| - 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:
- Chr12:110221424
- GRCh38:
- Chr12:109783619
| TRPV4 | | Metatropic dysplasia, Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Mar 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110271182
- GRCh38:
- Chr12:109833377
| MIR4497, TRPV4 | | Metatropic dysplasia, Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221236
- GRCh38:
- Chr12:109783431
| TRPV4 | | Metatropic dysplasia, Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type,
Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy
| Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110238464
- GRCh38:
- Chr12:109800659
| TRPV4 | R237H, R271H | Inborn genetic diseases, Metatropic dysplasia, Brachyrachia (short spine dysplasia),
Spondylometaphyseal dysplasia, Kozlowski type, Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Autosomal dominant congenital benign spinal muscular atrophy | Conflicting interpretations of pathogenicity
(Jun 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110222146
- GRCh38:
- Chr12:109784341
| TRPV4 | | Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221199
- GRCh38:
- Chr12:109783394
| TRPV4 | | Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110246235
- GRCh38:
- Chr12:109808430
| TRPV4 | P142L, P108L | Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy,
Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia) | Uncertain significance
(Mar 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110220926
- GRCh38:
- Chr12:109783121
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Scapuloperoneal spinal muscular atrophy,
Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia)
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110271215
- GRCh38:
- Chr12:109833410
| MIR4497, TRPV4 | | Scapuloperoneal spinal muscular atrophy, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221343
- GRCh38:
- Chr12:109783538
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia,
Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221281
- GRCh38:
- Chr12:109783476
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia,
Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type, Scapuloperoneal spinal muscular atrophy
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221123
- GRCh38:
- Chr12:109783318
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia,
Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type, Scapuloperoneal spinal muscular atrophy
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110252407
- GRCh38:
- Chr12:109814602
| TRPV4 | | Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Brachyrachia (short spine dysplasia),
Autosomal dominant congenital benign spinal muscular atrophy, Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C
| Conflicting interpretations of pathogenicity
(Apr 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110221015
- GRCh38:
- Chr12:109783210
| TRPV4 | | Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Brachyrachia (short spine dysplasia),
Autosomal dominant congenital benign spinal muscular atrophy, Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221005
- GRCh38:
- Chr12:109783200
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Brachyrachia (short spine dysplasia),
Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Scapuloperoneal spinal muscular atrophy
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110246158
- GRCh38:
- Chr12:109808353
| TRPV4 | G168R, G134R | 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
| Uncertain significance
(Sep 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110238534
- GRCh38:
- Chr12:109800729
| TRPV4 | R248C, R214C | Inborn genetic diseases, Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia),
Spondylometaphyseal dysplasia, Kozlowski type | Conflicting interpretations of pathogenicity
(Sep 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110238479
- GRCh38:
- Chr12:109800674
| TRPV4 | A232V, A266V | Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110224593
- GRCh38:
- Chr12:109786788
| TRPV4 | R693K, R646K, R706K, R719K, R753K | Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Scapuloperoneal spinal muscular atrophy,
Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Brachyrachia (short spine dysplasia)
| Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110222140
- GRCh38:
- Chr12:109784335
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy, not provided, Charcot-Marie-Tooth disease axonal type 2C,
Brachyrachia (short spine dysplasia) | Conflicting interpretations of pathogenicity
(Jul 5, 2022) | criteria provided, conflicting interpretations |
| - 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:
- Chr12:110232160
- GRCh38:
- Chr12:109794355
| TRPV4 | A489T, A382T, A442T, A429T, A455T | Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia),
Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Scapuloperoneal spinal muscular atrophy
| Conflicting interpretations of pathogenicity
(Sep 1, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110230552
- GRCh38:
- Chr12:109792747
| TRPV4 | V577M, V470M, V517M, V543M, V530M | Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy, Inborn genetic diseases,
Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia,
Scapuloperoneal spinal muscular atrophy | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110231735
- GRCh38:
- Chr12:109793930
| TRPV4 | | Inborn genetic diseases, Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
not provided, Brachyrachia (short spine dysplasia) | Conflicting interpretations of pathogenicity
