Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)	SNV Germline	Chr12:109792396	Pathogenic/Likely pathogenic	Brachyrachia (short spine dysplasia) Skeletal dysplasia Skeletal dysplasia Neuromuscular disease Charcot-Marie-Tooth disease axonal type 2C Condition: not provided Charcot-Marie-Tooth disease Metatropic dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA117166	rs_121912633	8 SubmittersRCV000005281 RCV000202464 RCV000202535 RCV000545248 RCV000728663 RCV001172890 RCV003992145
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)	SNV Germline	Chr12:109792695	Pathogenic/Likely pathogenic	Spondylometaphyseal dysplasia, Kozlowski type Parastremmatic dwarfism Skeletal dysplasia Neuromuscular disease Condition: not provided Charcot-Marie-Tooth disease axonal type 2C Metatropic dysplasia Neuronopathy, distal hereditary motor, autosomal dominant 8 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA117168	rs_77975504	13 SubmittersRCV000005282 RCV000005283 RCV000202560 RCV000498625 RCV000691603 RCV001618207 RCV002243623 RCV002512802
NM_021625.5(TRPV4):c.991A>T (p.Ile331Phe)	SNV Germline	Chr12:109798775	Pathogenic	Metatropic dysplasia Skeletal dysplasia	No Assertion Criteria Provided	CA117174	rs_121912636	2 SubmittersRCV000005286 RCV000202518
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)	SNV Germline	Chr12:109784378	Pathogenic	Spondyloepimetaphyseal dysplasia, Maroteaux type Metatropic dysplasia Skeletal dysplasia Inborn genetic diseases Charcot-Marie-Tooth disease axonal type 2C Parastremmatic dwarfism Condition: not provided Spondylometaphyseal dysplasia, Kozlowski type	Criteria Provided Multiple Submitters No Conflicts	CA117176	rs_121912637	12 SubmittersRCV000005288 RCV000005287 RCV000202554 RCV000624630 RCV000707315 RCV001253672 RCV001311314 RCV003388565
NM_021625.5(TRPV4):c.2395C>G (p.Pro799Ala)	SNV Germline	Chr12:109784379	Pathogenic	Metatropic dysplasia	No Assertion Criteria Provided	CA117187	rs_267607147	1 SubmittersRCV000005298
NM_021625.5(TRPV4):c.2395C>T (p.Pro799Ser)	SNV Germline	Chr12:109784379	Pathogenic	Metatropic dysplasia Skeletal dysplasia	No Assertion Criteria Provided	CA117189	rs_267607147	2 SubmittersRCV000005299 RCV000202484
NM_021625.5(TRPV4):c.2396C>G (p.Pro799Arg)	SNV Germline	Chr12:109784378	Pathogenic	Metatropic dysplasia Skeletal dysplasia Neuromuscular disease	No Assertion Criteria Provided	CA117191	rs_121912637	2 SubmittersRCV000005300 RCV000202509
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)	SNV Germline	Chr12:109784385	Pathogenic	Spondylometaphyseal dysplasia, Kozlowski type Spondyloepimetaphyseal dysplasia, Maroteaux type Metatropic dysplasia Skeletal dysplasia Neuromuscular disease Brachyrachia (short spine dysplasia) Condition: not provided Charcot-Marie-Tooth disease axonal type 2C Scapuloperoneal spinal muscular atrophy	Criteria Provided Multiple Submitters No Conflicts	CA117195	rs_267607149	7 SubmittersRCV000005303 RCV000005304 RCV000023424 RCV000202566 RCV001331193 RCV001549550 RCV001851964 RCV001823100
NM_021625.5(TRPV4):c.266C>T (p.Thr89Ile)	SNV Germline	Chr12:109814531	Pathogenic	Metatropic dysplasia Skeletal dysplasia TRPV4-related disorder	Criteria Provided Single Submitter	CA129242	rs_397514473	3 SubmittersRCV000023427 RCV000202521 RCV004549386
NM_021625.5(TRPV4):c.232G>T (p.Gly78Trp)	SNV Germline	Chr12:109814565	Pathogenic	Metatropic dysplasia Skeletal dysplasia Neuromuscular disease	No Assertion Criteria Provided	CA129247	rs_397514474	2 SubmittersRCV000023431 RCV000202458
NM_021625.5(TRPV4):c.2219C>T (p.Thr740Ile)	SNV Germline	Chr12:109786827	Pathogenic	Metatropic dysplasia Skeletal dysplasia Neuromuscular disease	No Assertion Criteria Provided	CA129251	rs_387906906	2 SubmittersRCV000023432 RCV000202544
NM_021625.5(TRPV4):c.826A>G (p.Lys276Glu)	SNV Germline	Chr12:109800645	Pathogenic	Metatropic dysplasia Skeletal dysplasia Neuromuscular disease Condition: not provided	Criteria Provided Single Submitter	CA129254	rs_387906907	3 SubmittersRCV000023433 RCV000202517 RCV000413499
NM_021625.5(TRPV4):c.1219A>G (p.Lys407Glu)	SNV Germline	Chr12:109796638	Pathogenic	Skeletal dysplasia Charcot-Marie-Tooth disease axonal type 2C Metatropic dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA347755	rs_515726153	3 SubmittersRCV000202504 RCV001854531 RCV001804841
NM_021625.5(TRPV4):c.1853T>C (p.Leu618Pro)	SNV Germline	Chr12:109792401	Pathogenic	Skeletal dysplasia Metatropic dysplasia Condition: not provided	Criteria Provided Single Submitter	CA347744	rs_515726163	4 SubmittersRCV000202495 RCV000755170 RCV000497423
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)	SNV Germline	Chr12:109783632	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2C Condition: not provided Spondylometaphyseal dysplasia, Kozlowski type Brachyrachia (short spine dysplasia) Scapuloperoneal spinal muscular atrophy Neuronopathy, distal hereditary motor, autosomal dominant 8 Metatropic dysplasia Connective tissue disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA337233	rs_138396764	5 SubmittersRCV000197485 RCV000215795 RCV000269145 RCV000339075 RCV000399774 RCV000310273 RCV000363721 RCV002277550 RCV002519574
