepimetaphyseal dysplasia, Maroteaux type,
Familial digital arthropathy-brachydactyly, Autosomal dominant congenital benign spinal muscular atrophy, Sodium serum level quantitative trait locus 1,
Parastremmatic dwarfism, Scapuloperoneal spinal muscular atrophynot provided,
...see more		Uncertain significance
(Oct 31, 2018)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr12:110226437
GRCh38:
Chr12:109788632
TRPV4S659L, S625L, S552L, S599L, S612LCharcot-Marie-Tooth disease axonal type 2C, not provided, Inborn genetic diseases,
Familial digital arthropathy-brachydactyly, Spondyloepimetaphyseal dysplasia, Maroteaux type, Sodium serum level quantitative trait locus 1,
Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia), Metatropic dysplasia,
Parastremmatic dwarfism, Spondylometaphyseal dysplasia, Kozlowski typeAutosomal dominant congenital benign spinal muscular atrophy,
Scapuloperoneal spinal muscular atrophy, Avascular necrosis of femoral head, primary, 2, Charcot-Marie-Tooth disease,
...see more		Conflicting interpretations of pathogenicity
(Aug 10, 2022)		criteria provided, conflicting interpretations
9.
GRCh37:
Chr12:110236722
GRCh38:
Chr12:109798917
TRPV4Charcot-Marie-Tooth disease, not specified, not provided,
Scapuloperoneal spinal muscular atrophy, Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type,
Metatropic dysplasia, Spondyloepimetaphyseal dysplasia, Maroteaux type, Autosomal dominant congenital benign spinal muscular atrophy,
Scapuloperoneal spinal muscular atrophy, Avascular necrosis of femoral head, primary, 2Sodium serum level quantitative trait locus 1,
Familial digital arthropathy-brachydactyly, Parastremmatic dwarfism, Charcot-Marie-Tooth disease axonal type 2C,
Connective tissue disorder, Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type,
Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
...see more		Benign/Likely benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr12:110221571
GRCh38:
Chr12:109783766
TRPV4S824L, S717L, S764L, S777L, S790Lnot provided, Scapuloperoneal spinal muscular atrophy, Metatropic dysplasia,
Parastremmatic dwarfism, Sodium serum level quantitative trait locus 1, Charcot-Marie-Tooth disease axonal type 2C,
Spondylometaphyseal dysplasia, Kozlowski type, Avascular necrosis of femoral head, primary, 2, Familial digital arthropathy-brachydactyly,
Spondyloepimetaphyseal dysplasia, Maroteaux type, Autosomal dominant congenital benign spinal muscular atrophyBrachyrachia (short spine dysplasia),
...see more		Uncertain significance
(Feb 14, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr12:110234519
GRCh38:
Chr12:109796714
TRPV4Scapuloperoneal spinal muscular atrophy, Brachyrachia (short spine dysplasia), Metatropic dysplasia,
Parastremmatic dwarfism, Charcot-Marie-Tooth disease axonal type 2C, Avascular necrosis of femoral head, primary, 2,
Familial digital arthropathy-brachydactyly, Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant congenital benign spinal muscular atrophy,
Spondyloepimetaphyseal dysplasia, Maroteaux type, Sodium serum level quantitative trait locus 1Charcot-Marie-Tooth disease,
not specified, not provided, Scapuloperoneal spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Brachyrachia (short spine dysplasia),
Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, ...see more		Benign/Likely benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr12:110238470
GRCh38:
Chr12:109800665
TRPV4R269H, R235HInborn genetic diseases, Avascular necrosis of femoral head, primary, 2, Spondyloepimetaphyseal dysplasia, Maroteaux type,
Familial digital arthropathy-brachydactyly, Scapuloperoneal spinal muscular atrophy, Parastremmatic dwarfism,
Metatropic dysplasia, Charcot-Marie-Tooth disease axonal type 2C, Sodium serum level quantitative trait locus 1,
Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant congenital benign spinal muscular atrophyBrachyrachia (short spine dysplasia),
TRPV4-related bone disorder, Charcot-Marie-Tooth disease, not provided,
Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, ...see more		Pathogenic/Likely pathogenic
(Jul 1, 2023)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr12:110222183
GRCh38:
Chr12:109784378
TRPV4P692L, P752L, P739L, P765LInborn genetic diseases, not provided, Parastremmatic dwarfism,
Spondyloepimetaphyseal dysplasia, Maroteaux type, Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia,
Charcot-Marie-Tooth disease axonal type 2C		Pathogenic
(Sep 1, 2023)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr12:110230500
GRCh38:
Chr12:109792695
TRPV4R534H, R487H, R547H, R560HInborn genetic diseases, not provided, Spondylometaphyseal dysplasia, Kozlowski type,
Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C		Pathogenic/Likely pathogenic
(Dec 7, 2022)		criteria provided, multiple submitters, no conflicts
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