(Oct 4, 2022) | criteria provided, conflicting interpretations |
| - 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:
- Chr12:110226251
- GRCh38:
- Chr12:109788446
| TRPV4 | T721R, T614R, T661R, T674R, T687R | 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)
| Uncertain significance
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110236497
- GRCh38:
- Chr12:109798692
| TRPV4 | | Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia),
Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Inborn genetic diseases,
Scapuloperoneal spinal muscular atrophy | Benign/Likely benign
(Sep 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110224531
- GRCh38:
- Chr12:109786726
| TRPV4 | R774C, R714C, R667C, R740C, R727C | Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type, Inborn genetic diseases,
Scapuloperoneal spinal muscular atrophy | Conflicting interpretations of pathogenicity
(Sep 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110230581
- GRCh38:
- Chr12:109792776
| TRPV4 | Y567F, Y507F, Y533F, Y460F, Y520F | Charcot-Marie-Tooth disease, not provided, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia),
Spondylometaphyseal dysplasia, Kozlowski type, Inborn genetic diseases, Scapuloperoneal spinal muscular atrophy
| Conflicting interpretations of pathogenicity
(May 13, 2022) | criteria provided, conflicting interpretations |
| - 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:
- Chr12:110240857
- GRCh38:
- Chr12:109803052
| TRPV4 | | Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease axonal type 2C,
Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy, Scapuloperoneal spinal muscular atrophy | Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110224547
- GRCh38:
- Chr12:109786742
| TRPV4 | | Inborn genetic diseases, Charcot-Marie-Tooth disease, Connective tissue disorder,
Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy,
Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
not provided | Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110236613
- GRCh38:
- Chr12:109798808
| TRPV4 | R320*, R286*, R273* | Inborn genetic diseases, Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease,
Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, not provided,
Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type
| Conflicting interpretations of pathogenicity
(Aug 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110224562
- GRCh38:
- Chr12:109786757
| TRPV4 | | Inborn genetic diseases, not specified, Charcot-Marie-Tooth disease axonal type 2C,
Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia) | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110232227
- GRCh38:
- Chr12:109794422
| TRPV4 | | Inborn genetic diseases, not provided, Autosomal dominant congenital benign spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia), not specified,
Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia
| Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110246137
- GRCh38:
- Chr12:109808332
| TRPV4 | T175A, T141A | Inborn genetic diseases, Charcot-Marie-Tooth disease, Scapuloperoneal spinal muscular atrophy,
not provided, Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia
| Conflicting interpretations of pathogenicity
(Mar 30, 2022) | criteria provided, conflicting interpretations |
| - 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:
- Chr12:110221563
- GRCh38:
- Chr12:109783758
| TRPV4 | P827A, P720A, P780A, P767A, P793A | Spondylometaphyseal dysplasia, Kozlowski type | Uncertain significance
(May 4, 2016) | criteria provided, single submitter |
| - 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:
- Chr12:110236533
- GRCh38:
- Chr12:109798728
| TRPV4 | | not specified, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia),
Spondylometaphyseal dysplasia, Kozlowski type, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Jul 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110231317
- GRCh38:
- Chr12:109793512
| TRPV4 | | Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
Scapuloperoneal spinal muscular atrophy, Brachyrachia (short spine dysplasia), Charcot-Marie-Tooth disease,
not specified, Charcot-Marie-Tooth disease axonal type 2C | Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110221570
- GRCh38:
- Chr12:109783765
| TRPV4 | | Charcot-Marie-Tooth disease, not provided, Spondylometaphyseal dysplasia, Kozlowski type,
Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy, Inborn genetic diseases,
Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia)
| Benign/Likely benign
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110271197
- GRCh38:
- Chr12:109833392
| MIR4497, TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type,
Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110252431
- GRCh38:
- Chr12:109814626
| TRPV4 | | Inborn genetic diseases, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C | Conflicting interpretations of pathogenicity
(Jul 11, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110252397
- GRCh38:
- Chr12:109814592
| TRPV4 | M69L, M35L | Scapuloperoneal spinal muscular atrophy, Metatropic dysplasia, Inborn genetic diseases,
Brachyrachia (short spine dysplasia), Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy,
Spondylometaphyseal dysplasia, Kozlowski type, Connective tissue disorder, Charcot-Marie-Tooth disease
| Conflicting interpretations of pathogenicity
(Oct 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110246233
- GRCh38:
- Chr12:109808428