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)	SNV Germline	Chr12:109793968	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2C Metatropic dysplasia Spondylometaphyseal dysplasia, Kozlowski type Scapuloperoneal spinal muscular atrophy Neuronopathy, distal hereditary motor, autosomal dominant 8 Brachyrachia (short spine dysplasia) not specified Charcot-Marie-Tooth disease Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA338755	rs_115976458	9 SubmittersRCV000199632 RCV000278046 RCV000293468 RCV000328738 RCV000332180 RCV000389025 RCV000592513 RCV001174133 RCV001701706 RCV002399742
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys)	SNV Germline	Chr12:109794430	Conflicting classifications of pathogenicity	Condition: not provided Neuronopathy, distal hereditary motor, autosomal dominant 8 Metatropic dysplasia Spondylometaphyseal dysplasia, Kozlowski type Brachyrachia (short spine dysplasia) Scapuloperoneal spinal muscular atrophy Charcot-Marie-Tooth disease axonal type 2C Tip-toe gait	Criteria Provided Conflicting Classifications	CA6780254	rs_373049874	6 SubmittersRCV000235458 RCV000284090 RCV000344778 RCV000341387 RCV000287694 RCV000405687 RCV000645552 RCV003320357
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met)	SNV Germline	Chr12:109798627	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease axonal type 2C Scapuloperoneal spinal muscular atrophy Brachyrachia (short spine dysplasia) Neuronopathy, distal hereditary motor, autosomal dominant 8 Spondylometaphyseal dysplasia, Kozlowski type Metatropic dysplasia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6780342	rs_764949536	7 SubmittersRCV000236449 RCV000461756 RCV001109754 RCV001109755 RCV001109756 RCV001109757 RCV001109753 RCV002321903
NM_021625.5(TRPV4):c.1491+10C>T	SNV Germline	Chr12:109794319	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, autosomal dominant 8 Scapuloperoneal spinal muscular atrophy Metatropic dysplasia Brachyrachia (short spine dysplasia) not specified Spondylometaphyseal dysplasia, Kozlowski type Condition: not provided Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease TRPV4-related disorder	Criteria Provided Conflicting Classifications	CA6780225	rs_201815805	8 SubmittersRCV000273307 RCV000308460 RCV000330168 RCV000365568 RCV000382061 RCV000400610 RCV000725182 RCV001085943 RCV001174119 RCV004547674
NM_021625.5(TRPV4):c.1211G>A (p.Arg404His)	SNV Germline	Chr12:109796646	Conflicting classifications of pathogenicity	Scapuloperoneal spinal muscular atrophy Spondylometaphyseal dysplasia, Kozlowski type Metatropic dysplasia Neuronopathy, distal hereditary motor, autosomal dominant 8 Brachyrachia (short spine dysplasia) Charcot-Marie-Tooth disease axonal type 2C Condition: not provided	Criteria Provided Conflicting Classifications	CA6780303	rs_377257364	4 SubmittersRCV000281928 RCV000297089 RCV000336787 RCV000351981 RCV000396047 RCV000396046 RCV000596388
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu)	SNV Germline	Chr12:109814592	Conflicting classifications of pathogenicity	Spondylometaphyseal dysplasia, Kozlowski type Brachyrachia (short spine dysplasia) Scapuloperoneal spinal muscular atrophy Neuronopathy, distal hereditary motor, autosomal dominant 8 Metatropic dysplasia Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease Connective tissue disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6780592	rs_200199102	5 SubmittersRCV000264430 RCV000326640 RCV000366323 RCV000309318 RCV000360409 RCV000792477 RCV001172892 RCV002278390 RCV002418158
NM_021625.5(TRPV4):c.963C>A (p.Gly321=)	SNV Germline	Chr12:109798803	Conflicting classifications of pathogenicity	Metatropic dysplasia Brachyrachia (short spine dysplasia) Charcot-Marie-Tooth disease axonal type 2C Scapuloperoneal spinal muscular atrophy Neuronopathy, distal hereditary motor, autosomal dominant 8 Spondylometaphyseal dysplasia, Kozlowski type Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA6780378	rs_148534854	4 SubmittersRCV000292008 RCV000295579 RCV000335363 RCV000350404 RCV000389848 RCV000402464 RCV002374524 RCV003391080
NM_021625.5(TRPV4):c.1825-15C>G	SNV Germline	Chr12:109792444	Conflicting classifications of pathogenicity	Brachyrachia (short spine dysplasia) Spondylometaphyseal dysplasia, Kozlowski type Metatropic dysplasia Charcot-Marie-Tooth disease axonal type 2C Neuronopathy, distal hereditary motor, autosomal dominant 8 not specified Scapuloperoneal spinal muscular atrophy Charcot-Marie-Tooth disease Condition: not provided	Criteria Provided Conflicting Classifications	CA6780084	rs_200602134	5 SubmittersRCV000259297 RCV000283684 RCV000316890 RCV000340970 RCV000375912 RCV000434806 RCV000388794 RCV001174132 RCV001812795
NM_021625.5(TRPV4):c.650C>T (p.Ala217Val)	SNV Germline	Chr12:109803053	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, autosomal dominant 8 Spondylometaphyseal dysplasia, Kozlowski type Brachyrachia (short spine dysplasia) Scapuloperoneal spinal muscular atrophy Metatropic dysplasia Charcot-Marie-Tooth disease axonal type 2C	Criteria Provided Conflicting Classifications	CA6780484	rs_548909101	2 SubmittersRCV000304424 RCV000344222 RCV000348635 RCV000404003 RCV000394932 RCV001052550
NM_021625.5(TRPV4):c.171T>C (p.Pro57=)	SNV Germline	Chr12:109814626	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2C Scapuloperoneal spinal muscular atrophy Metatropic dysplasia Spondylometaphyseal dysplasia, Kozlowski type Neuronopathy, distal hereditary motor, autosomal dominant 8 Brachyrachia (short spine dysplasia) Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10640901	rs_886048941	2 SubmittersRCV000263321 RCV000294966 RCV000315912 RCV000321831 RCV000372893 RCV000374276 RCV002411200
NM_021625.5(TRPV4):c.1207T>A (p.Ser403Thr)	SNV Germline	Chr12:109796650	Pathogenic	Metatropic dysplasia	No Assertion Criteria Provided		rs_1565868973	1 SubmittersRCV000735909
NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=)	SNV Germline	Chr12:109798728	Conflicting classifications of pathogenicity	not specified Spondylometaphyseal dysplasia, Kozlowski type Charcot-Marie-Tooth disease axonal type 2C Neuronopathy, distal hereditary motor, autosomal dominant 8 Brachyrachia (short spine dysplasia) Metatropic dysplasia Scapuloperoneal spinal muscular atrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6780365	rs_750086412	4 SubmittersRCV000423115 RCV001112518 RCV001112517 RCV001112514 RCV001112515 RCV001112516 RCV001113853 RCV002393013
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)	SNV Germline	Chr12:109808332	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2C Condition: not provided Metatropic dysplasia Spondylometaphyseal dysplasia, Kozlowski type Charcot-Marie-Tooth disease Brachyrachia (short spine dysplasia) Scapuloperoneal spinal muscular atrophy Neuronopathy, distal hereditary motor, autosomal dominant 8 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6780524	rs_146304351	7 SubmittersRCV000684901 RCV000994976 RCV001114214 RCV001114216 RCV001173247 RCV001112861 RCV001114213 RCV001114215 RCV002341214
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter)	SNV Germline	Chr12:109798808	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease type 4 Neuronopathy, distal hereditary motor, autosomal dominant 8 Spondylometaphyseal dysplasia, Kozlowski type Condition: not provided Brachyrachia (short spine dysplasia) Metatropic dysplasia Inborn genetic diseases Scapuloperoneal spinal muscular atrophy Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA6780379	rs_142902080	9 SubmittersRCV000551761 RCV000856931 RCV001109835 RCV001109837 RCV001508337 RCV001109833 RCV001109834 RCV002384176 RCV001109836 RCV001173240
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)	SNV Germline	Chr12:109786742	Conflicting classifications of pathogenicity	Condition: not provided Charcot-Marie-Tooth disease axonal type 2C Scapuloperoneal spinal muscular atrophy Spondylometaphyseal dysplasia, Kozlowski type Metatropic dysplasia Neuronopathy, distal hereditary motor, autosomal dominant 8 Brachyrachia (short spine dysplasia) Charcot-Marie-Tooth disease Connective tissue disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6779967	rs_138986228	10 SubmittersRCV000713881 RCV001087967 RCV001109154 RCV001114788 RCV001114789 RCV001114790 RCV001114791 RCV001173506 RCV002279378 RCV002448832
NM_021625.5(TRPV4):c.651G>A (p.Ala217=)	SNV Germline	Chr12:109803052	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2C Neuronopathy, distal hereditary motor, autosomal dominant 8 Metatropic dysplasia Brachyrachia (short spine dysplasia) Scapuloperoneal spinal muscular atrophy Spondylometaphyseal dysplasia, Kozlowski type Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6780483	rs_371280831	4 SubmittersRCV000696233 RCV001114138 RCV001114139 RCV001114135 RCV001114136 RCV001114137 RCV001698442 RCV002360479
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe)	SNV Germline	Chr12:109792776	Conflicting classifications of pathogenicity	Inborn genetic diseases Neuronopathy, distal hereditary motor, autosomal dominant 8 Metatropic dysplasia Charcot-Marie-Tooth disease Spondylometaphyseal dysplasia, Kozlowski type Scapuloperoneal spinal muscular atrophy Brachyrachia (short spine dysplasia) Charcot-Marie-Tooth disease axonal type 2C Condition: not provided	Criteria Provided Conflicting Classifications	CA6780113	rs_763889344	5 SubmittersRCV000622373 RCV001112152 RCV001115110 RCV001173262 RCV001112153 RCV001115109 RCV001115111 RCV001112154 RCV001797114
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys)	SNV Germline	Chr12:109786726	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease Brachyrachia (short spine dysplasia) Scapuloperoneal spinal muscular atrophy Neuronopathy, distal hereditary motor, autosomal dominant 8 Spondylometaphyseal dysplasia, Kozlowski type Metatropic dysplasia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA6779965	rs_145102919	4 SubmittersRCV000645535 RCV000856929 RCV001113399 RCV001113400 RCV001114786 RCV001114787 RCV001113398 RCV002458090
