| - GRCh37:
- Chr12:110252412
- GRCh38:
- Chr12:109814607
| TRPV4 | R30*, 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 |
| - GRCh37:
- Chr12:110252400
- GRCh38:
- Chr12:109814595
| TRPV4 | R34C, R68C | Brachyrachia (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 |
| - GRCh37:
- Chr12:110252418
- GRCh38:
- Chr12:109814613
| TRPV4 | D62N, D28N | Sodium 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 |
| - GRCh37:
- Chr12:110232249
- GRCh38:
- Chr12:109794444
| TRPV4 | L459R, L425R, L399R, L412R, L352R | not 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 |
| - GRCh37:
- Chr12:110222154
- GRCh38:
- Chr12:109784349
| TRPV4 | G809S, G775S, G702S, G749S, G762S | Spondyloepimetaphyseal 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 |
| - GRCh37:
- Chr12:110240939
- GRCh38:
- Chr12:109803134
| TRPV4 | T190M, T156M | Metatropic 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 |
| - GRCh37:
- Chr12:110226437
- GRCh38:
- Chr12:109788632
| TRPV4 | S659L, S625L, S552L, S599L, S612L | Charcot-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 |
| - GRCh37:
- Chr12:110236722
- GRCh38:
- Chr12:109798917
| TRPV4 | | not provided, Parastremmatic dwarfism, Autosomal dominant congenital benign spinal muscular atrophy,
Brachyrachia (short spine dysplasia), Metatropic dysplasia, Scapuloperoneal spinal muscular atrophy,
Spondylometaphyseal dysplasia, Kozlowski type, Sodium serum level quantitative trait locus 1, Charcot-Marie-Tooth disease axonal type 2C,
Familial digital arthropathy-brachydactyly, Spondyloepimetaphyseal dysplasia, Maroteaux typeAvascular necrosis of femoral head, primary, 2,
Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia,
Connective tissue disorder, not specified, Autosomal dominant congenital benign spinal muscular atrophy,
Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type, Charcot-Marie-Tooth disease,
...see more | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110221571
- GRCh38:
- Chr12:109783766
| TRPV4 | S824L, S717L, S764L, S777L, S790L | not 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 |
| - GRCh37:
- Chr12:110234519
- GRCh38:
- Chr12:109796714
| TRPV4 | | Brachyrachia (short spine dysplasia), Parastremmatic dwarfism, Spondyloepimetaphyseal dysplasia, Maroteaux type,
Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
Scapuloperoneal spinal muscular atrophy, Avascular necrosis of femoral head, primary, 2, Familial digital arthropathy-brachydactyly,
Spondylometaphyseal dysplasia, Kozlowski 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, Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia), ...see more | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110238457
- GRCh38:
- Chr12:109800652
| TRPV4 | F273L, F239L | Familial digital arthropathy-brachydactyly | Pathogenic
(Oct 2, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr12:110238467
- GRCh38:
- Chr12:109800662
| TRPV4 | G270V, G236V | Familial digital arthropathy-brachydactyly | Pathogenic
(Oct 2, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr12:110238464
- GRCh38:
- Chr12:109800659
| TRPV4 | R271P, R237P | Familial digital arthropathy-brachydactyly | Pathogenic
(Oct 2, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr12:110238470
- GRCh38:
- Chr12:109800665
| TRPV4 | R269H, R235H | TRPV4-related bone disorder, Avascular necrosis of femoral head, primary, 2, Parastremmatic dwarfism,
Scapuloperoneal spinal muscular atrophy, Metatropic dysplasia, Brachyrachia (short spine dysplasia),
Sodium serum level quantitative trait locus 1, Charcot-Marie-Tooth disease axonal type 2C, Spondylometaphyseal dysplasia, Kozlowski type,
Autosomal dominant congenital benign spinal muscular atrophy, Spondyloepimetaphyseal dysplasia, Maroteaux typeFamilial digital arthropathy-brachydactyly,
Inborn genetic diseases, 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 |