| TRPV4 | P143T, P109T | Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type, Charcot-Marie-Tooth disease axonal type 2C,
Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia, Scapuloperoneal spinal muscular atrophy
| Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110246159
- GRCh38:
- Chr12:109808354
| TRPV4 | | Spondylometaphyseal dysplasia, Kozlowski type, Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia, Brachyrachia (short spine dysplasia),
Inborn genetic diseases, not provided | Benign/Likely benign
(Sep 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110246111
- GRCh38:
- Chr12:109808306
| TRPV4 | | not specified, not provided, Scapuloperoneal spinal muscular atrophy,
Brachyrachia (short spine dysplasia), Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy, Inborn genetic diseases,
Spondylometaphyseal dysplasia, Kozlowski type | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110240886
- GRCh38:
- Chr12:109803081
| TRPV4 | D208N, D174N | Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy,
Metatropic dysplasia, Charcot-Marie-Tooth disease axonal type 2C, Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110240858
- GRCh38:
- Chr12:109803053
| TRPV4 | A217V, A183V | Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type,
Brachyrachia (short spine dysplasia), Autosomal dominant congenital benign spinal muscular atrophy, Scapuloperoneal spinal muscular atrophy
| Conflicting interpretations of pathogenicity
(Aug 26, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110238516
- GRCh38:
- Chr12:109800711
| TRPV4 | V254M, V220M | Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Inborn genetic diseases,
not specified, Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia),
Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Charcot-Marie-Tooth disease
| Benign/Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110236722
- GRCh38:
- Chr12:109798917
| TRPV4 | | Charcot-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 |
| - GRCh37:
- Chr12:110236635
- GRCh38:
- Chr12:109798830
| TRPV4 | | Inborn genetic diseases, Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia,
Brachyrachia (short spine dysplasia), Charcot-Marie-Tooth disease | Benign/Likely benign
(Jul 11, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110236608
- GRCh38:
- Chr12:109798803
| TRPV4 | | Inborn genetic diseases, Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Brachyrachia (short spine dysplasia), Autosomal dominant congenital benign spinal muscular atrophy, not provided,
Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia | Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110236478
- GRCh38:
- Chr12:109798673
| TRPV4 | V365M, V318M, V331M | Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia),
Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease axonal type 2C,
Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy | Benign/Likely benign
(Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110234451
- GRCh38:
- Chr12:109796646
| TRPV4 | R404H, R357H, R370H | not provided, Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia),
Autosomal dominant congenital benign spinal muscular atrophy | Conflicting interpretations of pathogenicity
(Sep 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110232273
- GRCh38:
- Chr12:109794468
| TRPV4 | A451V, A391V, A404V, A417V, A344V | Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy, Scapuloperoneal spinal muscular atrophy,
Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia)
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110232170
- GRCh38:
- Chr12:109794365
| TRPV4 | | not provided, Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia),
Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy,
Metatropic dysplasia, Scapuloperoneal spinal muscular atrophy | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110231722
- GRCh38:
- Chr12:109793917
| TRPV4 | | Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia,
Brachyrachia (short spine dysplasia), Charcot-Marie-Tooth disease axonal type 2C, not provided,
Scapuloperoneal spinal muscular atrophy | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110231389
- GRCh38:
- Chr12:109793584
| TRPV4 | M534T, M474T, M500T, M487T, M427T | Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type,
Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Brachyrachia (short spine dysplasia)
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110230485
- GRCh38:
- Chr12:109792680
| TRPV4 | T599R, T492R, T552R, T565R, T539R | Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia, Brachyrachia (short spine dysplasia),
Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110230249
- GRCh38:
- Chr12:109792444
| TRPV4 | | not specified, not provided, Charcot-Marie-Tooth disease,
Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia)
| Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110230249
- GRCh38:
- Chr12:109792444
| TRPV4 | | not specified, not provided, Charcot-Marie-Tooth disease,
Scapuloperoneal spinal muscular atrophy, Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type,
Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy
| Benign/Likely benign
(Oct 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110226370
- GRCh38:
- Chr12:109788565
| TRPV4 | | not specified, Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia),
Charcot-Marie-Tooth disease, not provided, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy, Inborn genetic diseases, Scapuloperoneal spinal muscular atrophy,
Spondylometaphyseal dysplasia, Kozlowski type | Benign/Likely benign
(Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110224615
- GRCh38:
- Chr12:109786810
| TRPV4 | R746G, R686G, R699G, R639G, R712G | Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia), Charcot-Marie-Tooth disease axonal type 2C,
Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia
| Uncertain significance
(Jul 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110221525
- GRCh38:
- Chr12:109783720
| TRPV4 | | Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant congenital benign spinal muscular atrophy,
Charcot-Marie-Tooth disease | Benign/Likely benign
(Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110221375
- GRCh38:
- Chr12:109783570
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Spondylometaphyseal dysplasia, Kozlowski type, Scapuloperoneal spinal muscular atrophy,
Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia), Metatropic dysplasia
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221327
- GRCh38:
- Chr12:109783522
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia)
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221214
- GRCh38:
- Chr12:109783409
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia),
Scapuloperoneal spinal muscular atrophy, Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221196
- GRCh38:
- Chr12:109783391
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Brachyrachia (short spine dysplasia),
Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Scapuloperoneal spinal muscular atrophy
| Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221061
- GRCh38:
- Chr12:109783256
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant congenital benign spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Brachyrachia (short spine dysplasia)
| Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221048
- GRCh38:
- Chr12:109783243
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia,
Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type
| Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221021
- GRCh38:
- Chr12:109783216
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type,
Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110221003
- GRCh38:
- Chr12:109783198
| TRPV4 | | Scapuloperoneal spinal muscular atrophy, Brachyrachia (short spine dysplasia), not provided,
Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Charcot-Marie-Tooth disease axonal type 2C,
Metatropic dysplasia | Benign/Likely benign
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110220940
- GRCh38:
- Chr12:109783135
| TRPV4 | | Spondylometaphyseal dysplasia, Kozlowski type, Scapuloperoneal spinal muscular atrophy, Metatropic dysplasia,
Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia), Autosomal dominant congenital benign spinal muscular atrophy
| Benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:110230453
- GRCh38:
- Chr12:109792648
| TRPV4 | | not specified, not provided, Autosomal dominant congenital benign spinal muscular atrophy,
Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2C,
Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110232124
- GRCh38:
- Chr12:109794319
| TRPV4 | | not provided, not specified, Scapuloperoneal spinal muscular atrophy,
Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2C,
Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia
| Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110240838
- GRCh38:
- Chr12:109803033
| TRPV4 | | Metatropic dysplasia, Charcot-Marie-Tooth disease, not specified,
Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, not provided,
Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia)
| Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110221592
- GRCh38:
- Chr12:109783787
| TRPV4 | | Connective tissue disorder, Brachyrachia (short spine dysplasia), Charcot-Marie-Tooth disease,
not provided, Charcot-Marie-Tooth disease axonal type 2C, not specified,
Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110230537
- GRCh38:
- Chr12:109792732
| TRPV4 | | Connective tissue disorder, Charcot-Marie-Tooth disease, not provided,
not specified, Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases,
Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia) ...see more | Benign/Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110221482
- GRCh38:
- Chr12:109783677
| TRPV4 | D854N, D794N, D807N, D747N, D820N | Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Scapuloperoneal spinal muscular atrophy,
Metatropic dysplasia, Brachyrachia (short spine dysplasia), not provided,
Charcot-Marie-Tooth disease axonal type 2C | Uncertain significance
(Aug 23, 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:
- Chr12:110246258
- GRCh38:
- Chr12:109808453
| TRPV4 | S134R, S100R | Spondylometaphyseal dysplasia, Kozlowski type, not provided, Charcot-Marie-Tooth disease axonal type 2C,
Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy, Autosomal dominant congenital benign spinal muscular atrophy,
Metatropic dysplasia, Inborn genetic diseases | Benign/Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110232235
- GRCh38:
- Chr12:109794430
| TRPV4 | R464C, R404C, R417C, R430C, R357C | not provided, Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type,
Metatropic dysplasia, Brachyrachia (short spine dysplasia), Autosomal dominant congenital benign spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C | Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110236432
- GRCh38:
- Chr12:109798627
| TRPV4 | T380M, T346M, T333M | Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type,
Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia),
not provided, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Jul 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110252565
- GRCh38:
- Chr12:109814760
| TRPV4 | G13W | Spondylometaphyseal dysplasia, Kozlowski type, Inborn genetic diseases, not provided,
Brachyrachia (short spine dysplasia), Scapuloperoneal spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C,
Charcot-Marie-Tooth disease, Autosomal dominant congenital benign spinal muscular atrophy, Metatropic dysplasia
| Uncertain significance
(Sep 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110231780
- GRCh38:
- Chr12:109793975
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease, not provided,
Autosomal dominant congenital benign spinal muscular atrophy, Scapuloperoneal spinal muscular atrophy, Metatropic dysplasia,
Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110252521
- GRCh38:
- Chr12:109814716
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease, not provided,
Autosomal dominant congenital benign spinal muscular atrophy, not specified, Scapuloperoneal spinal muscular atrophy,
Metatropic dysplasia, Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia)
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110246277
- GRCh38:
- Chr12:109808472
| TRPV4 | | not provided, Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease,
Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Scapuloperoneal spinal muscular atrophy,
Metatropic dysplasia, Brachyrachia (short spine dysplasia), not specified
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110230568
- GRCh38:
- Chr12:109792763
| TRPV4 | I571M, I464M, I524M, I511M, I537M | Charcot-Marie-Tooth disease axonal type 2C, Connective tissue disorder, Charcot-Marie-Tooth disease,
not specified, not provided, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type, Scapuloperoneal spinal muscular atrophy,
Brachyrachia (short spine dysplasia) | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110232284
- GRCh38:
- Chr12:109794479
| TRPV4 | | Charcot-Marie-Tooth disease axonal type 2C, not specified, Autosomal dominant congenital benign spinal muscular atrophy,
not provided, Scapuloperoneal spinal muscular atrophy, Metatropic dysplasia,
Spondylometaphyseal dysplasia, Kozlowski type, Inborn genetic diseases, Brachyrachia (short spine dysplasia)
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110238466
- GRCh38:
- Chr12:109800661
| TRPV4 | | Inborn genetic diseases, Scapuloperoneal spinal muscular atrophy, Connective tissue disorder,
Charcot-Marie-Tooth disease, Metatropic dysplasia, Autosomal dominant congenital benign spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia), not provided,
Spondylometaphyseal dysplasia, Kozlowski type | Benign/Likely benign
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110222146
- GRCh38:
- Chr12:109784341
| TRPV4 | | not provided, Spondylometaphyseal dysplasia, Kozlowski type, Inborn genetic diseases,
Charcot-Marie-Tooth disease, not specified, Scapuloperoneal spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Connective tissue disorder, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia) ...see more | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110221437
- GRCh38:
- Chr12:109783632
| TRPV4 | A869T, A762T, A809T, A822T, A835T | Charcot-Marie-Tooth disease axonal type 2C, Autosomal dominant congenital benign spinal muscular atrophy, Brachyrachia (short spine dysplasia),
not provided, Scapuloperoneal spinal muscular atrophy, Connective tissue disorder,
Spondylometaphyseal dysplasia, Kozlowski type, Metatropic dysplasia, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(Nov 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:110238507
- GRCh38:
- Chr12:109800702
| TRPV4 | L257V, L223V | not provided, Scapuloperoneal spinal muscular atrophy, Inborn genetic diseases,
Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease,
not specified, Metatropic dysplasia, Brachyrachia (short spine dysplasia),
Spondylometaphyseal dysplasia, Kozlowski type | Benign/Likely benign
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110240786
- GRCh38:
- Chr12:109802981
| TRPV4 | | not specified, Charcot-Marie-Tooth disease, Autosomal dominant congenital benign spinal muscular atrophy,
Metatropic dysplasia, not provided, Scapuloperoneal spinal muscular atrophy,
Charcot-Marie-Tooth disease axonal type 2C, Spondylometaphyseal dysplasia, Kozlowski type, Brachyrachia (short spine dysplasia)
| Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110224603
- GRCh38:
- Chr12:109786798
| TRPV4 | V750I, V643I, V703I, V690I, V716I | not provided, Scapuloperoneal spinal muscular atrophy, Spondylometaphyseal dysplasia, Kozlowski type,
Brachyrachia (short spine dysplasia), Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases,
Autosomal dominant congenital benign spinal muscular atrophy, Charcot-Marie-Tooth disease, not specified,
Metatropic dysplasia | Benign/Likely benign
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:110231773
- GRCh38:
- Chr12:109793968
| TRPV4 | I516V, I482V, I409V, I456V, I469V | Brachyrachia (short spine dysplasia), Spondylometaphyseal dysplasia, Kozlowski type, Charcot-Marie-Tooth disease,
not specified, Scapuloperoneal spinal muscular atrophy, Inborn genetic diseases,
Charcot-Marie-Tooth disease axonal type 2C, not provided, Metatropic dysplasia,
Autosomal dominant congenital benign spinal muscular atrophy | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |