Trpv4 Variant Search Result - Rat Genome Database

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8569099	CV44188	single nucleotide variant	TRPV4, PHE273LEU	Digital arthropathy-brachydactyly, familial [RCV000029172]	pathogenic				Human		name
8558419	CV33472	deletion	TRPV4, 3-BP DEL, 1411TTC	Metatropic dysplasia [RCV000005301]	pathogenic				Human		name
12835026	CV372799	single nucleotide variant	NM_021625.5(TRPV4):c.*8A>C	TRPV4-related disorder [RCV004551499]\|not provided [RCV001721455]	likely benign	12	109783613	109783613	Human		name , alternate_id
12837166	CV372801	single nucleotide variant	NM_021625.5(TRPV4):c.*1G>A	not specified [RCV000424697]	likely benign	12	109783620	109783620	Human		name
28869655	CV869236	single nucleotide variant	NM_021625.5(TRPV4):c.*2G>A	Brachyrachia (short spine dysplasia) [RCV001114572]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001113208]\|Metatropic dysplasia [RCV001113207]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001113206]\|Scapuloperoneal spinal muscular atrophy [RCV001113204]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV001113205]	uncertain significance	12	109783619	109783619	Human	7	name
11602404	CV315979	single nucleotide variant	NM_021625.5(TRPV4):c.*99C>T	Brachyrachia (short spine dysplasia) [RCV000296456]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000331520]\|Metatropic dysplasia [RCV000386006]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000384716]\|Scapuloperoneal spinal muscular atrophy [RCV000290451]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV000325598]	uncertain significance	12	109783522	109783522	Human	7	name
11647794	CV315980	single nucleotide variant	NM_021625.5(TRPV4):c.*51G>A	Brachyrachia (short spine dysplasia) [RCV000302781]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000394145]\|Metatropic dysplasia [RCV000278281]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000372883]\|Scapuloperoneal spinal muscular atrophy [RCV000337978]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV000351420]	likely pathogenic\|uncertain significance	12	109783570	109783570	Human	7	name
11651088	CV329286	single nucleotide variant	NM_021625.5(TRPV4):c.-74G>A	Brachyrachia (short spine dysplasia) [RCV000302788]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000354261]\|Metatropic dysplasia [RCV000403464]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000336720]\|Scapuloperoneal spinal muscular atrophy [RCV000405672]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV000296930]	uncertain significance	12	109833392	109833392	Human	7	name
13538599	CV503880	single nucleotide variant	NM_021625.5(TRPV4):c.-51G>A	not specified [RCV000612068]	likely benign	12	109833369	109833369	Human		name
28911380	CV869235	single nucleotide variant	NM_021625.5(TRPV4):c.*83C>G	Brachyrachia (short spine dysplasia) [RCV001111196]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001110450]\|Metatropic dysplasia [RCV001111197]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001111194]\|Scapuloperoneal spinal muscular atrophy [RCV001111195]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV001111193]	uncertain significance	12	109783538	109783538	Human	7	name
28869396	CV869245	single nucleotide variant	NM_021625.5(TRPV4):c.-59C>T	Brachyrachia (short spine dysplasia) [RCV001113103]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001113101]\|Metatropic dysplasia [RCV001113100]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001113099]\|Scapuloperoneal spinal muscular atrophy [RCV001113104]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV001113102]	uncertain significance	12	109833377	109833377	Human	7	name
28872314	CV872186	single nucleotide variant	NM_021625.4(TRPV4):c.-92G>T	Brachyrachia (short spine dysplasia) [RCV001110452]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001110451]\|Metatropic dysplasia [RCV001110453]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001114485]\|Scapuloperoneal spinal muscular atrophy [RCV001114486]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV001114487]	uncertain significance	12	109833410	109833410	Human	7	name
34889942	CV905359	single nucleotide variant	NM_021625.5(TRPV4):c.-16C>T	Charcot-Marie-Tooth disease [RCV001173254]\|not provided [RCV001811680]	uncertain significance	12	109814812	109814812	Human	1	name
11601605	CV315969	single nucleotide variant	NM_021625.5(TRPV4):c.*365C>T	Brachyrachia (short spine dysplasia) [RCV000322282]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000347244]\|Metatropic dysplasia [RCV000395287]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000383904]\|Scapuloperoneal spinal muscular atrophy [RCV000287639]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV000283567]	pathogenic\|benign\|likely benign	12	109783256	109783256	Human	7	name
11645366	CV315978	single nucleotide variant	NM_021625.5(TRPV4):c.*212G>A	Brachyrachia (short spine dysplasia) [RCV000265050]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000324876]\|Metatropic dysplasia [RCV000359533]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000360861]\|Scapuloperoneal spinal muscular atrophy [RCV000270513]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV000300319]	uncertain significance	12	109783409	109783409	Human	7	name
11614174	CV329266	single nucleotide variant	NM_021625.5(TRPV4):c.*486T>C	Brachyrachia (short spine dysplasia) [RCV000274795]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000335568]\|Metatropic dysplasia [RCV000389632]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000318252]\|Scapuloperoneal spinal muscular atrophy [RCV000278181]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV000375233]	benign\|likely benign	12	109783135	109783135	Human	7	name
11612660	CV329268	single nucleotide variant	NM_021625.5(TRPV4):c.*378G>C	Brachyrachia (short spine dysplasia) [RCV000353523]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000380324]\|Metatropic dysplasia [RCV000319664]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000323286]\|Scapuloperoneal spinal muscular atrophy [RCV000261159]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV000262283]	benign\|likely benign	12	109783243	109783243	Human	7	name
11616296	CV329269	single nucleotide variant	NM_021625.5(TRPV4):c.*230G>A	Brachyrachia (short spine dysplasia) [RCV000399427]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000293456]\|Metatropic dysplasia [RCV000348264]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000353907]\|Scapuloperoneal spinal muscular atrophy [RCV000401318]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV000299079]	benign\|likely benign	12	109783391	109783391	Human	7	name
11615501	CV330434	single nucleotide variant	NM_021625.5(TRPV4):c.*423G>A	Brachyrachia (short spine dysplasia) [RCV000378452]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000347629]\|Metatropic dysplasia [RCV000396721]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000290239]\|Scapuloperoneal spinal muscular atrophy [RCV000339010]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV000286292]\|not provided [RCV002262960]	benign\|likely benign	12	109783198	109783198	Human	7	name
11652921	CV330446	single nucleotide variant	NM_021625.5(TRPV4):c.*405G>A	Brachyrachia (short spine dysplasia) [RCV000402415]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000307715]\|Metatropic dysplasia [RCV000311360]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000368641]\|Scapuloperoneal spinal muscular atrophy [RCV000390496]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV000369429]	uncertain significance	12	109783216	109783216	Human	7	name
14715443	CV665388	single nucleotide variant	NM_021625.4(TRPV4):c.-228T>C	not provided [RCV000829390]	benign	12	109833546	109833546	Human		name
28869087	CV869228	single nucleotide variant	NM_021625.5(TRPV4):c.*500C>T	Brachyrachia (short spine dysplasia) [RCV001110939]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001112934]\|Metatropic dysplasia [RCV001112933]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001110940]\|Scapuloperoneal spinal muscular atrophy [RCV001112935]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV001110938]	uncertain significance	12	109783121	109783121	Human	7	name
28871897	CV869229	single nucleotide variant	NM_021625.5(TRPV4):c.*421G>A	Brachyrachia (short spine dysplasia) [RCV001110276]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001110275]\|Metatropic dysplasia [RCV001110273]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001110272]\|Scapuloperoneal spinal muscular atrophy [RCV001114293]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV001110274]\|not provided [RCV004693662]	uncertain significance	12	109783200	109783200	Human	7	name
28911273	CV869230	single nucleotide variant	NM_021625.5(TRPV4):c.*411A>G	Brachyrachia (short spine dysplasia) [RCV001110279]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001110278]\|Metatropic dysplasia [RCV001111026]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001111025]\|Scapuloperoneal spinal muscular atrophy [RCV001111024]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV001110277]	pathogenic\|uncertain significance	12	109783210	109783210	Human	7	name
28872111	CV869231	single nucleotide variant	NM_021625.5(TRPV4):c.*303G>A	Brachyrachia (short spine dysplasia) [RCV001114395]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001114397]\|Metatropic dysplasia [RCV001110360]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001110361]\|Scapuloperoneal spinal muscular atrophy [RCV001114396]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV001110359]	pathogenic\|uncertain significance	12	109783318	109783318	Human	7	name
28911750	CV869232	single nucleotide variant	NM_021625.5(TRPV4):c.*227A>G	Brachyrachia (short spine dysplasia) [RCV001111104]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001111108]\|Metatropic dysplasia [RCV001111107]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001111109]\|Scapuloperoneal spinal muscular atrophy [RCV001111106]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV001111105]	uncertain significance	12	109783394	109783394	Human	7	name
28869392	CV869233	single nucleotide variant	NM_021625.5(TRPV4):c.*190C>T	Brachyrachia (short spine dysplasia) [RCV001113098]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001114477]\|Metatropic dysplasia [RCV001113096]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001114479]\|Scapuloperoneal spinal muscular atrophy [RCV001114478]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV001113097]	benign	12	109783431	109783431	Human	7	name
28872306	CV869234	single nucleotide variant	NM_021625.5(TRPV4):c.*145C>T	Brachyrachia (short spine dysplasia) [RCV001114482]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001114484]\|Metatropic dysplasia [RCV001114481]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001114480]\|Scapuloperoneal spinal muscular atrophy [RCV001110449]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV001114483]	uncertain significance	12	109783476	109783476	Human	7	name
152163614	CV1600921	single nucleotide variant	NM_021625.5(TRPV4):c.386+9T>C	Charcot-Marie-Tooth disease axonal type 2C [RCV002141355]	likely benign	12	109814402	109814402	Human	1	name
10052840	CV195407	single nucleotide variant	NM_021625.5(TRPV4):c.854-4G>A	Brachyrachia (short spine dysplasia) [RCV000354420]\|Charcot-Marie-Tooth disease [RCV001173503]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001082238]\|Connective tissue disorder [RCV002277422]\|Inborn genetic diseases [RCV002444718]\|Metatropic dysplasia [RCV000259516]\|Neuronopathy, distal hereditar ... (more) y motor, autosomal dominant 8 [RCV000357723]\|Scapuloperoneal spinal muscular atrophy [RCV000318113]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000333504]\|not provided [RCV000469304]\|not specified [RCV000253460]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109798916	109798916	Human	10	name
243064229	CV2411276	single nucleotide variant	NM_021625.5(TRPV4):c.559+1G>A	not provided [RCV003142848]	uncertain significance	12	109808295	109808295	Human		name
11348158	CV241234	single nucleotide variant	NM_021625.5(TRPV4):c.387-4C>T	Brachyrachia (short spine dysplasia) [RCV000367111]\|Charcot-Marie-Tooth disease [RCV001172938]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000234589]\|Metatropic dysplasia [RCV000404952]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000314703]\|Scapuloperoneal spinal muscular atro ... (more) phy [RCV000396109]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000278187]\|not provided [RCV001812653]\|not specified [RCV000247653]	benign\|likely benign	12	109808472	109808472	Human	8	name
11602394	CV323240	single nucleotide variant	NM_021625.5(TRPV4):c.854-5C>T	Brachyrachia (short spine dysplasia) [RCV000290377]\|Brachyrachia (short spine dysplasia) [RCV002494958]\|Charcot-Marie-Tooth disease [RCV001172946]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001082758]\|Connective tissue disorder [RCV002278389]\|Metatropic dysplasia [RCV000344124]\|Neuronopathy, dis ... (more) tal hereditary motor, autosomal dominant 8 [RCV000384639]\|Scapuloperoneal spinal muscular atrophy [RCV000293748]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000387995]\|not provided [RCV000713887]\|not specified [RCV000440972]	benign\|likely benign	12	109798917	109798917	Human	13	name
597835646	CV3760997	single nucleotide variant	NM_021625.5(TRPV4):c.853+5G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV005085548]	uncertain significance	12	109800613	109800613	Human	1	name
597955081	CV3809399	single nucleotide variant	NM_021625.5(TRPV4):c.559+3G>T	Charcot-Marie-Tooth disease axonal type 2C [RCV005162123]	uncertain significance	12	109808293	109808293	Human	1	name
597928585	CV3816159	single nucleotide variant	NM_021625.5(TRPV4):c.560-8C>G	Charcot-Marie-Tooth disease axonal type 2C [RCV005156740]	likely benign	12	109803151	109803151	Human	1	name
13617617	CV526906	single nucleotide variant	NM_021625.5(TRPV4):c.712+5G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV000645549]\|not provided [RCV001592800]	uncertain significance	12	109802986	109802986	Human	1	name
13617670	CV526913	single nucleotide variant	NM_021625.5(TRPV4):c.387-6C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV000645574]\|Inborn genetic diseases [RCV002360596]	likely benign\|uncertain significance	12	109808474	109808474	Human	2	name
15131869	CV685301	single nucleotide variant	NM_021625.5(TRPV4):c.387-9C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV001433535]\|not provided [RCV000863696]	likely benign	12	109808477	109808477	Human	1	name
28880228	CV859932	duplication	NM_021625.5(TRPV4):c.713-2dup	Charcot-Marie-Tooth disease axonal type 2C [RCV002557951]\|not provided [RCV001090938]	uncertain significance	12	109800759	109800760	Human	1	name
34889930	CV905666	single nucleotide variant	NM_021625.5(TRPV4):c.712+1G>T	Charcot-Marie-Tooth disease [RCV001173241]	uncertain significance	12	109802990	109802990	Human	1	name
38461673	CV920307	single nucleotide variant	NM_021625.5(TRPV4):c.386+1G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV001197827]	uncertain significance	12	109814410	109814410	Human	1	name
38463050	CV920308	single nucleotide variant	NM_021625.5(TRPV4):c.-31-3C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV001198616]	uncertain significance	12	109814830	109814830	Human	1	name
38489802	CV941021	single nucleotide variant	NM_021625.5(TRPV4):c.713-7C>G	Charcot-Marie-Tooth disease axonal type 2C [RCV001221865]	uncertain significance	12	109800765	109800765	Human	1	name
126915376	CV1047659	single nucleotide variant	NM_021625.5(TRPV4):c.2458+4A>C	Charcot-Marie-Tooth disease axonal type 2C [RCV001370878]\|not provided [RCV004774434]	uncertain significance	12	109784312	109784312	Human	1	name
127233949	CV1079098	single nucleotide variant	NM_021625.5(TRPV4):c.1584+7G>T	Charcot-Marie-Tooth disease axonal type 2C [RCV001396326]	likely benign	12	109793923	109793923	Human	1	name
127278206	CV1100828	single nucleotide variant	NM_021625.5(TRPV4):c.2459-4G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV001444897]	likely benign	12	109783782	109783782	Human	1	name
127232681	CV1100829	single nucleotide variant	NM_021625.5(TRPV4):c.2208+7C>G	Charcot-Marie-Tooth disease axonal type 2C [RCV001421404]	likely benign	12	109788393	109788393	Human	1	name
127301997	CV1122289	single nucleotide variant	NM_021625.5(TRPV4):c.1658+7A>G	Charcot-Marie-Tooth disease axonal type 2C [RCV001454341]	likely benign	12	109793520	109793520	Human	1	name
150427494	CV1187832	single nucleotide variant	NM_021625.5(TRPV4):c.854-84G>A	not provided [RCV001561001]	likely benign	12	109798996	109798996	Human		name
150511120	CV1213800	single nucleotide variant	NM_021625.5(TRPV4):c.713-33C>T	not provided [RCV001597869]	benign	12	109800791	109800791	Human		name
151743452	CV1391093	single nucleotide variant	NM_021625.5(TRPV4):c.1824+1G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV001985471]	uncertain significance	12	109792651	109792651	Human	1	name
151888868	CV1517295	single nucleotide variant	NM_021625.5(TRPV4):c.2209-1G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002038487]\|not provided [RCV002463106]	uncertain significance	12	109786838	109786838	Human	1	name
152108314	CV1529962	single nucleotide variant	NM_021625.5(TRPV4):c.1153-6G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002196443]	likely benign	12	109796710	109796710	Human	1	name
152075874	CV1551297	single nucleotide variant	NM_021625.5(TRPV4):c.2209-8C>G	Charcot-Marie-Tooth disease axonal type 2C [RCV002192399]	likely benign	12	109786845	109786845	Human	1	name
152116505	CV1553447	single nucleotide variant	NM_021625.5(TRPV4):c.2459-8C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV002080966]	likely benign	12	109783786	109783786	Human	1	name
152062130	CV1558478	single nucleotide variant	NM_021625.5(TRPV4):c.1333-5C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV002128460]\|Inborn genetic diseases [RCV002382423]	likely benign\|uncertain significance	12	109794492	109794492	Human	2	name
152139218	CV1559911	single nucleotide variant	NM_021625.5(TRPV4):c.387-17C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV002137954]	likely benign	12	109808485	109808485	Human	1	name
152139386	CV1559979	single nucleotide variant	NM_021625.5(TRPV4):c.560-12C>G	Charcot-Marie-Tooth disease axonal type 2C [RCV002137974]	likely benign	12	109803155	109803155	Human	1	name
152102905	CV1606000	single nucleotide variant	NM_021625.5(TRPV4):c.386+14G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002095763]	likely benign	12	109814397	109814397	Human	1	name
152052704	CV1622697	single nucleotide variant	NM_021625.5(TRPV4):c.854-18C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV002207717]	likely benign	12	109798930	109798930	Human	1	name
152052255	CV1649921	single nucleotide variant	NM_021625.5(TRPV4):c.853+14T>C	Charcot-Marie-Tooth disease axonal type 2C [RCV002167019]	likely benign	12	109800604	109800604	Human	1	name
152153044	CV1664626	single nucleotide variant	NM_021625.5(TRPV4):c.386+10G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002158475]	likely benign	12	109814401	109814401	Human	1	name
153301870	CV1685885	single nucleotide variant	NM_021625.5(TRPV4):c.1491+5G>C	Charcot-Marie-Tooth disease axonal type 2C [RCV003505198]\|not provided [RCV002260862]	uncertain significance	12	109794324	109794324	Human	1	name
155690512	CV1850707	single nucleotide variant	NM_021625.5(TRPV4):c.2209-4G>A	Inborn genetic diseases [RCV002425824]	uncertain significance	12	109786841	109786841	Human	1	name
156410856	CV1882802	single nucleotide variant	NM_021625.5(TRPV4):c.2336+8T>C	Charcot-Marie-Tooth disease axonal type 2C [RCV003072232]	likely benign	12	109786702	109786702	Human	1	name
156404699	CV1898368	single nucleotide variant	NM_021625.5(TRPV4):c.2459-5T>C	Charcot-Marie-Tooth disease axonal type 2C [RCV002585468]	likely benign	12	109783783	109783783	Human	1	name
156373779	CV1901949	single nucleotide variant	NM_021625.5(TRPV4):c.386+15C>G	Charcot-Marie-Tooth disease axonal type 2C [RCV003092685]	likely benign	12	109814396	109814396	Human	1	name
156293390	CV1908178	single nucleotide variant	NM_021625.5(TRPV4):c.1825-5T>C	Charcot-Marie-Tooth disease axonal type 2C [RCV002598846]	likely benign	12	109792434	109792434	Human	1	name
156016354	CV1912841	single nucleotide variant	NM_021625.5(TRPV4):c.712+11G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002619164]	likely benign	12	109802980	109802980	Human	1	name
156395659	CV1928012	single nucleotide variant	NM_021625.5(TRPV4):c.1891+7T>C	Charcot-Marie-Tooth disease axonal type 2C [RCV002654884]	likely benign	12	109792356	109792356	Human	1	name
156387223	CV1979851	single nucleotide variant	NM_021625.5(TRPV4):c.853+17T>G	Charcot-Marie-Tooth disease axonal type 2C [RCV002604371]	likely benign	12	109800601	109800601	Human	1	name
156008871	CV1989571	single nucleotide variant	NM_021625.5(TRPV4):c.2458+7G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002636117]	likely benign	12	109784309	109784309	Human	1	name
156214389	CV2019031	single nucleotide variant	NM_021625.5(TRPV4):c.2209-8C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV002700753]	likely benign	12	109786845	109786845	Human	1	name
156009702	CV2042740	single nucleotide variant	NM_021625.5(TRPV4):c.1492-9G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002756613]	likely benign	12	109794031	109794031	Human	1	name
155980662	CV2073940	single nucleotide variant	NM_021625.5(TRPV4):c.854-20C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV002842500]	likely benign	12	109798932	109798932	Human	1	name
156011148	CV2075607	single nucleotide variant	NM_021625.5(TRPV4):c.1659-7A>G	Charcot-Marie-Tooth disease axonal type 2C [RCV002843880]	likely benign	12	109792824	109792824	Human	1	name
10405828	CV212985	single nucleotide variant	NM_021625.5(TRPV4):c.712+10C>T	Brachyrachia (short spine dysplasia) [RCV000262983]\|Charcot-Marie-Tooth disease [RCV001172924]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001080826]\|Metatropic dysplasia [RCV000361087]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000321443]\|Scapuloperoneal spinal muscular atro ... (more) phy [RCV000376042]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000266396]\|not provided [RCV000713885]\|not specified [RCV000431129]	benign\|likely benign	12	109802981	109802981	Human	8	name
11549597	CV254399	single nucleotide variant	NM_021625.5(TRPV4):c.2459-9T>G	Brachyrachia (short spine dysplasia) [RCV000327125]\|Charcot-Marie-Tooth disease [RCV001172936]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000475684]\|Connective tissue disorder [RCV002278215]\|Metatropic dysplasia [RCV000381330]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV00032 ... (more) 1387]\|Scapuloperoneal spinal muscular atrophy [RCV000286155]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000380592]\|not provided [RCV001683103]\|not specified [RCV000250619]	benign	12	109783787	109783787	Human	9	name
11544974	CV254406	single nucleotide variant	NM_021625.5(TRPV4):c.386+26G>C	not specified [RCV000244512]	likely benign	12	109814385	109814385	Human		name
11578695	CV267827	single nucleotide variant	NM_021625.5(TRPV4):c.1824+4C>T	Brachyrachia (short spine dysplasia) [RCV000347714]\|Charcot-Marie-Tooth disease [RCV001173504]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000531074]\|Metatropic dysplasia [RCV000287378]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000309687]\|Scapuloperoneal spinal muscular atro ... (more) phy [RCV000379242]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000397423]\|not provided [RCV001705414]\|not specified [RCV000295265]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	109792648	109792648	Human	8	name
402474466	CV2864696	single nucleotide variant	NM_021625.5(TRPV4):c.1659-1G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV003505445]	uncertain significance	12	109792818	109792818	Human	1	name
402478622	CV2887722	single nucleotide variant	NM_021625.5(TRPV4):c.2337-6T>C	Charcot-Marie-Tooth disease axonal type 2C [RCV003506193]	likely benign	12	109784443	109784443	Human	1	name
402472686	CV2924680	single nucleotide variant	NM_021625.5(TRPV4):c.1584+5G>C	Charcot-Marie-Tooth disease axonal type 2C [RCV003504957]	uncertain significance	12	109793925	109793925	Human	1	name
405067600	CV2958505	single nucleotide variant	NM_021625.5(TRPV4):c.1333-3T>C	Charcot-Marie-Tooth disease axonal type 2C [RCV003611925]	uncertain significance	12	109794490	109794490	Human	1	name
405083849	CV2993245	single nucleotide variant	NM_021625.5(TRPV4):c.1332+1G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV003613162]	uncertain significance	12	109796524	109796524	Human	1	name
405170363	CV3122397	single nucleotide variant	NM_021625.5(TRPV4):c.1658+1G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV003818986]	uncertain significance	12	109793526	109793526	Human	1	name
402487395	CV3171431	single nucleotide variant	NM_021625.5(TRPV4):c.559+10C>A	Charcot-Marie-Tooth disease axonal type 2C [RCV003876458]	likely benign	12	109808286	109808286	Human	1	name
404979002	CV3176032	single nucleotide variant	NM_021625.5(TRPV4):c.853+12C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV003880132]	likely benign	12	109800606	109800606	Human	1	name
405252927	CV3178145	single nucleotide variant	NM_021625.5(TRPV4):c.2336+7C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV003870925]	likely benign	12	109786703	109786703	Human	1	name
408388725	CV3520869	single nucleotide variant	NM_021625.5(TRPV4):c.1659-1G>T	not provided [RCV004761702]	uncertain significance	12	109792818	109792818	Human		name
12839041	CV372809	single nucleotide variant	NM_021625.5(TRPV4):c.2208+3G>A	not specified [RCV000428088]	likely benign	12	109788397	109788397	Human		name
12847827	CV372845	single nucleotide variant	NM_021625.5(TRPV4):c.712+19C>A	not specified [RCV000444176]	likely benign	12	109802972	109802972	Human		name
12844589	CV374531	single nucleotide variant	NM_021625.5(TRPV4):c.1491+8C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV001434416]\|not specified [RCV000438253]	likely benign	12	109794321	109794321	Human	1	name
597935256	CV3759391	single nucleotide variant	NM_021625.5(TRPV4):c.1585-1G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV005076511]	uncertain significance	12	109793601	109793601	Human	1	name
597906484	CV3773083	single nucleotide variant	NM_021625.5(TRPV4):c.1492-4C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV005113147]	likely benign	12	109794026	109794026	Human	1	name
597881662	CV3783784	single nucleotide variant	NM_021625.5(TRPV4):c.712+14C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV005124280]	likely benign	12	109802977	109802977	Human	1	name
597873707	CV3805503	single nucleotide variant	NM_021625.5(TRPV4):c.2459-7G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV005148781]	uncertain significance	12	109783785	109783785	Human	1	name
597857879	CV3850131	single nucleotide variant	NM_021625.5(TRPV4):c.560-18G>C	Charcot-Marie-Tooth disease axonal type 2C [RCV005195463]	likely benign	12	109803161	109803161	Human	1	name
598158446	CV3896712	deletion	NM_021625.5(TRPV4):c.2458+1del	Neuromuscular disease [RCV005367860]	uncertain significance	12	109784315	109784315	Human	1	name
12890822	CV398946	single nucleotide variant	NM_021625.5(TRPV4):c.1658+5G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV000475376]\|not provided [RCV000713879]	uncertain significance	12	109793522	109793522	Human	1	name