NM_021625.5(TRPV4):c.1729G>A (p.Val577Met)	SNV Germline	Chr12:109792747	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2C Metatropic dysplasia Brachyrachia (short spine dysplasia) Scapuloperoneal spinal muscular atrophy Spondylometaphyseal dysplasia, Kozlowski type Inborn genetic diseases Neuronopathy, distal hereditary motor, autosomal dominant 8	Criteria Provided Conflicting Classifications		rs_140535889	3 SubmittersRCV000706756 RCV001111686 RCV001111687 RCV001111688 RCV001111689 RCV002397486 RCV001111685
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=)	SNV Germline	Chr12:109793930	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2C Scapuloperoneal spinal muscular atrophy Metatropic dysplasia Brachyrachia (short spine dysplasia) Spondylometaphyseal dysplasia, Kozlowski type Neuronopathy, distal hereditary motor, autosomal dominant 8 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_142749412	4 SubmittersRCV000701000 RCV001112237 RCV001112238 RCV001112239 RCV001112240 RCV001113588 RCV002397450 RCV003117496
NM_021625.5(TRPV4):c.1465G>A (p.Ala489Thr)	SNV Germline	Chr12:109794355	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2C Metatropic dysplasia Scapuloperoneal spinal muscular atrophy Spondylometaphyseal dysplasia, Kozlowski type Brachyrachia (short spine dysplasia) Neuronopathy, distal hereditary motor, autosomal dominant 8	Criteria Provided Conflicting Classifications		rs_758280554	2 SubmittersRCV000707444 RCV001111859 RCV001112323 RCV001111860 RCV001111861 RCV001111862
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=)	SNV Germline	Chr12:109784335	Conflicting classifications of pathogenicity	Condition: not provided Scapuloperoneal spinal muscular atrophy Charcot-Marie-Tooth disease axonal type 2C Metatropic dysplasia Spondylometaphyseal dysplasia, Kozlowski type Neuronopathy, distal hereditary motor, autosomal dominant 8 Brachyrachia (short spine dysplasia)	Criteria Provided Conflicting Classifications		rs_545589086	3 SubmittersRCV000842268 RCV001109047 RCV001109048 RCV001109050 RCV001111390 RCV001109049 RCV001109051
NM_021625.5(TRPV4):c.2391G>C (p.Glu797Asp)	SNV Germline	Chr12:109784383	Likely pathogenic	Metatropic dysplasia	Criteria Provided Single Submitter		rs_781358829	1 SubmittersRCV001256207
NM_021625.5(TRPV4):c.2433G>A (p.Ser811=)	SNV Germline	Chr12:109784341	Conflicting classifications of pathogenicity	Neuronopathy, distal hereditary motor, autosomal dominant 8 Brachyrachia (short spine dysplasia) Spondylometaphyseal dysplasia, Kozlowski type Scapuloperoneal spinal muscular atrophy Metatropic dysplasia Charcot-Marie-Tooth disease axonal type 2C	Criteria Provided Conflicting Classifications		rs_34071623	2 SubmittersRCV001111391 RCV001113393 RCV001113394 RCV001113395 RCV001113397 RCV001113396
NM_021625.5(TRPV4):c.812G>A (p.Arg271His)	SNV Germline	Chr12:109800659	Conflicting classifications of pathogenicity	Scapuloperoneal spinal muscular atrophy Charcot-Marie-Tooth disease axonal type 2C Neuronopathy, distal hereditary motor, autosomal dominant 8 Metatropic dysplasia Spondylometaphyseal dysplasia, Kozlowski type Brachyrachia (short spine dysplasia) Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_387907219	3 SubmittersRCV001113950 RCV001113951 RCV001113952 RCV001112611 RCV001113949 RCV001113948 RCV002418583
NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys)	SNV Germline	Chr12:109800729	Conflicting classifications of pathogenicity	Metatropic dysplasia Brachyrachia (short spine dysplasia) Scapuloperoneal spinal muscular atrophy Neuronopathy, distal hereditary motor, autosomal dominant 8 Spondylometaphyseal dysplasia, Kozlowski type Charcot-Marie-Tooth disease axonal type 2C Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_370289434	3 SubmittersRCV001110014 RCV001110015 RCV001110010 RCV001110012 RCV001110011 RCV001110013 RCV002379651
NM_021625.5(TRPV4):c.195A>G (p.Pro65=)	SNV Germline	Chr12:109814602	Conflicting classifications of pathogenicity	Charcot-Marie-Tooth disease axonal type 2C Neuronopathy, distal hereditary motor, autosomal dominant 8 Scapuloperoneal spinal muscular atrophy Spondylometaphyseal dysplasia, Kozlowski type Metatropic dysplasia Brachyrachia (short spine dysplasia)	Criteria Provided Conflicting Classifications		rs_1891742510	2 SubmittersRCV001110280 RCV001111030 RCV001111031 RCV001111027 RCV001111028 RCV001111029
NM_021625.5(TRPV4):c.2324G>A (p.Arg775Lys)	SNV Germline	Chr12:109786722	Likely pathogenic	Metatropic dysplasia	Criteria Provided Single Submitter		rs_2136430908	1 SubmittersRCV001806357
NM_021625.5(TRPV4):c.2353T>C (p.Trp785Arg)	SNV Germline	Chr12:109784421	Likely pathogenic	Metatropic dysplasia	Criteria Provided Single Submitter		rs_2136417904	1 SubmittersRCV002238712
NM_021625.5(TRPV4):c.1628T>G (p.Leu543Arg)	SNV Germline	Chr12:109793557	Likely pathogenic	Metatropic dysplasia	Criteria Provided Single Submitter		rs_2136475122	1 SubmittersRCV002238713
NM_021625.5(TRPV4):c.688C>T (p.Pro230Ser)	SNV Germline	Chr12:109803015	Likely pathogenic	Metatropic dysplasia	No Assertion Criteria Provided			1 SubmittersRCV003330372

NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)

SNV
Germline

Chr12:109792396

Pathogenic/Likely pathogenic

Brachyrachia (short spine dysplasia)
Skeletal dysplasia
Skeletal dysplasia
Neuromuscular disease
Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided
Charcot-Marie-Tooth disease
Metatropic dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA117166

rs_121912633

8 SubmittersRCV000005281 RCV000202464 RCV000202535 RCV000545248 RCV000728663 RCV001172890 RCV003992145

NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)

SNV
Germline

Chr12:109792695

Pathogenic/Likely pathogenic

Spondylometaphyseal dysplasia, Kozlowski type
Parastremmatic dwarfism
Skeletal dysplasia
Neuromuscular disease
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Metatropic dysplasia
Neuronopathy, distal hereditary motor, autosomal dominant 8
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA117168

rs_77975504

13 SubmittersRCV000005282 RCV000005283 RCV000202560 RCV000498625 RCV000691603 RCV001618207 RCV002243623 RCV002512802

NM_021625.5(TRPV4):c.991A>T (p.Ile331Phe)

SNV
Germline

Chr12:109798775

Pathogenic

Metatropic dysplasia
Skeletal dysplasia

No Assertion Criteria Provided

CA117174

rs_121912636

2 SubmittersRCV000005286 RCV000202518

NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)

SNV
Germline

Chr12:109784378

Pathogenic

Spondyloepimetaphyseal dysplasia, Maroteaux type
Metatropic dysplasia
Skeletal dysplasia
Inborn genetic diseases
Charcot-Marie-Tooth disease axonal type 2C
Parastremmatic dwarfism
Condition: not provided
Spondylometaphyseal dysplasia, Kozlowski type

Criteria Provided
Multiple Submitters
No Conflicts

CA117176

rs_121912637

12 SubmittersRCV000005288 RCV000005287 RCV000202554 RCV000624630 RCV000707315 RCV001253672 RCV001311314 RCV003388565

NM_021625.5(TRPV4):c.2395C>G (p.Pro799Ala)

SNV
Germline

Chr12:109784379

Pathogenic

Metatropic dysplasia

No Assertion Criteria Provided

CA117187

rs_267607147

1 SubmittersRCV000005298

NM_021625.5(TRPV4):c.2395C>T (p.Pro799Ser)

SNV
Germline

Chr12:109784379

Pathogenic

Metatropic dysplasia
Skeletal dysplasia

No Assertion Criteria Provided

CA117189

rs_267607147

2 SubmittersRCV000005299 RCV000202484

NM_021625.5(TRPV4):c.2396C>G (p.Pro799Arg)

SNV
Germline

Chr12:109784378

Pathogenic

Metatropic dysplasia
Skeletal dysplasia
Neuromuscular disease

No Assertion Criteria Provided

CA117191

rs_121912637

2 SubmittersRCV000005300 RCV000202509

NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)

SNV
Germline

Chr12:109784385

Pathogenic

Spondylometaphyseal dysplasia, Kozlowski type
Spondyloepimetaphyseal dysplasia, Maroteaux type
Metatropic dysplasia
Skeletal dysplasia
Neuromuscular disease
Brachyrachia (short spine dysplasia)
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA117195

rs_267607149

7 SubmittersRCV000005303 RCV000005304 RCV000023424 RCV000202566 RCV001331193 RCV001549550 RCV001851964 RCV001823100

NM_021625.5(TRPV4):c.266C>T (p.Thr89Ile)

SNV
Germline

Chr12:109814531

Pathogenic

Metatropic dysplasia
Skeletal dysplasia
TRPV4-related disorder

Criteria Provided
Single Submitter

CA129242

rs_397514473

3 SubmittersRCV000023427 RCV000202521 RCV004549386

NM_021625.5(TRPV4):c.232G>T (p.Gly78Trp)

SNV
Germline

Chr12:109814565

Pathogenic

Metatropic dysplasia
Skeletal dysplasia
Neuromuscular disease

No Assertion Criteria Provided

CA129247

rs_397514474

2 SubmittersRCV000023431 RCV000202458

NM_021625.5(TRPV4):c.2219C>T (p.Thr740Ile)

SNV
Germline

Chr12:109786827

Pathogenic

Metatropic dysplasia
Skeletal dysplasia
Neuromuscular disease

No Assertion Criteria Provided

CA129251

rs_387906906

2 SubmittersRCV000023432 RCV000202544

NM_021625.5(TRPV4):c.826A>G (p.Lys276Glu)

SNV
Germline

Chr12:109800645

Pathogenic

Metatropic dysplasia
Skeletal dysplasia
Neuromuscular disease
Condition: not provided

Criteria Provided
Single Submitter

CA129254

rs_387906907

3 SubmittersRCV000023433 RCV000202517 RCV000413499

NM_021625.5(TRPV4):c.1219A>G (p.Lys407Glu)

SNV
Germline

Chr12:109796638

Pathogenic

Skeletal dysplasia
Charcot-Marie-Tooth disease axonal type 2C
Metatropic dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA347755

rs_515726153

3 SubmittersRCV000202504 RCV001854531 RCV001804841

NM_021625.5(TRPV4):c.1853T>C (p.Leu618Pro)

SNV
Germline

Chr12:109792401

Pathogenic

Skeletal dysplasia
Metatropic dysplasia
Condition: not provided

Criteria Provided
Single Submitter

CA347744

rs_515726163

4 SubmittersRCV000202495 RCV000755170 RCV000497423

NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)

SNV
Germline

Chr12:109783632

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided
Spondylometaphyseal dysplasia, Kozlowski type
Brachyrachia (short spine dysplasia)
Scapuloperoneal spinal muscular atrophy
Neuronopathy, distal hereditary motor, autosomal dominant 8
Metatropic dysplasia
Connective tissue disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA337233

rs_138396764

5 SubmittersRCV000197485 RCV000215795 RCV000269145 RCV000339075 RCV000399774 RCV000310273 RCV000363721 RCV002277550 RCV002519574

NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)

SNV
Germline

Chr12:109793968

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Metatropic dysplasia
Spondylometaphyseal dysplasia, Kozlowski type
Scapuloperoneal spinal muscular atrophy
Neuronopathy, distal hereditary motor, autosomal dominant 8
Brachyrachia (short spine dysplasia)
not specified
Charcot-Marie-Tooth disease
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA338755

rs_115976458

9 SubmittersRCV000199632 RCV000278046 RCV000293468 RCV000328738 RCV000332180 RCV000389025 RCV000592513 RCV001174133 RCV001701706 RCV002399742

NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys)

SNV
Germline

Chr12:109794430

Conflicting classifications of pathogenicity

Condition: not provided
Neuronopathy, distal hereditary motor, autosomal dominant 8
Metatropic dysplasia
Spondylometaphyseal dysplasia, Kozlowski type
Brachyrachia (short spine dysplasia)
Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2C
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA6780254

rs_373049874

6 SubmittersRCV000235458 RCV000284090 RCV000344778 RCV000341387 RCV000287694 RCV000405687 RCV000645552 RCV003320357

NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met)

SNV
Germline

Chr12:109798627

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Brachyrachia (short spine dysplasia)
Neuronopathy, distal hereditary motor, autosomal dominant 8
Spondylometaphyseal dysplasia, Kozlowski type
Metatropic dysplasia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780342

rs_764949536

7 SubmittersRCV000236449 RCV000461756 RCV001109754 RCV001109755 RCV001109756 RCV001109757 RCV001109753 RCV002321903

NM_021625.5(TRPV4):c.1491+10C>T

SNV
Germline

Chr12:109794319

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal dominant 8
Scapuloperoneal spinal muscular atrophy
Metatropic dysplasia
Brachyrachia (short spine dysplasia)
not specified
Spondylometaphyseal dysplasia, Kozlowski type
Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease
TRPV4-related disorder

Criteria Provided
Conflicting Classifications

CA6780225

rs_201815805

8 SubmittersRCV000273307 RCV000308460 RCV000330168 RCV000365568 RCV000382061 RCV000400610 RCV000725182 RCV001085943 RCV001174119 RCV004547674

NM_021625.5(TRPV4):c.1211G>A (p.Arg404His)

SNV
Germline

Chr12:109796646

Conflicting classifications of pathogenicity

Scapuloperoneal spinal muscular atrophy
Spondylometaphyseal dysplasia, Kozlowski type
Metatropic dysplasia
Neuronopathy, distal hereditary motor, autosomal dominant 8
Brachyrachia (short spine dysplasia)
Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6780303

rs_377257364

4 SubmittersRCV000281928 RCV000297089 RCV000336787 RCV000351981 RCV000396047 RCV000396046 RCV000596388

NM_021625.5(TRPV4):c.205A>C (p.Met69Leu)

SNV
Germline

Chr12:109814592

Conflicting classifications of pathogenicity

Spondylometaphyseal dysplasia, Kozlowski type
Brachyrachia (short spine dysplasia)
Scapuloperoneal spinal muscular atrophy
Neuronopathy, distal hereditary motor, autosomal dominant 8
Metatropic dysplasia
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease
Connective tissue disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780592

rs_200199102

5 SubmittersRCV000264430 RCV000326640 RCV000366323 RCV000309318 RCV000360409 RCV000792477 RCV001172892 RCV002278390 RCV002418158

NM_021625.5(TRPV4):c.963C>A (p.Gly321=)