13537811	CV503527	single nucleotide variant	NM_021625.5(TRPV4):c.1892-9C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV001490870]\|not specified [RCV000610920]	likely benign	12	109788725	109788725	Human	1	name
13529639	CV503854	single nucleotide variant	NM_021625.5(TRPV4):c.713-16C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV002529530]\|not specified [RCV000605815]	likely benign	12	109800774	109800774	Human	1	name
13532068	CV504104	single nucleotide variant	NM_021625.5(TRPV4):c.2209-5C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV001421496]\|Inborn genetic diseases [RCV002431775]\|not specified [RCV000606681]	likely benign	12	109786842	109786842	Human	2	name
13534328	CV504126	single nucleotide variant	NM_021625.5(TRPV4):c.713-13C>T	not specified [RCV000601878]	likely benign	12	109800771	109800771	Human		name
13617649	CV526901	single nucleotide variant	NM_021625.5(TRPV4):c.1584+1G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV000645569]	likely benign	12	109793929	109793929	Human	1	name
13817659	CV565036	single nucleotide variant	NM_021625.5(TRPV4):c.1491+5G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV000693171]	uncertain significance	12	109794324	109794324	Human	1	name
13821362	CV571203	single nucleotide variant	NM_021625.5(TRPV4):c.1825-8G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV000695783]	likely benign\|uncertain significance	12	109792437	109792437	Human	1	name
34889708	CV905658	single nucleotide variant	NM_021625.5(TRPV4):c.2336+1G>A	Charcot-Marie-Tooth disease [RCV001172895]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001873602]\|not specified [RCV002271624]	uncertain significance	12	109786709	109786709	Human	2	name
34889715	CV905660	single nucleotide variant	NM_021625.5(TRPV4):c.1824+5G>A	Charcot-Marie-Tooth disease [RCV001172926]	likely benign	12	109792647	109792647	Human	1	name
38491303	CV960773	single nucleotide variant	NM_021625.5(TRPV4):c.1584+1G>C	Charcot-Marie-Tooth disease axonal type 2C [RCV001239375]	uncertain significance	12	109793929	109793929	Human	1	name
127247860	CV1079097	single nucleotide variant	NM_021625.5(TRPV4):c.1658+10G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV001399217]	likely benign	12	109793517	109793517	Human	1	name
127311755	CV1143152	single nucleotide variant	NM_021625.5(TRPV4):c.1491+10C>G	Charcot-Marie-Tooth disease axonal type 2C [RCV001501686]	likely benign	12	109794319	109794319	Human	1	name
150335773	CV1172339	single nucleotide variant	NM_021625.5(TRPV4):c.386+180G>A	not provided [RCV001540701]	likely benign	12	109814231	109814231	Human		name
150414526	CV1177541	deletion	NM_021625.5(TRPV4):c.854-242del	not provided [RCV001548170]	likely benign	12	109799154	109799154	Human		name
150422008	CV1180928	deletion	NM_021625.5(TRPV4):c.2459-38del	not provided [RCV001552274]	likely benign	12	109783816	109783816	Human		name
150409836	CV1191324	single nucleotide variant	NM_021625.5(TRPV4):c.1492-55G>A	not provided [RCV001565795]	likely benign	12	109794077	109794077	Human		name
150410523	CV1191326	single nucleotide variant	NM_021625.5(TRPV4):c.854-230T>C	not provided [RCV001566098]	likely benign	12	109799142	109799142	Human		name
150415279	CV1191327	single nucleotide variant	NM_021625.5(TRPV4):c.387-196A>G	not provided [RCV001567912]	likely benign	12	109808664	109808664	Human		name
150408284	CV1194605	single nucleotide variant	NM_021625.5(TRPV4):c.1492-73G>C	not provided [RCV001572585]	likely benign	12	109794095	109794095	Human		name
150419324	CV1198295	duplication	NM_021625.5(TRPV4):c.1891+98dup	not provided [RCV001577124]	likely benign	12	109792243	109792244	Human		name
150490386	CV1208608	single nucleotide variant	NM_021625.5(TRPV4):c.853+156G>A	not provided [RCV001592469]	likely benign	12	109800462	109800462	Human		name
150491346	CV1210351	single nucleotide variant	NM_021625.5(TRPV4):c.854-310C>T	not provided [RCV001592633]	likely benign	12	109799222	109799222	Human		name
150502699	CV1241625	single nucleotide variant	NM_021625.5(TRPV4):c.559+123G>A	not provided [RCV001657216]	benign	12	109808173	109808173	Human		name
150469036	CV1243092	single nucleotide variant	NM_021625.5(TRPV4):c.1152+72T>C	not provided [RCV001650610]	benign	12	109798542	109798542	Human		name
150439660	CV1247750	single nucleotide variant	NM_021625.5(TRPV4):c.387-184C>T	not provided [RCV001666117]	benign	12	109808652	109808652	Human		name
150474076	CV1263302	single nucleotide variant	NM_021625.5(TRPV4):c.2459-52C>T	not provided [RCV001684824]	benign	12	109783830	109783830	Human		name
150504638	CV1285997	single nucleotide variant	NM_021625.5(TRPV4):c.387-156A>C	not provided [RCV001719420]	benign	12	109808624	109808624	Human		name
150504643	CV1285998	single nucleotide variant	NM_021625.5(TRPV4):c.386+212G>A	not provided [RCV001719421]	benign	12	109814199	109814199	Human		name
151351209	CV1321129	duplication	NM_021625.5(TRPV4):c.1584+17dup	Charcot-Marie-Tooth disease axonal type 2C [RCV003505188]\|not provided [RCV001810789]	benign\|likely benign	12	109793912	109793913	Human	1	name
8691467	CV141427	single nucleotide variant	NM_021625.5(TRPV4):c.1153-10C>T	Brachyrachia (short spine dysplasia) [RCV000366929]\|Brachyrachia (short spine dysplasia) [RCV002477333]\|Charcot-Marie-Tooth disease [RCV001172932]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001083178]\|Metatropic dysplasia [RCV000268447]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 ... (more) [RCV000308392]\|Scapuloperoneal spinal muscular atrophy [RCV000312323]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000363078]\|not provided [RCV000713877]\|not specified [RCV000125616]	benign\|likely benign	12	109796714	109796714	Human	12	name
151877358	CV1480920	single nucleotide variant	NM_021625.5(TRPV4):c.2208+14G>T	Charcot-Marie-Tooth disease axonal type 2C [RCV001982070]	likely benign\|uncertain significance	12	109788386	109788386	Human	1	name
152161245	CV1531050	single nucleotide variant	NM_021625.5(TRPV4):c.1824+17C>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002123235]	likely benign	12	109792635	109792635	Human	1	name
152076621	CV1531188	single nucleotide variant	NM_021625.5(TRPV4):c.1152+20C>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002210684]	likely benign	12	109798594	109798594	Human	1	name
152030674	CV1534329	single nucleotide variant	NM_021625.5(TRPV4):c.1659-11C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV002086195]	likely benign	12	109792828	109792828	Human	1	name
152110055	CV1551063	single nucleotide variant	NM_021625.5(TRPV4):c.1333-17C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV002152932]	likely benign	12	109794504	109794504	Human	1	name
152073682	CV1551918	single nucleotide variant	NM_021625.5(TRPV4):c.1491+17C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV002075441]	benign	12	109794312	109794312	Human	1	name
152057972	CV1567426	single nucleotide variant	NM_021625.5(TRPV4):c.2458+11G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002146460]	likely benign	12	109784305	109784305	Human	1	name
152119157	CV1589135	single nucleotide variant	NM_021625.5(TRPV4):c.1333-20G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002216545]	likely benign	12	109794507	109794507	Human	1	name
152146438	CV1590493	single nucleotide variant	NM_021625.5(TRPV4):c.1332+12G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002220122]	likely benign	12	109796513	109796513	Human	1	name
152137761	CV1591893	single nucleotide variant	NM_021625.5(TRPV4):c.1584+17C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV002100347]	likely benign	12	109793913	109793913	Human	1	name
152106073	CV1605099	deletion	NM_021625.5(TRPV4):c.2208+19del	Charcot-Marie-Tooth disease axonal type 2C [RCV002196163]	benign	12	109788381	109788381	Human	1	name
152077169	CV1612924	single nucleotide variant	NM_021625.5(TRPV4):c.1891+17C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV002075887]	likely benign	12	109792346	109792346	Human	1	name
152047205	CV1614427	single nucleotide variant	NM_021625.5(TRPV4):c.1152+11G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002071736]	likely benign	12	109798603	109798603	Human	1	name
152104565	CV1614523	single nucleotide variant	NM_021625.5(TRPV4):c.1332+18G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002079423]	likely benign	12	109796507	109796507	Human	1	name
152163711	CV1619073	single nucleotide variant	NM_021625.5(TRPV4):c.1825-12T>G	Charcot-Marie-Tooth disease axonal type 2C [RCV002123657]	likely benign	12	109792441	109792441	Human	1	name
152108289	CV1623405	single nucleotide variant	NM_021625.5(TRPV4):c.1584+16C>G	Charcot-Marie-Tooth disease axonal type 2C [RCV002215118]	likely benign	12	109793914	109793914	Human	1	name
152090899	CV1629121	single nucleotide variant	NM_021625.5(TRPV4):c.1152+19G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002114060]	likely benign	12	109798595	109798595	Human	1	name
152032552	CV1643115	single nucleotide variant	NM_021625.5(TRPV4):c.1153-16C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV002204994]	likely benign	12	109796720	109796720	Human	1	name
152038873	CV1644304	single nucleotide variant	NM_021625.5(TRPV4):c.1584+14C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV002165388]	likely benign	12	109793916	109793916	Human	1	name
152119132	CV1659150	single nucleotide variant	NM_021625.5(TRPV4):c.2458+20C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV002175330]	likely benign	12	109784296	109784296	Human	1	name
156326892	CV1887319	single nucleotide variant	NM_021625.5(TRPV4):c.2458+15G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV003089547]	likely benign	12	109784301	109784301	Human	1	name
156445997	CV1951026	single nucleotide variant	NM_021625.5(TRPV4):c.2459-11T>C	Charcot-Marie-Tooth disease axonal type 2C [RCV003116960]	likely benign	12	109783789	109783789	Human	1	name
156391412	CV1964909	single nucleotide variant	NM_021625.5(TRPV4):c.2337-13T>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002583908]\|not provided [RCV005412424]	uncertain significance	12	109784450	109784450	Human	1	name
156122849	CV1982839	duplication	NM_021625.5(TRPV4):c.1492-20dup	Charcot-Marie-Tooth disease axonal type 2C [RCV002623011]	likely benign	12	109794041	109794042	Human	1	name
156014088	CV1986184	single nucleotide variant	NM_021625.5(TRPV4):c.2208+14G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002636374]	likely benign	12	109788386	109788386	Human	1	name
156329422	CV1990861	single nucleotide variant	NM_021625.5(TRPV4):c.2336+18G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002630844]	likely benign	12	109786692	109786692	Human	1	name
156291818	CV1998155	single nucleotide variant	NM_021625.5(TRPV4):c.2458+17G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002670796]	likely benign	12	109784299	109784299	Human	1	name
156112935	CV2008728	single nucleotide variant	NM_021625.5(TRPV4):c.2336+16T>G	Charcot-Marie-Tooth disease axonal type 2C [RCV002695740]	likely benign	12	109786694	109786694	Human	1	name
156312731	CV2031678	single nucleotide variant	NM_021625.5(TRPV4):c.1491+18G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002716630]	likely benign	12	109794311	109794311	Human	1	name
156273848	CV2067438	duplication	NM_021625.5(TRPV4):c.1333-20dup	Charcot-Marie-Tooth disease axonal type 2C [RCV002856147]	likely benign	12	109794506	109794507	Human	1	name
156108664	CV2072512	single nucleotide variant	NM_021625.5(TRPV4):c.1658+20C>G	Charcot-Marie-Tooth disease axonal type 2C [RCV002870809]	likely benign	12	109793507	109793507	Human	1	name
156110820	CV2092884	single nucleotide variant	NM_021625.5(TRPV4):c.1584+20G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002913769]	likely benign	12	109793910	109793910	Human	1	name
156233135	CV2118278	single nucleotide variant	NM_021625.5(TRPV4):c.1585-12C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV002958586]	likely benign	12	109793612	109793612	Human	1	name
155933867	CV2138560	single nucleotide variant	NM_021625.5(TRPV4):c.1825-10G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002993574]	uncertain significance	12	109792439	109792439	Human	1	name
155936292	CV2138909	single nucleotide variant	NM_021625.5(TRPV4):c.1584+15C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV002993750]	likely benign	12	109793915	109793915	Human	1	name
155939425	CV2142804	single nucleotide variant	NM_021625.5(TRPV4):c.1333-17C>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002993952]	likely benign	12	109794504	109794504	Human	1	name
11547213	CV254400	single nucleotide variant	NM_021625.5(TRPV4):c.2459-48C>G	not provided [RCV000829743]\|not specified [RCV000247468]	benign	12	109783826	109783826	Human		name
11545700	CV254401	single nucleotide variant	NM_021625.5(TRPV4):c.1891+47C>T	not provided [RCV001566092]\|not specified [RCV000245491]	likely benign	12	109792316	109792316	Human		name
11551543	CV254403	single nucleotide variant	NM_021625.5(TRPV4):c.1584+18G>C	Charcot-Marie-Tooth disease [RCV001172929]\|Charcot-Marie-Tooth disease axonal type 2C [RCV002058310]\|not provided [RCV001711576]\|not specified [RCV000253182]	benign	12	109793912	109793912	Human	2	name
11578052	CV267186	single nucleotide variant	NM_021625.5(TRPV4):c.1491+10C>T	Brachyrachia (short spine dysplasia) [RCV000365568]\|Charcot-Marie-Tooth disease [RCV001174119]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001085943]\|Metatropic dysplasia [RCV000330168]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000273307]\|Scapuloperoneal spinal muscular atro ... (more) phy [RCV000308460]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000400610]\|TRPV4-related disorder [RCV004547674]\|not provided [RCV000725182]\|not specified [RCV000382061]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109794319	109794319	Human	8	name , alternate_id