SNV
Germline

Chr12:109798803

Conflicting classifications of pathogenicity

Metatropic dysplasia
Brachyrachia (short spine dysplasia)
Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Neuronopathy, distal hereditary motor, autosomal dominant 8
Spondylometaphyseal dysplasia, Kozlowski type
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6780378

rs_148534854

4 SubmittersRCV000292008 RCV000295579 RCV000335363 RCV000350404 RCV000389848 RCV000402464 RCV002374524 RCV003391080

NM_021625.5(TRPV4):c.1825-15C>G

SNV
Germline

Chr12:109792444

Conflicting classifications of pathogenicity

Brachyrachia (short spine dysplasia)
Spondylometaphyseal dysplasia, Kozlowski type
Metatropic dysplasia
Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8
not specified
Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6780084

rs_200602134

5 SubmittersRCV000259297 RCV000283684 RCV000316890 RCV000340970 RCV000375912 RCV000434806 RCV000388794 RCV001174132 RCV001812795

NM_021625.5(TRPV4):c.650C>T (p.Ala217Val)

SNV
Germline

Chr12:109803053

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal dominant 8
Spondylometaphyseal dysplasia, Kozlowski type
Brachyrachia (short spine dysplasia)
Scapuloperoneal spinal muscular atrophy
Metatropic dysplasia
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Conflicting Classifications

CA6780484

rs_548909101

2 SubmittersRCV000304424 RCV000344222 RCV000348635 RCV000404003 RCV000394932 RCV001052550

NM_021625.5(TRPV4):c.171T>C (p.Pro57=)

SNV
Germline

Chr12:109814626

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Metatropic dysplasia
Spondylometaphyseal dysplasia, Kozlowski type
Neuronopathy, distal hereditary motor, autosomal dominant 8
Brachyrachia (short spine dysplasia)
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10640901

rs_886048941

2 SubmittersRCV000263321 RCV000294966 RCV000315912 RCV000321831 RCV000372893 RCV000374276 RCV002411200

NM_021625.5(TRPV4):c.1207T>A (p.Ser403Thr)

SNV
Germline

Chr12:109796650

Pathogenic

Metatropic dysplasia

No Assertion Criteria Provided

rs_1565868973

1 SubmittersRCV000735909

NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=)

SNV
Germline

Chr12:109798728

Conflicting classifications of pathogenicity

not specified
Spondylometaphyseal dysplasia, Kozlowski type
Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8
Brachyrachia (short spine dysplasia)
Metatropic dysplasia
Scapuloperoneal spinal muscular atrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780365

rs_750086412

4 SubmittersRCV000423115 RCV001112518 RCV001112517 RCV001112514 RCV001112515 RCV001112516 RCV001113853 RCV002393013

NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)

SNV
Germline

Chr12:109808332

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided
Metatropic dysplasia
Spondylometaphyseal dysplasia, Kozlowski type
Charcot-Marie-Tooth disease
Brachyrachia (short spine dysplasia)
Scapuloperoneal spinal muscular atrophy
Neuronopathy, distal hereditary motor, autosomal dominant 8
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780524

rs_146304351

7 SubmittersRCV000684901 RCV000994976 RCV001114214 RCV001114216 RCV001173247 RCV001112861 RCV001114213 RCV001114215 RCV002341214

NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter)

SNV
Germline

Chr12:109798808

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease type 4
Neuronopathy, distal hereditary motor, autosomal dominant 8
Spondylometaphyseal dysplasia, Kozlowski type
Condition: not provided
Brachyrachia (short spine dysplasia)
Metatropic dysplasia
Inborn genetic diseases
Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA6780379

rs_142902080

9 SubmittersRCV000551761 RCV000856931 RCV001109835 RCV001109837 RCV001508337 RCV001109833 RCV001109834 RCV002384176 RCV001109836 RCV001173240

NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)

SNV
Germline

Chr12:109786742

Conflicting classifications of pathogenicity

Condition: not provided
Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Spondylometaphyseal dysplasia, Kozlowski type
Metatropic dysplasia
Neuronopathy, distal hereditary motor, autosomal dominant 8
Brachyrachia (short spine dysplasia)
Charcot-Marie-Tooth disease
Connective tissue disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6779967

rs_138986228

10 SubmittersRCV000713881 RCV001087967 RCV001109154 RCV001114788 RCV001114789 RCV001114790 RCV001114791 RCV001173506 RCV002279378 RCV002448832

NM_021625.5(TRPV4):c.651G>A (p.Ala217=)

SNV
Germline

Chr12:109803052

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8
Metatropic dysplasia
Brachyrachia (short spine dysplasia)
Scapuloperoneal spinal muscular atrophy
Spondylometaphyseal dysplasia, Kozlowski type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6780483

rs_371280831

4 SubmittersRCV000696233 RCV001114138 RCV001114139 RCV001114135 RCV001114136 RCV001114137 RCV001698442 RCV002360479

NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe)

SNV
Germline

Chr12:109792776

Conflicting classifications of pathogenicity

Inborn genetic diseases
Neuronopathy, distal hereditary motor, autosomal dominant 8
Metatropic dysplasia
Charcot-Marie-Tooth disease
Spondylometaphyseal dysplasia, Kozlowski type
Scapuloperoneal spinal muscular atrophy
Brachyrachia (short spine dysplasia)
Charcot-Marie-Tooth disease axonal type 2C
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6780113

rs_763889344

5 SubmittersRCV000622373 RCV001112152 RCV001115110 RCV001173262 RCV001112153 RCV001115109 RCV001115111 RCV001112154 RCV001797114

NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys)

SNV
Germline

Chr12:109786726

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease
Brachyrachia (short spine dysplasia)
Scapuloperoneal spinal muscular atrophy
Neuronopathy, distal hereditary motor, autosomal dominant 8
Spondylometaphyseal dysplasia, Kozlowski type
Metatropic dysplasia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA6779965

rs_145102919

4 SubmittersRCV000645535 RCV000856929 RCV001113399 RCV001113400 RCV001114786 RCV001114787 RCV001113398 RCV002458090

NM_021625.5(TRPV4):c.1729G>A (p.Val577Met)

SNV
Germline

Chr12:109792747

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Metatropic dysplasia
Brachyrachia (short spine dysplasia)
Scapuloperoneal spinal muscular atrophy
Spondylometaphyseal dysplasia, Kozlowski type
Inborn genetic diseases
Neuronopathy, distal hereditary motor, autosomal dominant 8

Criteria Provided
Conflicting Classifications

rs_140535889

3 SubmittersRCV000706756 RCV001111686 RCV001111687 RCV001111688 RCV001111689 RCV002397486 RCV001111685

NM_021625.5(TRPV4):c.1584C>T (p.Asn528=)

SNV
Germline

Chr12:109793930

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Scapuloperoneal spinal muscular atrophy
Metatropic dysplasia
Brachyrachia (short spine dysplasia)
Spondylometaphyseal dysplasia, Kozlowski type
Neuronopathy, distal hereditary motor, autosomal dominant 8
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_142749412

4 SubmittersRCV000701000 RCV001112237 RCV001112238 RCV001112239 RCV001112240 RCV001113588 RCV002397450 RCV003117496

NM_021625.5(TRPV4):c.1465G>A (p.Ala489Thr)

SNV
Germline

Chr12:109794355

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Metatropic dysplasia
Scapuloperoneal spinal muscular atrophy
Spondylometaphyseal dysplasia, Kozlowski type
Brachyrachia (short spine dysplasia)
Neuronopathy, distal hereditary motor, autosomal dominant 8

Criteria Provided
Conflicting Classifications

rs_758280554

2 SubmittersRCV000707444 RCV001111859 RCV001112323 RCV001111860 RCV001111861 RCV001111862

NM_021625.5(TRPV4):c.2439C>T (p.Thr813=)

SNV
Germline

Chr12:109784335

Conflicting classifications of pathogenicity

Condition: not provided
Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2C
Metatropic dysplasia
Spondylometaphyseal dysplasia, Kozlowski type
Neuronopathy, distal hereditary motor, autosomal dominant 8
Brachyrachia (short spine dysplasia)

Criteria Provided
Conflicting Classifications

rs_545589086

3 SubmittersRCV000842268 RCV001109047 RCV001109048 RCV001109050 RCV001111390 RCV001109049 RCV001109051

NM_021625.5(TRPV4):c.2391G>C (p.Glu797Asp)

SNV
Germline

Chr12:109784383

Likely pathogenic

Metatropic dysplasia

Criteria Provided
Single Submitter

rs_781358829

1 SubmittersRCV001256207

NM_021625.5(TRPV4):c.2433G>A (p.Ser811=)

SNV
Germline

Chr12:109784341

Conflicting classifications of pathogenicity

Neuronopathy, distal hereditary motor, autosomal dominant 8
Brachyrachia (short spine dysplasia)
Spondylometaphyseal dysplasia, Kozlowski type
Scapuloperoneal spinal muscular atrophy
Metatropic dysplasia
Charcot-Marie-Tooth disease axonal type 2C

Criteria Provided
Conflicting Classifications

rs_34071623

2 SubmittersRCV001111391 RCV001113393 RCV001113394 RCV001113395 RCV001113397 RCV001113396

NM_021625.5(TRPV4):c.812G>A (p.Arg271His)

SNV
Germline

Chr12:109800659

Conflicting classifications of pathogenicity

Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8
Metatropic dysplasia
Spondylometaphyseal dysplasia, Kozlowski type
Brachyrachia (short spine dysplasia)
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_387907219

3 SubmittersRCV001113950 RCV001113951 RCV001113952 RCV001112611 RCV001113949 RCV001113948 RCV002418583

NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys)

SNV
Germline

Chr12:109800729

Conflicting classifications of pathogenicity

Metatropic dysplasia
Brachyrachia (short spine dysplasia)
Scapuloperoneal spinal muscular atrophy
Neuronopathy, distal hereditary motor, autosomal dominant 8
Spondylometaphyseal dysplasia, Kozlowski type
Charcot-Marie-Tooth disease axonal type 2C
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_370289434

3 SubmittersRCV001110014 RCV001110015 RCV001110010 RCV001110012 RCV001110011 RCV001110013 RCV002379651

NM_021625.5(TRPV4):c.195A>G (p.Pro65=)

SNV
Germline

Chr12:109814602

Conflicting classifications of pathogenicity

Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy, distal hereditary motor, autosomal dominant 8
Scapuloperoneal spinal muscular atrophy
Spondylometaphyseal dysplasia, Kozlowski type
Metatropic dysplasia
Brachyrachia (short spine dysplasia)

Criteria Provided
Conflicting Classifications

rs_1891742510

2 SubmittersRCV001110280 RCV001111030 RCV001111031 RCV001111027 RCV001111028 RCV001111029

NM_021625.5(TRPV4):c.2324G>A (p.Arg775Lys)

SNV
Germline

Chr12:109786722

Likely pathogenic

Metatropic dysplasia

Criteria Provided
Single Submitter

rs_2136430908

1 SubmittersRCV001806357

NM_021625.5(TRPV4):c.2353T>C (p.Trp785Arg)