402474352	CV2857626	single nucleotide variant	NM_021625.5(TRPV4):c.1658+16T>C	Charcot-Marie-Tooth disease axonal type 2C [RCV003505422]	likely benign	12	109793511	109793511	Human	1	name
402476895	CV2866930	single nucleotide variant	NM_021625.5(TRPV4):c.2459-20C>G	Charcot-Marie-Tooth disease axonal type 2C [RCV003505897]	likely benign	12	109783798	109783798	Human	1	name
402480265	CV2886956	single nucleotide variant	NM_021625.5(TRPV4):c.1333-19A>C	Charcot-Marie-Tooth disease axonal type 2C [RCV003506419]	likely benign	12	109794506	109794506	Human	1	name
402472957	CV2928089	single nucleotide variant	NM_021625.5(TRPV4):c.1892-13T>A	Charcot-Marie-Tooth disease axonal type 2C [RCV003505021]	likely benign	12	109788729	109788729	Human	1	name
405079336	CV2977754	single nucleotide variant	NM_021625.5(TRPV4):c.2209-15C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV003612773]	likely benign	12	109786852	109786852	Human	1	name
405079158	CV2984319	single nucleotide variant	NM_021625.5(TRPV4):c.2459-10C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV003612756]	likely benign	12	109783788	109783788	Human	1	name
405079067	CV2987457	single nucleotide variant	NM_021625.5(TRPV4):c.1333-14C>A	Charcot-Marie-Tooth disease axonal type 2C [RCV003612747]	likely benign	12	109794501	109794501	Human	1	name
405062651	CV3052051	duplication	NM_021625.5(TRPV4):c.1585-14dup	Charcot-Marie-Tooth disease axonal type 2C [RCV003611468]	benign	12	109793613	109793614	Human	1	name
405070327	CV3068437	single nucleotide variant	NM_021625.5(TRPV4):c.1825-14G>T	Charcot-Marie-Tooth disease axonal type 2C [RCV003612134]	likely benign	12	109792443	109792443	Human	1	name
405073507	CV3078914	single nucleotide variant	NM_021625.5(TRPV4):c.2337-15C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV003612333]	likely benign	12	109784452	109784452	Human	1	name
11599732	CV323228	single nucleotide variant	NM_021625.5(TRPV4):c.1584+13C>T	Brachyrachia (short spine dysplasia) [RCV000325312]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000267932]\|Metatropic dysplasia [RCV000303375]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000271314]\|Scapuloperoneal spinal muscular atrophy [RCV000363631]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV000360444]\|not provided [RCV001697657]\|not specified [RCV000611075]	benign\|likely benign	12	109793917	109793917	Human	7	name
11613768	CV329275	single nucleotide variant	NM_021625.5(TRPV4):c.1825-15C>T	Brachyrachia (short spine dysplasia) [RCV000366909]\|Charcot-Marie-Tooth disease [RCV001174134]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000274730]\|Metatropic dysplasia [RCV000331974]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000271248]\|Scapuloperoneal spinal muscular atro ... (more) phy [RCV000328673]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000363527]\|not provided [RCV001812794]\|not specified [RCV000441329]	benign\|likely benign	12	109792444	109792444	Human	8	name
11612414	CV330448	single nucleotide variant	NM_021625.5(TRPV4):c.1825-15C>G	Brachyrachia (short spine dysplasia) [RCV000259297]\|Charcot-Marie-Tooth disease [RCV001174132]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000340970]\|Metatropic dysplasia [RCV000316890]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000375912]\|Scapuloperoneal spinal muscular atro ... (more) phy [RCV000388794]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000283684]\|not provided [RCV001812795]\|not specified [RCV000434806]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109792444	109792444	Human	8	name
12848342	CV372531	single nucleotide variant	NM_021625.5(TRPV4):c.1584+18G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV001861571]\|not specified [RCV000445118]	likely benign	12	109793912	109793912	Human	1	name
12843397	CV372537	single nucleotide variant	NM_021625.5(TRPV4):c.1584+12G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV003611513]\|not specified [RCV000436149]	likely benign	12	109793918	109793918	Human	1	name
12847058	CV372803	single nucleotide variant	NM_021625.5(TRPV4):c.2458+15G>T	Charcot-Marie-Tooth disease axonal type 2C [RCV003611514]\|not specified [RCV000442814]	likely benign	12	109784301	109784301	Human	1	name
597830528	CV3743065	single nucleotide variant	NM_021625.5(TRPV4):c.1891+13T>G	Charcot-Marie-Tooth disease axonal type 2C [RCV005062073]	likely benign	12	109792350	109792350	Human	1	name
12835603	CV374528	single nucleotide variant	NM_021625.5(TRPV4):c.1658+15C>T	Brachyrachia (short spine dysplasia) [RCV001109471]\|Charcot-Marie-Tooth disease [RCV001174121]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001109475]\|Metatropic dysplasia [RCV001109474]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001109472]\|Scapuloperoneal spinal muscular atro ... (more) phy [RCV001109473]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV001109470]\|not specified [RCV000421980]	benign\|likely benign	12	109793512	109793512	Human	8	name
12832968	CV374529	single nucleotide variant	NM_021625.5(TRPV4):c.1585-18C>T	Charcot-Marie-Tooth disease [RCV001172935]\|Charcot-Marie-Tooth disease axonal type 2C [RCV002062315]\|not provided [RCV001720045]	benign\|likely benign	12	109793618	109793618	Human	2	name
597898023	CV3774005	single nucleotide variant	NM_021625.5(TRPV4):c.1824+17C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV005111726]	likely benign	12	109792635	109792635	Human	1	name
597875152	CV3775587	single nucleotide variant	NM_021625.5(TRPV4):c.1892-10C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV005123318]	likely benign	12	109788726	109788726	Human	1	name
597936136	CV3777606	single nucleotide variant	NM_021625.5(TRPV4):c.1153-19C>G	Charcot-Marie-Tooth disease axonal type 2C [RCV005132519]	likely benign	12	109796723	109796723	Human	1	name
597879613	CV3826276	single nucleotide variant	NM_021625.5(TRPV4):c.1659-19G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV005177972]	uncertain significance	12	109792836	109792836	Human	1	name
597974544	CV3831706	single nucleotide variant	NM_021625.5(TRPV4):c.1892-12A>G	Charcot-Marie-Tooth disease axonal type 2C [RCV005168645]	likely benign	12	109788728	109788728	Human	1	name
12886983	CV398432	single nucleotide variant	NM_021625.5(TRPV4):c.1152+10C>T	Charcot-Marie-Tooth disease axonal type 2C [RCV001412521]\|not provided [RCV000842149]	likely benign	12	109798604	109798604	Human	1	name
13536679	CV503521	single nucleotide variant	NM_021625.5(TRPV4):c.2337-16G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002063310]\|not specified [RCV000609344]	benign\|likely benign	12	109784453	109784453	Human	1	name
13532577	CV503847	single nucleotide variant	NM_021625.5(TRPV4):c.1825-14G>A	Charcot-Marie-Tooth disease axonal type 2C [RCV002062982]\|not specified [RCV000606847]	benign\|likely benign	12	109792443	109792443	Human	1	name
13540232	CV503849	deletion	NM_021625.5(TRPV4):c.1584+18del	Charcot-Marie-Tooth disease axonal type 2C [RCV002060657]\|not specified [RCV000614407]	likely benign	12	109793912	109793912	Human	1	name
13540865	CV504526	single nucleotide variant	NM_021625.5(TRPV4):c.1892-13T>C	not specified [RCV000615312]	likely benign	12	109788729	109788729	Human		name
13535888	CV504527	single nucleotide variant	NM_021625.5(TRPV4):c.1584+12G>T	Charcot-Marie-Tooth disease [RCV001174128]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001855246]\|not specified [RCV000608195]	likely benign	12	109793918	109793918	Human	2	name
14726166	CV665368	single nucleotide variant	NM_021625.5(TRPV4):c.1491+86C>G	not provided [RCV000833752]	benign	12	109794243	109794243	Human		name
14722143	CV666034	single nucleotide variant	NM_021625.5(TRPV4):c.1659-90C>T	not provided [RCV000831976]	benign	12	109792907	109792907	Human		name
14715454	CV666035	single nucleotide variant	NM_021625.5(TRPV4):c.853+158T>C	not provided [RCV000829394]	benign	12	109800460	109800460	Human		name
14715451	CV666039	single nucleotide variant	NM_021625.5(TRPV4):c.853+121T>C	not provided [RCV000829393]	benign	12	109800497	109800497	Human		name
14729708	CV666231	single nucleotide variant	NM_021625.5(TRPV4):c.1891+48G>A	not provided [RCV000835342]	benign	12	109792315	109792315	Human		name
14715448	CV666232	single nucleotide variant	NM_021625.5(TRPV4):c.387-110A>G	not provided [RCV000829392]	benign	12	109808578	109808578	Human		name
14715447	CV666234	single nucleotide variant	NM_021625.5(TRPV4):c.-32+202T>C	not provided [RCV000829391]	benign	12	109833148	109833148	Human		name
34890061	CV905657	single nucleotide variant	NM_021625.5(TRPV4):c.2336+10G>C	Charcot-Marie-Tooth disease [RCV001173505]	likely benign	12	109786700	109786700	Human	1	name
34890559	CV905659	single nucleotide variant	NM_021625.5(TRPV4):c.1824+14G>A	Charcot-Marie-Tooth disease [RCV001174116]\|Charcot-Marie-Tooth disease axonal type 2C [RCV005093742]	likely benign	12	109792638	109792638	Human	2	name
34890060	CV905661	single nucleotide variant	NM_021625.5(TRPV4):c.1585-15C>A	Charcot-Marie-Tooth disease [RCV001173501]	likely benign	12	109793615	109793615	Human	1	name
34890063	CV905662	single nucleotide variant	NM_021625.5(TRPV4):c.1492-17C>T	Charcot-Marie-Tooth disease [RCV001173510]\|Charcot-Marie-Tooth disease axonal type 2C [RCV002068086]\|not specified [RCV005236653]	likely benign	12	109794039	109794039	Human	2	name
34889719	CV905663	single nucleotide variant	NM_021625.5(TRPV4):c.1333-16A>C	Charcot-Marie-Tooth disease [RCV001172941]	benign	12	109794503	109794503	Human	1	name
34890570	CV905664	duplication	NM_021625.5(TRPV4):c.1152+15dup	Charcot-Marie-Tooth disease [RCV001174131]\|Charcot-Marie-Tooth disease axonal type 2C [RCV002068112]	benign\|likely benign	12	109798594	109798595	Human	2	name
34889717	CV905665	single nucleotide variant	NM_021625.5(TRPV4):c.1152+12G>T	Charcot-Marie-Tooth disease [RCV001172927]	likely benign	12	109798602	109798602	Human	1	name
150412733	CV1177540	single nucleotide variant	NM_021625.5(TRPV4):c.2337-246A>T	not provided [RCV001547591]	likely benign	12	109784683	109784683	Human		name
150409981	CV1191325	single nucleotide variant	NM_021625.5(TRPV4):c.1333-124A>G	not provided [RCV001565847]	likely benign	12	109794611	109794611	Human		name
150418054	CV1194604	deletion	NM_021625.5(TRPV4):c.1891+119del	not provided [RCV001569042]	likely benign	12	109792244	109792244	Human		name
150421373	CV1194606	single nucleotide variant	NM_021625.5(TRPV4):c.1153-254T>C	not provided [RCV001570521]	likely benign	12	109796958	109796958	Human		name
150479674	CV1207875	single nucleotide variant	NM_021625.5(TRPV4):c.2459-245C>T	not provided [RCV001590151]	likely benign	12	109784023	109784023	Human		name
150509350	CV1213108	duplication	NM_021625.5(TRPV4):c.1891+274dup	not provided [RCV001596799]	benign	12	109792076	109792077	Human		name
150501476	CV1213367	single nucleotide variant	NM_021625.5(TRPV4):c.2209-216G>T	not provided [RCV001594779]	benign	12	109787053	109787053	Human		name
150508099	CV1213946	single nucleotide variant	NM_021625.5(TRPV4):c.1659-248C>T	not provided [RCV001596467]	likely benign	12	109793065	109793065	Human		name
150508499	CV1214060	single nucleotide variant	NM_021625.5(TRPV4):c.2459-191G>C	not provided [RCV001596581]	likely benign	12	109783969	109783969	Human		name
150502222	CV1224434	single nucleotide variant	NM_021625.5(TRPV4):c.2337-293C>T	not provided [RCV001621075]	benign	12	109784730	109784730	Human		name
150514213	CV1228110	single nucleotide variant	NM_021625.5(TRPV4):c.2336+241G>A	not provided [RCV001638388]	benign	12	109786469	109786469	Human		name
150467680	CV1240919	single nucleotide variant	NM_021625.5(TRPV4):c.2337-339T>C	not provided [RCV001650377]	benign	12	109784776	109784776	Human		name
150458718	CV1248979	single nucleotide variant	NM_021625.5(TRPV4):c.2337-119C>T	not provided [RCV001669156]	benign	12	109784556	109784556	Human		name
150474521	CV1251291	single nucleotide variant	NM_021625.5(TRPV4):c.1152+300G>A	not provided [RCV001671785]	benign	12	109798314	109798314	Human		name
150449207	CV1260791	single nucleotide variant	NM_021625.5(TRPV4):c.1891+120G>T	not provided [RCV001680460]	benign	12	109792243	109792243	Human		name
150515528	CV1285571	single nucleotide variant	NM_021625.5(TRPV4):c.1491+100C>A	not provided [RCV001723024]	benign	12	109794229	109794229	Human		name
150515537	CV1285574	single nucleotide variant	NM_021625.5(TRPV4):c.1491+102C>T	not provided [RCV001723027]	benign	12	109794227	109794227	Human		name
150504426	CV1285955	single nucleotide variant	NM_021625.5(TRPV4):c.2458+124G>A	not provided [RCV001719378]	benign	12	109784192	109784192	Human		name
14733388	CV665360	single nucleotide variant	NM_021625.5(TRPV4):c.2336+124C>T	not provided [RCV000837073]	likely benign	12	109786586	109786586	Human		name
14705865	CV665364	single nucleotide variant	NM_021625.5(TRPV4):c.2208+282G>C	not provided [RCV000826336]	benign	12	109788118	109788118	Human		name
14715459	CV665380	single nucleotide variant	NM_021625.5(TRPV4):c.1153-149A>G	not provided [RCV000829396]	benign	12	109796853	109796853	Human		name
14722751	CV666033	single nucleotide variant	NM_021625.5(TRPV4):c.1892-151G>A	not provided [RCV000832235]	likely benign	12	109788867	109788867	Human		name
14714370	CV666217	single nucleotide variant	NM_021625.5(TRPV4):c.2209-274G>A	not provided [RCV000829016]	benign	12	109787111	109787111	Human		name
14705866	CV666224	single nucleotide variant	NM_021625.5(TRPV4):c.2209-280T>G	not provided [RCV000826337]	benign	12	109787117	109787117	Human		name
14705862	CV666228	single nucleotide variant	NM_021625.5(TRPV4):c.1892-275T>C	not provided [RCV000826335]	benign	12	109788991	109788991	Human		name
14715457	CV666456	single nucleotide variant	NM_021625.5(TRPV4):c.1153-189G>A	not provided [RCV000829395]	benign	12	109796893	109796893	Human		name
14722748	CV666474	single nucleotide variant	NM_021625.5(TRPV4):c.1153-198A>G	not provided [RCV000832234]	likely benign	12	109796902	109796902	Human		name
127301447	CV1122292	single nucleotide variant	NM_021625.5(TRPV4):c.6G>A (p.Ala2=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001454151]\|not provided [RCV001556349]	likely benign	12	109814791	109814791	Human	1	name
150510933	CV1229299	microsatellite	NM_021625.5(TRPV4):c.712+125GATG[8]	not provided [RCV001637227]	benign	12	109802838	109802839	Human		name
151771994	CV1431388	deletion	NM_021625.5(TRPV4):c.1492-1_1494del	Charcot-Marie-Tooth disease axonal type 2C [RCV001915070]	uncertain significance	12	109794020	109794023	Human	1	name
616939362	CV4015693	deletion	NM_021625.5(TRPV4):c.1825_1891+5del	Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV005413205]	likely pathogenic	12	109792358	109792429	Human	1	name
40903799	CV976360	deletion	NM_021625.5(TRPV4):c.2400_2458+1del	not provided [RCV001269608]	likely pathogenic	12	109784315	109784374	Human		name
151714782	CV1392453	deletion	NM_021625.5(TRPV4):c.1130_1152+16del	Charcot-Marie-Tooth disease axonal type 2C [RCV001908746]\|TRPV4-related disorder [RCV004552096]	uncertain significance	12	109798598	109798636	Human	1	name , alternate_id
155738666	CV1832118	duplication	NM_021625.5(TRPV4):c.1825-11_1839dup	Inborn genetic diseases [RCV002410416]	uncertain significance	12	109792414	109792415	Human	1	name
405151215	CV3123288	single nucleotide variant	NM_021625.5(TRPV4):c.27C>T (p.Arg9=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003817521]	likely benign	12	109814770	109814770	Human	1	name
597909039	CV3829936	single nucleotide variant	NM_021625.5(TRPV4):c.21C>T (p.Gly7=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005182505]	likely benign	12	109814776	109814776	Human	1	name
13539968	CV503872	single nucleotide variant	NM_021625.5(TRPV4):c.15C>T (p.Ser5=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000868115]\|Inborn genetic diseases [RCV002404657]\|not specified [RCV000614025]	likely benign	12	109814782	109814782	Human	2	name
41406465	CV982807	single nucleotide variant	NM_021625.5(TRPV4):c.24C>A (p.Pro8=)	not provided [RCV001288533]	uncertain significance	12	109814773	109814773	Human		name
155690516	CV1850708	microsatellite	NM_021625.5(TRPV4):c.2209-9_2209-6del	Inborn genetic diseases [RCV002425825]	uncertain significance	12	109786843	109786846	Human		name
156323619	CV1870928	single nucleotide variant	NM_021625.5(TRPV4):c.30G>A (p.Ala10=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003063247]	likely benign	12	109814767	109814767	Human	1	name
156319376	CV1900325	deletion	NM_021625.5(TRPV4):c.1333-4_1333-3del	Charcot-Marie-Tooth disease axonal type 2C [RCV003088906]	uncertain significance	12	109794490	109794491	Human	1	name
10048197	CV192529	single nucleotide variant	NM_021625.5(TRPV4):c.33G>T (p.Gly11=)	Brachyrachia (short spine dysplasia) [RCV000290852]\|Charcot-Marie-Tooth disease [RCV001172942]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001080757]\|Connective tissue disorder [RCV002277368]\|Inborn genetic diseases [RCV002453619]\|Metatropic dysplasia [RCV000387447]\|Neuronopathy, distal hereditar ... (more) y motor, autosomal dominant 8 [RCV000342298]\|Scapuloperoneal spinal muscular atrophy [RCV000348198]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000381552]\|not provided [RCV000713882]\|not specified [RCV000175933]	benign\|likely benign	12	109814764	109814764	Human	10	name
156438383	CV1946984	single nucleotide variant	NM_021625.5(TRPV4):c.8A>G (p.Asp3Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV003108324]	uncertain significance	12	109814789	109814789	Human	1	name
156017100	CV2121466	single nucleotide variant	NM_021625.5(TRPV4):c.5C>T (p.Ala2Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV002948591]	uncertain significance	12	109814792	109814792	Human	1	name
11348334	CV241236	single nucleotide variant	NM_021625.5(TRPV4):c.81T>C (p.Gly27=)	Brachyrachia (short spine dysplasia) [RCV000358402]\|Charcot-Marie-Tooth disease [RCV001172939]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000226240]\|Metatropic dysplasia [RCV000299983]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000305367]\|Scapuloperoneal spinal muscular atro ... (more) phy [RCV000265975]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000394931]\|not provided [RCV001573500]\|not specified [RCV000248682]	benign\|likely benign	12	109814716	109814716	Human	8	name
405213987	CV3143067	single nucleotide variant	NM_021625.5(TRPV4):c.51G>A (p.Glu17=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003846230]	likely benign	12	109814746	109814746	Human	1	name
13436294	CV433993	single nucleotide variant	NM_021625.5(TRPV4):c.57C>T (p.Pro19=)	Charcot-Marie-Tooth disease [RCV001173288]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000645567]\|Inborn genetic diseases [RCV002358393]\|not provided [RCV001697009]\|not specified [RCV000506931]	benign\|likely benign	12	109814740	109814740	Human	3	name
13706072	CV537212	single nucleotide variant	NM_021625.5(TRPV4):c.36C>T (p.Pro12=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001393469]\|Inborn genetic diseases [RCV002343406]\|not provided [RCV000658668]	likely benign	12	109814761	109814761	Human	2	name
126766408	CV1030646	single nucleotide variant	NM_021625.5(TRPV4):c.219C>T (p.Gly73=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001342410]	likely benign\|uncertain significance	12	109814578	109814578	Human	1	name
126766121	CV1030647	single nucleotide variant	NM_021625.5(TRPV4):c.19G>T (p.Gly7Cys)	Charcot-Marie-Tooth disease axonal type 2C [RCV001342297]	uncertain significance	12	109814778	109814778	Human	1	name
127293514	CV1122291	single nucleotide variant	NM_021625.5(TRPV4):c.174T>C (p.Ala58=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001459244]	likely benign	12	109814623	109814623	Human	1	name
127322292	CV1143159	single nucleotide variant	NM_021625.5(TRPV4):c.237G>A (p.Val79=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001505061]	likely benign	12	109814560	109814560	Human	1	name
127336065	CV1143160	single nucleotide variant	NM_021625.5(TRPV4):c.144G>A (p.Ser48=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001491926]\|not provided [RCV001810741]	likely benign	12	109814653	109814653	Human	1	name
151831940	CV1356036	single nucleotide variant	NM_021625.5(TRPV4):c.16G>A (p.Glu6Lys)	Charcot-Marie-Tooth disease axonal type 2C [RCV002030887]\|not provided [RCV004571996]	uncertain significance	12	109814781	109814781	Human	1	name
152124464	CV1564128	single nucleotide variant	NM_021625.5(TRPV4):c.268C>T (p.Leu90=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002176004]	likely benign	12	109814529	109814529	Human	1	name
152125565	CV1630228	single nucleotide variant	NM_021625.5(TRPV4):c.255G>A (p.Leu85=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002154824]	likely benign	12	109814542	109814542	Human	1	name
153347841	CV1694889	single nucleotide variant	NM_021625.5(TRPV4):c.105C>T (p.Ser35=)	Connective tissue disorder [RCV002278820]	uncertain significance	12	109814692	109814692	Human	1	name
156446192	CV1951228	single nucleotide variant	NM_021625.5(TRPV4):c.14G>A (p.Ser5Asn)	Charcot-Marie-Tooth disease axonal type 2C [RCV003117159]	uncertain significance	12	109814783	109814783	Human	1	name
156393629	CV2002486	single nucleotide variant	NM_021625.5(TRPV4):c.180A>G (p.Pro60=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002681013]	likely benign	12	109814617	109814617	Human	1	name
156214216	CV2110837	single nucleotide variant	NM_021625.5(TRPV4):c.282G>A (p.Ser94=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002918290]	likely benign	12	109814515	109814515	Human	1	name
156240734	CV2152470	single nucleotide variant	NM_021625.5(TRPV4):c.25C>G (p.Arg9Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV003008090]	uncertain significance	12	109814772	109814772	Human	1	name
405088430	CV3018721	single nucleotide variant	NM_021625.5(TRPV4):c.228C>T (p.Arg76=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003613532]	likely benign	12	109814569	109814569	Human	1	name
405062018	CV3047744	single nucleotide variant	NM_021625.5(TRPV4):c.249C>T (p.Ile83=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003611416]	likely benign	12	109814548	109814548	Human	1	name
402489673	CV3182323	duplication	NM_021625.5(TRPV4):c.2209-13_2209-5dup	Charcot-Marie-Tooth disease axonal type 2C [RCV003876809]	uncertain significance	12	109786841	109786842	Human	1	name
11645079	CV330498	single nucleotide variant	NM_021625.5(TRPV4):c.171T>C (p.Pro57=)	Brachyrachia (short spine dysplasia) [RCV000374276]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000263321]\|Inborn genetic diseases [RCV002411200]\|Metatropic dysplasia [RCV000315912]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000372893]\|Scapuloperoneal spinal muscular atrophy ... (more) [RCV000294966]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000321831]	likely benign\|uncertain significance	12	109814626	109814626	Human	8	name
12842345	CV372846	single nucleotide variant	NM_021625.5(TRPV4):c.126G>A (p.Gly42=)	Inborn genetic diseases [RCV002374709]\|not specified [RCV000434231]	likely benign	12	109814671	109814671	Human	1	name
597856897	CV3769416	single nucleotide variant	NM_021625.5(TRPV4):c.270A>G (p.Leu90=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005105457]	likely benign	12	109814527	109814527	Human	1	name
597914083	CV3833880	single nucleotide variant	NM_021625.5(TRPV4):c.256C>T (p.Leu86=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005183239]	likely benign	12	109814541	109814541	Human	1	name
597915835	CV3860918	single nucleotide variant	NM_021625.5(TRPV4):c.147C>T (p.Pro49=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005204281]	likely benign	12	109814650	109814650	Human	1	name
12913028	CV421897	single nucleotide variant	NM_021625.5(TRPV4):c.25C>T (p.Arg9Cys)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645543]\|Inborn genetic diseases [RCV002438202]\|not provided [RCV000493297]	uncertain significance	12	109814772	109814772	Human	2	name
13494742	CV461607	single nucleotide variant	NM_021625.5(TRPV4):c.26G>A (p.Arg9His)	Charcot-Marie-Tooth disease axonal type 2C [RCV000559137]\|Inborn genetic diseases [RCV002438431]	uncertain significance	12	109814771	109814771	Human	2	name
13617666	CV527230	single nucleotide variant	NM_021625.5(TRPV4):c.153G>A (p.Pro51=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645534]\|Inborn genetic diseases [RCV002397249]\|not provided [RCV003392488]	likely benign\|uncertain significance	12	109814644	109814644	Human	2	name
14716519	CV640629	single nucleotide variant	NM_021625.5(TRPV4):c.183C>T (p.Gly61=)	Charcot-Marie-Tooth disease [RCV001173490]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000795145]	uncertain significance	12	109814614	109814614	Human	2	name
15145088	CV768885	single nucleotide variant	NM_021625.5(TRPV4):c.288G>T (p.Val96=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001413596]	likely benign	12	109814509	109814509	Human	1	name
28911274	CV869244	single nucleotide variant	NM_021625.5(TRPV4):c.195A>G (p.Pro65=)	Brachyrachia (short spine dysplasia) [RCV001111029]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001110280]\|Metatropic dysplasia [RCV001111028]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001111030]\|Scapuloperoneal spinal muscular atrophy [RCV001111031]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV001111027]	conflicting interpretations of pathogenicity\|uncertain significance	12	109814602	109814602	Human	7	name
34889933	CV905358	single nucleotide variant	NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp)	Charcot-Marie-Tooth disease [RCV001173245]\|Charcot-Marie-Tooth disease axonal type 2C [RCV002558751]	uncertain significance	12	109814777	109814777	Human	2	name
127243077	CV1079101	single nucleotide variant	NM_021625.5(TRPV4):c.432C>T (p.Pro144=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001398288]	likely benign	12	109808423	109808423	Human	1	name
127283702	CV1100838	single nucleotide variant	NM_021625.5(TRPV4):c.771C>T (p.Leu257=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001448679]\|not provided [RCV001726557]	likely benign	12	109800700	109800700	Human	1	name
127335640	CV1122290	single nucleotide variant	NM_021625.5(TRPV4):c.507G>T (p.Leu169=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001474408]	likely benign	12	109808348	109808348	Human	1	name
127332589	CV1143157	single nucleotide variant	NM_021625.5(TRPV4):c.465T>C (p.Phe155=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001489581]\|not provided [RCV003883668]	likely benign	12	109808390	109808390	Human	1	name
127332748	CV1143158	single nucleotide variant	NM_021625.5(TRPV4):c.375G>A (p.Lys125=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001489717]	likely benign	12	109814422	109814422	Human	1	name
150515343	CV1217460	deletion	NM_021625.5(TRPV4):c.854-243_854-242del	not provided [RCV001608366]	benign	12	109799154	109799155	Human		name
151352468	CV1321467	single nucleotide variant	NM_021625.5(TRPV4):c.957G>C (p.Ser319=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002541366]\|not provided [RCV001811871]	likely benign	12	109798809	109798809	Human	1	name
8691465	CV141425	single nucleotide variant	NM_021625.5(TRPV4):c.789T>C (p.Asp263=)	Brachyrachia (short spine dysplasia) [RCV000327414]\|Charcot-Marie-Tooth disease [RCV001172933]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000860448]\|Metatropic dysplasia [RCV000382023]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000324677]\|Scapuloperoneal spinal muscular atro ... (more) phy [RCV000272462]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000288351]\|not provided [RCV004706578]\|not specified [RCV000125614]	benign	12	109800682	109800682	Human	8	name
8691466	CV141426	single nucleotide variant	NM_021625.5(TRPV4):c.795C>T (p.His265=)	Brachyrachia (short spine dysplasia) [RCV000297013]\|Charcot-Marie-Tooth disease [RCV001172940]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000860414]\|Metatropic dysplasia [RCV000330749]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000367004]\|Scapuloperoneal spinal muscular atro ... (more) phy [RCV000370408]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000275744]\|not provided [RCV004706579]\|not specified [RCV000125615]	benign	12	109800676	109800676	Human	8	name
151734042	CV1452885	single nucleotide variant	NM_021625.5(TRPV4):c.762G>A (p.Val254=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002041493]	likely benign\|uncertain significance	12	109800709	109800709	Human	1	name
152160128	CV1522789	single nucleotide variant	NM_021625.5(TRPV4):c.594C>G (p.Ala198=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002140776]	likely benign	12	109803109	109803109	Human	1	name
152064257	CV1535767	single nucleotide variant	NM_021625.5(TRPV4):c.561G>A (p.Glu187=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002168407]	likely benign	12	109803142	109803142	Human	1	name
152056411	CV1567100	single nucleotide variant	NM_021625.5(TRPV4):c.630C>T (p.Ile210=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002146290]	likely benign	12	109803073	109803073	Human	1	name
152173006	CV1572607	single nucleotide variant	NM_021625.5(TRPV4):c.450C>T (p.Asn150=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002162651]	likely benign	12	109808405	109808405	Human	1	name
152026391	CV1594492	single nucleotide variant	NM_021625.5(TRPV4):c.858G>A (p.Glu286=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002104541]	likely benign	12	109798908	109798908	Human	1	name
152063101	CV1594622	single nucleotide variant	NM_021625.5(TRPV4):c.648C>T (p.Ile216=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002110369]\|not provided [RCV004704776]	likely benign	12	109803055	109803055	Human	1	name
152130749	CV1597829	single nucleotide variant	NM_021625.5(TRPV4):c.477C>G (p.Ser159=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002176769]	likely benign	12	109808378	109808378	Human	1	name
152107620	CV1624076	single nucleotide variant	NM_021625.5(TRPV4):c.798C>T (p.Ala266=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002134062]	likely benign	12	109800673	109800673	Human	1	name
152081489	CV1641375	single nucleotide variant	NM_021625.5(TRPV4):c.624C>T (p.Asp208=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002211480]\|not provided [RCV003395376]	likely benign	12	109803079	109803079	Human	1	name
152144898	CV1651756	single nucleotide variant	NM_021625.5(TRPV4):c.687G>A (p.Ser229=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002138666]\|TRPV4-related disorder [RCV004553834]	likely benign	12	109803016	109803016	Human	1	name , alternate_id
156384547	CV1874741	single nucleotide variant	NM_021625.5(TRPV4):c.79G>A (p.Gly27Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV003050758]	uncertain significance	12	109814718	109814718	Human	1	name
156404684	CV1916678	single nucleotide variant	NM_021625.5(TRPV4):c.28G>A (p.Ala10Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV002606154]	uncertain significance	12	109814769	109814769	Human	1	name
156067552	CV1927948	single nucleotide variant	NM_021625.5(TRPV4):c.471C>T (p.Ile157=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002638494]	likely benign	12	109808384	109808384	Human	1	name
156156577	CV1931571	single nucleotide variant	NM_021625.5(TRPV4):c.910C>T (p.Leu304=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002664086]\|not provided [RCV004763551]	likely benign\|uncertain significance	12	109798856	109798856	Human	1	name
8596647	CV20042	single nucleotide variant	NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser)	Brachyrachia (short spine dysplasia) [RCV000317460]\|Charcot-Marie-Tooth disease [RCV001172934]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001079400]\|Connective tissue disorder [RCV002276532]\|Metatropic dysplasia [RCV000357119]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV00025 ... (more) 9885]\|Scapuloperoneal spinal muscular atrophy [RCV000388208]\|Sodium serum level quantitative trait locus 1 [RCV000005297]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000277523]\|not provided [RCV000713884]\|not specified [RCV000125613]	association\|benign	12	109814742	109814742	Human	9	name
156285269	CV2012729	single nucleotide variant	NM_021625.5(TRPV4):c.417C>T (p.Ala139=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002715437]	likely benign	12	109808438	109808438	Human	1	name
155956619	CV2078322	single nucleotide variant	NM_021625.5(TRPV4):c.657C>T (p.Arg219=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002880800]	likely benign	12	109803046	109803046	Human	1	name
155992836	CV2125937	single nucleotide variant	NM_021625.5(TRPV4):c.435C>T (p.Ile145=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002974811]	likely benign	12	109808420	109808420	Human	1	name
156369429	CV2174293	single nucleotide variant	NM_021625.5(TRPV4):c.41A>T (p.Glu14Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV003049586]	uncertain significance	12	109814756	109814756	Human	1	name
156103389	CV2180222	deletion	NM_021625.5(TRPV4):c.1658+15_1658+21del	Charcot-Marie-Tooth disease axonal type 2C [RCV003054807]	likely benign	12	109793506	109793512	Human	1	name
10767571	CV222201	single nucleotide variant	NM_021625.5(TRPV4):c.810G>A (p.Gly270=)	Brachyrachia (short spine dysplasia) [RCV000340542]\|Charcot-Marie-Tooth disease [RCV001172944]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001080107]\|Connective tissue disorder [RCV002277566]\|Inborn genetic diseases [RCV002415867]\|Metatropic dysplasia [RCV000285556]\|Neuronopathy, distal hereditar ... (more) y motor, autosomal dominant 8 [RCV000300680]\|Scapuloperoneal spinal muscular atrophy [RCV000355626]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000398219]\|not provided [RCV000756822]\|not specified [RCV001699067]	benign\|likely benign	12	109800661	109800661	Human	10	name
156262082	CV2319762	single nucleotide variant	NM_021625.5(TRPV4):c.59G>C (p.Gly20Ala)	Inborn genetic diseases [RCV002959811]	uncertain significance	12	109814738	109814738	Human	1	name
156448769	CV2402180	single nucleotide variant	NM_021625.5(TRPV4):c.528C>T (p.His176=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005060939]\|not provided [RCV003120339]	likely benign	12	109808327	109808327	Human	1	name
11348875	CV241233	single nucleotide variant	NM_021625.5(TRPV4):c.396G>A (p.Pro132=)	Charcot-Marie-Tooth disease [RCV001173287]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000228423]\|Inborn genetic diseases [RCV002374377]\|not provided [RCV001705284]\|not specified [RCV000301536]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	109808459	109808459	Human	3	name
11523148	CV244726	single nucleotide variant	NM_021625.5(TRPV4):c.855G>T (p.Gly285=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001048134]\|not provided [RCV001722273]	likely benign\|uncertain significance	12	109798911	109798911	Human	1	name
11524074	CV244731	single nucleotide variant	NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp)	Brachyrachia (short spine dysplasia) [RCV001110362]\|Charcot-Marie-Tooth disease [RCV001173258]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000458201]\|Inborn genetic diseases [RCV002356317]\|Metatropic dysplasia [RCV001111111]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV00111111 ... (more) 0]\|Scapuloperoneal spinal muscular atrophy [RCV001110364]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV001110363]\|not provided [RCV000237063]\|not specified [RCV005406983]	likely benign\|uncertain significance	12	109814760	109814760	Human	9	name
11523207	CV244732	single nucleotide variant	NM_021625.5(TRPV4):c.37G>A (p.Gly13Arg)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645541]\|Distal spinal muscular atrophy [RCV000856936]\|not provided [RCV000235553]	uncertain significance	12	109814760	109814760	Human	2	name
329396867	CV2468284	single nucleotide variant	NM_021625.5(TRPV4):c.83G>A (p.Gly28Glu)	Inborn genetic diseases [RCV003219758]	uncertain significance	12	109814714	109814714	Human	1	name
11545533	CV254404	single nucleotide variant	NM_021625.5(TRPV4):c.903C>G (p.Val301=)	Charcot-Marie-Tooth disease [RCV001174139]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000464102]\|Inborn genetic diseases [RCV002374431]\|not provided [RCV003389773]\|not specified [RCV000245268]	likely benign	12	109798863	109798863	Human	3	name
11547757	CV254405	single nucleotide variant	NM_021625.5(TRPV4):c.670A>C (p.Arg224=)	Brachyrachia (short spine dysplasia) [RCV000372711]\|Charcot-Marie-Tooth disease [RCV001172930]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000860176]\|Metatropic dysplasia [RCV000318188]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000352038]\|Scapuloperoneal spinal muscular atro ... (more) phy [RCV000293693]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000278253]\|not provided [RCV001668576]\|not specified [RCV000248184]	benign	12	109803033	109803033	Human	8	name
402474527	CV2861263	single nucleotide variant	NM_021625.5(TRPV4):c.43G>A (p.Val15Met)	Charcot-Marie-Tooth disease axonal type 2C [RCV003505457]	uncertain significance	12	109814754	109814754	Human	1	name
402472087	CV2904111	single nucleotide variant	NM_021625.5(TRPV4):c.973C>T (p.Leu325=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003504650]	likely benign	12	109798793	109798793	Human	1	name
402483346	CV2906804	single nucleotide variant	NM_021625.5(TRPV4):c.672G>A (p.Arg224=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003506727]	likely benign	12	109803031	109803031	Human	1	name
402473179	CV2925812	single nucleotide variant	NM_021625.5(TRPV4):c.603C>T (p.Asn201=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003505068]	likely benign	12	109803100	109803100	Human	1	name
405064341	CV2946201	single nucleotide variant	NM_021625.5(TRPV4):c.402C>T (p.Ser134=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003611675]	likely benign	12	109808453	109808453	Human	1	name
405075335	CV2962678	single nucleotide variant	NM_021625.5(TRPV4):c.957G>T (p.Ser319=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612480]	likely benign	12	109798809	109798809	Human	1	name
405087401	CV3014203	single nucleotide variant	NM_021625.5(TRPV4):c.88G>A (p.Ala30Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV003613449]	uncertain significance	12	109814709	109814709	Human	1	name
405087281	CV3017469	single nucleotide variant	NM_021625.5(TRPV4):c.897C>T (p.His299=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003613439]	likely benign	12	109798869	109798869	Human	1	name
405088396	CV3022421	single nucleotide variant	NM_021625.5(TRPV4):c.61G>A (p.Asp21Asn)	Charcot-Marie-Tooth disease axonal type 2C [RCV003613529]	uncertain significance	12	109814736	109814736	Human	1	name
405081972	CV3072668	single nucleotide variant	NM_021625.5(TRPV4):c.969A>C (p.Thr323=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003613005]	likely benign	12	109798797	109798797	Human	1	name
405074636	CV3074386	single nucleotide variant	NM_021625.5(TRPV4):c.495C>T (p.Asp165=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612408]	likely benign	12	109808360	109808360	Human	1	name
405183120	CV3124034	single nucleotide variant	NM_021625.5(TRPV4):c.675G>A (p.Glu225=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003820230]	likely benign	12	109803028	109803028	Human	1	name
405107823	CV3136557	single nucleotide variant	NM_021625.5(TRPV4):c.351C>T (p.Ser117=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003835711]	likely benign	12	109814446	109814446	Human	1	name
11601575	CV323242	single nucleotide variant	NM_021625.5(TRPV4):c.549G>A (p.Glu183=)	Brachyrachia (short spine dysplasia) [RCV000283644]\|Charcot-Marie-Tooth disease [RCV001173499]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000470041]\|Inborn genetic diseases [RCV002348043]\|Metatropic dysplasia [RCV000287704]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV00038439 ... (more) 5]\|Scapuloperoneal spinal muscular atrophy [RCV000406156]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000341010]\|TRPV4-related disorder [RCV004549666]\|not provided [RCV003391081]\|not specified [RCV000419595]	benign\|likely benign	12	109808306	109808306	Human	9	name , alternate_id
11603567	CV323247	single nucleotide variant	NM_021625.5(TRPV4):c.501C>T (p.Asp167=)	Brachyrachia (short spine dysplasia) [RCV000371344]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001088854]\|Inborn genetic diseases [RCV002338885]\|Metatropic dysplasia [RCV000301088]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000353564]\|Scapuloperoneal spinal muscular atrophy ... (more) [RCV000398054]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000398062]\|not provided [RCV000713883]	benign\|likely benign	12	109808354	109808354	Human	8	name
11616127	CV329279	single nucleotide variant	NM_021625.5(TRPV4):c.963C>A (p.Gly321=)	Brachyrachia (short spine dysplasia) [RCV000295579]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000335363]\|Inborn genetic diseases [RCV002374524]\|Metatropic dysplasia [RCV000292008]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000389848]\|Scapuloperoneal spinal muscular atrophy ... (more) [RCV000350404]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000402464]\|not provided [RCV003391080]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109798803	109798803	Human	8	name
11617311	CV329281	single nucleotide variant	NM_021625.5(TRPV4):c.936G>A (p.Ala312=)	Brachyrachia (short spine dysplasia) [RCV000395060]\|Charcot-Marie-Tooth disease [RCV001173507]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000361170]\|Inborn genetic diseases [RCV002374525]\|Metatropic dysplasia [RCV000395071]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV00030643 ... (more) 5]\|Scapuloperoneal spinal muscular atrophy [RCV000346866]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000302954]\|not provided [RCV004705236]	benign\|likely benign	12	109798830	109798830	Human	9	name
596929035	CV3540733	single nucleotide variant	NM_021625.5(TRPV4):c.552G>A (p.Glu184=)	not provided [RCV004795061]	uncertain significance	12	109808303	109808303	Human		name
12840031	CV372538	single nucleotide variant	NM_021625.5(TRPV4):c.957G>A (p.Ser319=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002059617]\|Inborn genetic diseases [RCV002379346]\|not specified [RCV000429926]	likely benign	12	109798809	109798809	Human	2	name
12841778	CV372542	single nucleotide variant	NM_021625.5(TRPV4):c.871C>T (p.Leu291=)	Inborn genetic diseases [RCV002446683]\|not specified [RCV000433175]	likely benign	12	109798895	109798895	Human	1	name
12833514	CV372546	single nucleotide variant	NM_021625.5(TRPV4):c.330C>T (p.Tyr110=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001439374]\|Inborn genetic diseases [RCV002323602]\|not provided [RCV003389804]\|not specified [RCV000418656]	likely benign	12	109814467	109814467	Human	2	name
597845425	CV3736285	single nucleotide variant	NM_021625.5(TRPV4):c.570G>A (p.Thr190=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005065633]	likely benign	12	109803133	109803133	Human	1	name
597884477	CV3780606	single nucleotide variant	NM_021625.5(TRPV4):c.34C>A (p.Pro12Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV005124734]	uncertain significance	12	109814763	109814763	Human	1	name
597877389	CV3813379	single nucleotide variant	NM_021625.5(TRPV4):c.82G>C (p.Gly28Arg)	Charcot-Marie-Tooth disease axonal type 2C [RCV005149315]	uncertain significance	12	109814715	109814715	Human	1	name
597911584	CV3816954	single nucleotide variant	NM_021625.5(TRPV4):c.756C>T (p.His252=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005154351]	likely benign	12	109800715	109800715	Human	1	name
597928514	CV3837273	single nucleotide variant	NM_021625.5(TRPV4):c.606G>T (p.Leu202=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005185431]	likely benign	12	109803097	109803097	Human	1	name
597930100	CV3837527	single nucleotide variant	NM_021625.5(TRPV4):c.80G>A (p.Gly27Asp)	Charcot-Marie-Tooth disease axonal type 2C [RCV005185685]	uncertain significance	12	109814717	109814717	Human	1	name
597936686	CV3852244	single nucleotide variant	NM_021625.5(TRPV4):c.513A>G (p.Pro171=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005186841]	likely benign	12	109808342	109808342	Human	1	name
12891386	CV398816	single nucleotide variant	NM_021625.5(TRPV4):c.300G>A (p.Lys100=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000476486]\|Connective tissue disorder [RCV002279234]\|Inborn genetic diseases [RCV002436500]\|not specified [RCV000599877]	likely benign\|uncertain significance	12	109814497	109814497	Human	3	name
13436948	CV433994	single nucleotide variant	NM_021625.5(TRPV4):c.28G>C (p.Ala10Pro)	Charcot-Marie-Tooth disease [RCV001174124]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001080634]\|Inborn genetic diseases [RCV002438235]\|not provided [RCV000755414]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109814769	109814769	Human	3	name
13477998	CV444910	single nucleotide variant	NM_021625.5(TRPV4):c.58G>A (p.Gly20Arg)	Charcot-Marie-Tooth disease [RCV000789590]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001851487]\|Inborn genetic diseases [RCV002358407]\|not provided [RCV005000096]\|not specified [RCV000520547]	likely benign\|uncertain significance	12	109814739	109814739	Human	3	name
13473880	CV461826	single nucleotide variant	NM_021625.5(TRPV4):c.711A>G (p.Arg237=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000547995]\|not specified [RCV001001305]	uncertain significance	12	109802992	109802992	Human	1	name
13526449	CV503865	single nucleotide variant	NM_021625.5(TRPV4):c.690C>T (p.Pro230=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001465827]\|Inborn genetic diseases [RCV002377285]\|not provided [RCV001697896]	likely benign	12	109803013	109803013	Human	2	name
13541285	CV503871	single nucleotide variant	NM_021625.5(TRPV4):c.651G>A (p.Ala217=)	Brachyrachia (short spine dysplasia) [RCV001114135]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000696233]\|Inborn genetic diseases [RCV002360479]\|Metatropic dysplasia [RCV001114139]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001114138]\|Scapuloperoneal spinal muscular atrophy ... (more) [RCV001114136]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV001114137]\|not provided [RCV001698442]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109803052	109803052	Human	8	name
13541508	CV504120	single nucleotide variant	NM_021625.5(TRPV4):c.792C>A (p.Val264=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001446919]\|Inborn genetic diseases [RCV002420644]\|not specified [RCV000616253]	likely benign	12	109800679	109800679	Human	2	name
13535533	CV504529	single nucleotide variant	NM_021625.5(TRPV4):c.426G>A (p.Pro142=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001515365]\|Inborn genetic diseases [RCV002331060]\|not provided [RCV000868189]	benign\|likely benign	12	109808429	109808429	Human	2	name
13617668	CV526663	single nucleotide variant	NM_021625.5(TRPV4):c.336C>A (p.Thr112=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645573]\|Inborn genetic diseases [RCV002458092]	likely benign	12	109814461	109814461	Human	2	name
13811151	CV571233	single nucleotide variant	NM_021625.5(TRPV4):c.915G>A (p.Thr305=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000688601]\|Inborn genetic diseases [RCV002369846]	likely benign\|uncertain significance	12	109798851	109798851	Human	2	name
14706665	CV640631	single nucleotide variant	NM_021625.5(TRPV4):c.50A>G (p.Glu17Gly)	Charcot-Marie-Tooth disease [RCV001172898]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000792069]	uncertain significance	12	109814747	109814747	Human	2	name
14702413	CV640632	single nucleotide variant	NM_021625.5(TRPV4):c.34C>T (p.Pro12Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV000806951]	uncertain significance	12	109814763	109814763	Human	1	name
14743479	CV656104	single nucleotide variant	NM_021625.5(TRPV4):c.724C>T (p.Leu242=)	not provided [RCV000842089]	likely benign	12	109800747	109800747	Human		name
15099772	CV683040	single nucleotide variant	NM_021625.5(TRPV4):c.29C>T (p.Ala10Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV001858528]\|Charcot-Marie-Tooth disease, type I [RCV000856937]\|Inborn genetic diseases [RCV002434053]\|not provided [RCV003222151]	uncertain significance	12	109814768	109814768	Human	3	name
15125973	CV684280	single nucleotide variant	NM_021625.5(TRPV4):c.981G>A (p.Ala327=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001480365]	likely benign	12	109798785	109798785	Human	1	name
15126317	CV684282	single nucleotide variant	NM_021625.5(TRPV4):c.732C>T (p.Ile244=)	Charcot-Marie-Tooth disease [RCV001173509]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000862732]\|not provided [RCV001576746]	likely benign	12	109800739	109800739	Human	2	name
15098675	CV687872	single nucleotide variant	NM_021625.5(TRPV4):c.759C>T (p.Tyr253=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001431783]	likely benign	12	109800712	109800712	Human	1	name
15100154	CV687873	single nucleotide variant	NM_021625.5(TRPV4):c.621C>T (p.Asn207=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001433119]	likely benign	12	109803082	109803082	Human	1	name
15122986	CV693139	single nucleotide variant	NM_021625.5(TRPV4):c.660C>T (p.Thr220=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001434902]\|not provided [RCV005231928]	likely benign	12	109803043	109803043	Human	1	name
15161979	CV753082	single nucleotide variant	NM_021625.5(TRPV4):c.921C>T (p.Asn307=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002544980]	likely benign	12	109798845	109798845	Human	1	name
15158701	CV753083	single nucleotide variant	NM_021625.5(TRPV4):c.915G>C (p.Thr305=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001491866]	likely benign	12	109798851	109798851	Human	1	name
15168857	CV753084	single nucleotide variant	NM_021625.5(TRPV4):c.726G>C (p.Leu242=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001504572]	likely benign	12	109800745	109800745	Human	1	name
15129366	CV753085	single nucleotide variant	NM_021625.5(TRPV4):c.393G>A (p.Gln131=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001438137]\|not provided [RCV003442131]	likely benign\|uncertain significance	12	109808462	109808462	Human	1	name
15111793	CV768884	single nucleotide variant	NM_021625.5(TRPV4):c.687G>C (p.Ser229=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001452090]	likely benign	12	109803016	109803016	Human	1	name
15122173	CV784270	single nucleotide variant	NM_021625.5(TRPV4):c.966C>T (p.Asn322=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001472926]	likely benign	12	109798800	109798800	Human	1	name
26901787	CV839289	single nucleotide variant	NM_021625.5(TRPV4):c.69T>G (p.Ser23Arg)	Charcot-Marie-Tooth disease axonal type 2C [RCV001060267]\|not provided [RCV001566728]	uncertain significance	12	109814728	109814728	Human	1	name
26900375	CV839290	single nucleotide variant	NM_021625.5(TRPV4):c.37G>C (p.Gly13Arg)	Charcot-Marie-Tooth disease axonal type 2C [RCV001050176]	uncertain significance	12	109814760	109814760	Human	1	name
34889713	CV905353	single nucleotide variant	NM_021625.5(TRPV4):c.834G>A (p.Glu278=)	Charcot-Marie-Tooth disease [RCV001172925]	likely benign	12	109800637	109800637	Human	1	name
34890065	CV905355	single nucleotide variant	NM_021625.5(TRPV4):c.615C>A (p.Gly205=)	Charcot-Marie-Tooth disease [RCV001173512]\|Charcot-Marie-Tooth disease axonal type 2C [RCV002067852]\|not provided [RCV001586020]	likely benign	12	109803088	109803088	Human	2	name
34890562	CV905357	single nucleotide variant	NM_021625.5(TRPV4):c.396G>T (p.Pro132=)	Charcot-Marie-Tooth disease [RCV001174120]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001443885]	likely benign	12	109808459	109808459	Human	2	name
126774649	CV1030644	duplication	NM_021625.5(TRPV4):c.573dup (p.Lys192fs)	Charcot-Marie-Tooth disease axonal type 2C [RCV001347470]	uncertain significance	12	109803129	109803130	Human	1	name
126771266	CV1030645	single nucleotide variant	NM_021625.5(TRPV4):c.245C>G (p.Pro82Arg)	Charcot-Marie-Tooth disease axonal type 2C [RCV001344936]\|not provided [RCV004770080]	uncertain significance	12	109814552	109814552	Human	1	name
126913357	CV1047661	single nucleotide variant	NM_021625.5(TRPV4):c.1989C>T (p.Ser663=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001370073]\|not provided [RCV003394012]	likely benign\|uncertain significance	12	109788619	109788619	Human	1	name
126920959	CV1047667	single nucleotide variant	NM_021625.5(TRPV4):c.190C>T (p.Arg64Ter)	Brachyrachia (short spine dysplasia) [RCV002493906]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001374116]\|not provided [RCV005256784]	uncertain significance	12	109814607	109814607	Human	11	name
126919905	CV1047668	single nucleotide variant	NM_021625.5(TRPV4):c.161C>G (p.Ala54Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV001373498]	uncertain significance	12	109814636	109814636	Human	1	name
127273880	CV1079093	single nucleotide variant	NM_021625.5(TRPV4):c.2421T>C (p.Tyr807=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001406185]	likely benign	12	109784353	109784353	Human	1	name
127232482	CV1079094	single nucleotide variant	NM_021625.5(TRPV4):c.2361C>T (p.His787=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001395707]	likely benign	12	109784413	109784413	Human	1	name
127247767	CV1079095	single nucleotide variant	NM_021625.5(TRPV4):c.1914G>A (p.Pro638=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001399197]	likely benign	12	109788694	109788694	Human	1	name
127274003	CV1079096	single nucleotide variant	NM_021625.5(TRPV4):c.1746G>C (p.Leu582=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001406215]	likely benign	12	109792730	109792730	Human	1	name
127283959	CV1079099	single nucleotide variant	NM_021625.5(TRPV4):c.1251G>A (p.Ser417=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001412122]	likely benign	12	109796606	109796606	Human	1	name
127254273	CV1079100	single nucleotide variant	NM_021625.5(TRPV4):c.1167C>T (p.Ile389=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001400769]	likely benign	12	109796690	109796690	Human	1	name
127255623	CV1079102	single nucleotide variant	NM_021625.5(TRPV4):c.179C>G (p.Pro60Arg)	Charcot-Marie-Tooth disease axonal type 2C [RCV001418804]	likely benign	12	109814618	109814618	Human	1	name
127237746	CV1100827	single nucleotide variant	NM_021625.5(TRPV4):c.2481C>T (p.Pro827=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001433608]\|not provided [RCV003394048]	likely benign	12	109783756	109783756	Human	1	name
127276767	CV1100830	single nucleotide variant	NM_021625.5(TRPV4):c.2184G>A (p.Glu728=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001443988]	likely benign	12	109788424	109788424	Human	1	name
127278719	CV1100831	single nucleotide variant	NM_021625.5(TRPV4):c.2125C>T (p.Leu709=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001445258]	likely benign	12	109788483	109788483	Human	1	name
127254539	CV1100832	single nucleotide variant	NM_021625.5(TRPV4):c.1869C>T (p.Leu623=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001426322]	likely benign	12	109792385	109792385	Human	1	name
127271491	CV1100833	single nucleotide variant	NM_021625.5(TRPV4):c.1698C>G (p.Leu566=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001430979]	likely benign	12	109792778	109792778	Human	1	name
127278064	CV1100834	single nucleotide variant	NM_021625.5(TRPV4):c.1626T>C (p.Ser542=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001444767]	likely benign	12	109793559	109793559	Human	1	name
127239682	CV1100835	single nucleotide variant	NM_021625.5(TRPV4):c.1458T>C (p.Thr486=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001434027]	likely benign	12	109794362	109794362	Human	1	name
127260294	CV1100836	single nucleotide variant	NM_021625.5(TRPV4):c.1281T>C (p.Cys427=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001438542]	likely benign	12	109796576	109796576	Human	1	name
127240563	CV1100837	single nucleotide variant	NM_021625.5(TRPV4):c.1218C>T (p.Phe406=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001434250]	likely benign	12	109796639	109796639	Human	1	name
127326156	CV1122282	single nucleotide variant	NM_021625.5(TRPV4):c.2568C>T (p.His856=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001468683]	likely benign	12	109783669	109783669	Human	1	name
127291681	CV1122283	single nucleotide variant	NM_021625.5(TRPV4):c.2550C>T (p.Asn850=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001451564]	likely benign	12	109783687	109783687	Human	1	name
127291300	CV1122284	single nucleotide variant	NM_021625.5(TRPV4):c.2418G>A (p.Gln806=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001451458]	likely benign	12	109784356	109784356	Human	1	name
127287435	CV1122285	single nucleotide variant	NM_021625.5(TRPV4):c.2349G>A (p.Val783=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001450110]\|not provided [RCV001762684]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109784425	109784425	Human	1	name
127311632	CV1122286	single nucleotide variant	NM_021625.5(TRPV4):c.2130C>A (p.Leu710=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001464198]	likely benign	12	109788478	109788478	Human	1	name
127328638	CV1122287	single nucleotide variant	NM_021625.5(TRPV4):c.1818C>T (p.Ile606=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001469666]	likely benign	12	109792658	109792658	Human	1	name
127288046	CV1122288	single nucleotide variant	NM_021625.5(TRPV4):c.1689A>G (p.Ser563=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001450346]	likely benign	12	109792787	109792787	Human	1	name
127321475	CV1143150	single nucleotide variant	NM_021625.5(TRPV4):c.2073C>T (p.Tyr691=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001484541]	likely benign	12	109788535	109788535	Human	1	name
127312276	CV1143151	single nucleotide variant	NM_021625.5(TRPV4):c.1878C>T (p.Ile626=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001501874]\|not specified [RCV004998935]	likely benign	12	109792376	109792376	Human	1	name
127334664	CV1143153	single nucleotide variant	NM_021625.5(TRPV4):c.1296C>T (p.Ser432=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001491001]\|not specified [RCV004801026]	likely benign	12	109796561	109796561	Human	1	name
127331309	CV1143154	single nucleotide variant	NM_021625.5(TRPV4):c.1170C>T (p.Ile390=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001488712]	likely benign	12	109796687	109796687	Human	1	name
127312767	CV1143155	single nucleotide variant	NM_021625.5(TRPV4):c.1092C>T (p.Ala364=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001481762]\|not provided [RCV003120615]	likely benign	12	109798674	109798674	Human	1	name
127304519	CV1143156	single nucleotide variant	NM_021625.5(TRPV4):c.1005C>G (p.Thr335=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001479521]	likely benign	12	109798761	109798761	Human	1	name
150432257	CV1246231	single nucleotide variant	NM_021625.5(TRPV4):c.2256G>A (p.Leu752=)	not provided [RCV001663644]	uncertain significance	12	109786790	109786790	Human		name
150489705	CV1274468	single nucleotide variant	NM_021625.5(TRPV4):c.2010C>T (p.Leu670=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002539696]\|not provided [RCV001700528]	likely benign	12	109788598	109788598	Human	1	name
150550875	CV1308598	single nucleotide variant	NM_021625.5(TRPV4):c.272A>G (p.Tyr91Cys)	not provided [RCV001766102]	uncertain significance	12	109814525	109814525	Human		name
151235440	CV1318755	single nucleotide variant	NM_021625.5(TRPV4):c.245C>T (p.Pro82Leu)	TRPV4-related bone disorder [RCV001795573]	pathogenic	12	109814552	109814552	Human		name
151749765	CV1357247	deletion	NM_021625.5(TRPV4):c.839del (p.Gly280fs)	Charcot-Marie-Tooth disease axonal type 2C [RCV001872137]	uncertain significance	12	109800632	109800632	Human		name
151858388	CV1377607	single nucleotide variant	NM_021625.5(TRPV4):c.250G>A (p.Asp84Asn)	Charcot-Marie-Tooth disease axonal type 2C [RCV001938231]	uncertain significance	12	109814547	109814547	Human	1	name
8691468	CV141428	single nucleotide variant	NM_021625.5(TRPV4):c.2034C>T (p.Ile678=)	Brachyrachia (short spine dysplasia) [RCV000306590]\|Charcot-Marie-Tooth disease [RCV001172928]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000860478]\|Metatropic dysplasia [RCV000394307]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000398554]\|Scapuloperoneal spinal muscular atro ... (more) phy [RCV000361675]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000302274]\|not provided [RCV004708025]\|not specified [RCV000125617]	benign	12	109788574	109788574	Human	8	name
151730024	CV1441057	single nucleotide variant	NM_021625.5(TRPV4):c.191G>A (p.Arg64Gln)	Charcot-Marie-Tooth disease axonal type 2C [RCV001945942]\|Inborn genetic diseases [RCV002560560]\|not provided [RCV003482385]	uncertain significance	12	109814606	109814606	Human	2	name
151729128	CV1483105	single nucleotide variant	NM_021625.5(TRPV4):c.239C>T (p.Pro80Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV001892059]	uncertain significance	12	109814558	109814558	Human	1	name
151848297	CV1484158	single nucleotide variant	NM_021625.5(TRPV4):c.242A>G (p.Asn81Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV001903747]	uncertain significance	12	109814555	109814555	Human	1	name
152059844	CV1532795	single nucleotide variant	NM_021625.5(TRPV4):c.2238C>T (p.Arg746=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002208519]	likely benign	12	109786808	109786808	Human	1	name
152058719	CV1535953	single nucleotide variant	NM_021625.5(TRPV4):c.1053C>G (p.Leu351=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002146532]\|TRPV4-related disorder [RCV004548207]	likely benign	12	109798713	109798713	Human	1	name , alternate_id
152059762	CV1540523	single nucleotide variant	NM_021625.5(TRPV4):c.1509C>T (p.Arg503=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002109969]	likely benign	12	109794005	109794005	Human	1	name
152060678	CV1540821	single nucleotide variant	NM_021625.5(TRPV4):c.1515G>C (p.Thr505=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002190486]	likely benign	12	109793999	109793999	Human	1	name
152081022	CV1546658	single nucleotide variant	NM_021625.5(TRPV4):c.1563G>T (p.Gly521=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002130815]	likely benign	12	109793951	109793951	Human	1	name
152120927	CV1547486	single nucleotide variant	NM_021625.5(TRPV4):c.2454C>G (p.Arg818=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002081541]	likely benign	12	109784320	109784320	Human	1	name
152171599	CV1552816	single nucleotide variant	NM_021625.5(TRPV4):c.1713C>T (p.Ile571=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002143498]	likely benign	12	109792763	109792763	Human	1	name
152115640	CV1553847	single nucleotide variant	NM_021625.5(TRPV4):c.1206G>T (p.Leu402=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002117148]	likely benign	12	109796651	109796651	Human	1	name
152171373	CV1562392	single nucleotide variant	NM_021625.5(TRPV4):c.1773C>T (p.Tyr591=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002183477]	likely benign	12	109792703	109792703	Human	1	name
152151426	CV1578159	single nucleotide variant	NM_021625.5(TRPV4):c.1443C>G (p.Ala481=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002158252]	likely benign	12	109794377	109794377	Human	1	name
152053796	CV1595977	single nucleotide variant	NM_021625.5(TRPV4):c.1608A>G (p.Lys536=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002072695]	likely benign	12	109793577	109793577	Human	1	name
152092607	CV1596187	single nucleotide variant	NM_021625.5(TRPV4):c.1503T>C (p.Pro501=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002077913]	likely benign	12	109794011	109794011	Human	1	name
152087122	CV1602460	single nucleotide variant	NM_021625.5(TRPV4):c.2136C>T (p.Asn712=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002113544]	likely benign	12	109788472	109788472	Human	1	name
152146071	CV1615242	single nucleotide variant	NM_021625.5(TRPV4):c.2091C>T (p.Ile697=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002101492]	likely benign	12	109788517	109788517	Human	1	name
152147548	CV1618717	single nucleotide variant	NM_021625.5(TRPV4):c.2496G>C (p.Leu832=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002121284]	likely benign	12	109783741	109783741	Human	1	name
152140894	CV1619606	single nucleotide variant	NM_021625.5(TRPV4):c.1497G>T (p.Pro499=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002200558]	likely benign	12	109794017	109794017	Human	1	name
152112547	CV1623667	single nucleotide variant	NM_021625.5(TRPV4):c.1110C>A (p.Gly370=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002134670]	likely benign	12	109798656	109798656	Human	1	name
152105005	CV1645532	single nucleotide variant	NM_021625.5(TRPV4):c.2217C>G (p.Thr739=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002133733]	likely benign	12	109786829	109786829	Human	1	name
152146171	CV1649493	single nucleotide variant	NM_021625.5(TRPV4):c.2193C>T (p.His731=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002121073]	likely benign	12	109788415	109788415	Human	1	name
152098120	CV1650296	single nucleotide variant	NM_021625.5(TRPV4):c.1206G>A (p.Leu402=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002114970]	likely benign	12	109796651	109796651	Human	1	name
152170819	CV1651333	single nucleotide variant	NM_021625.5(TRPV4):c.1554C>T (p.Leu518=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002143243]	likely benign	12	109793960	109793960	Human	1	name
152124038	CV1660463	single nucleotide variant	NM_021625.5(TRPV4):c.2385C>T (p.Ile795=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002154630]	likely benign	12	109784389	109784389	Human	1	name
153347842	CV1694890	single nucleotide variant	NM_021625.5(TRPV4):c.2142C>T (p.Leu714=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003611577]\|Connective tissue disorder [RCV002278821]	likely benign\|uncertain significance	12	109788466	109788466	Human	2	name
155642034	CV1707219	single nucleotide variant	NM_021625.5(TRPV4):c.243C>A (p.Asn81Lys)	not provided [RCV002288149]	uncertain significance	12	109814554	109814554	Human		name
155671456	CV1844329	single nucleotide variant	NM_021625.5(TRPV4):c.223T>C (p.Phe75Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV003101158]\|Inborn genetic diseases [RCV002420178]	uncertain significance	12	109814574	109814574	Human	2	name
156048852	CV1868898	duplication	NM_021625.5(TRPV4):c.845dup (p.Tyr283fs)	Charcot-Marie-Tooth disease axonal type 2C [RCV003052927]	uncertain significance	12	109800625	109800626	Human	1	name
156391090	CV1879507	single nucleotide variant	NM_021625.5(TRPV4):c.2526G>A (p.Val842=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003068029]	likely benign	12	109783711	109783711	Human	1	name
156332230	CV1884551	single nucleotide variant	NM_021625.5(TRPV4):c.2133C>A (p.Leu711=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003089868]	likely benign	12	109788475	109788475	Human	1	name
156274850	CV1900163	single nucleotide variant	NM_021625.5(TRPV4):c.113A>G (p.Asn38Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV003086916]	uncertain significance	12	109814684	109814684	Human	1	name
156370853	CV1905337	duplication	NM_021625.5(TRPV4):c.895dup (p.His299fs)	Charcot-Marie-Tooth disease axonal type 2C [RCV003092415]	uncertain significance	12	109798870	109798871	Human	1	name
155931026	CV1909083	single nucleotide variant	NM_021625.5(TRPV4):c.2508G>T (p.Ser836=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002614994]	likely benign	12	109783729	109783729	Human	1	name
10050106	CV191423	single nucleotide variant	NM_021625.5(TRPV4):c.2106C>T (p.Tyr702=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001480382]\|Inborn genetic diseases [RCV002415743]\|not provided [RCV000174590]	likely benign\|uncertain significance	12	109788502	109788502	Human	2	name
156066932	CV1927909	single nucleotide variant	NM_021625.5(TRPV4):c.2313T>A (p.Thr771=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002638474]	likely benign	12	109786733	109786733	Human	1	name
156410617	CV1932460	single nucleotide variant	NM_021625.5(TRPV4):c.2523G>A (p.Val841=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002607923]	likely benign	12	109783714	109783714	Human	1	name
156072660	CV1959433	single nucleotide variant	NM_021625.5(TRPV4):c.2334C>T (p.Phe778=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002569651]	uncertain significance	12	109786712	109786712	Human	1	name
156326934	CV1972778	single nucleotide variant	NM_021625.5(TRPV4):c.1857C>A (p.Leu619=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002600581]	likely benign	12	109792397	109792397	Human	1	name
156053090	CV1974449	single nucleotide variant	NM_021625.5(TRPV4):c.125G>T (p.Gly42Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV002590724]	uncertain significance	12	109814672	109814672	Human	1	name
156286708	CV2001769	single nucleotide variant	NM_021625.5(TRPV4):c.1266C>G (p.Ser422=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002647036]	likely benign	12	109796591	109796591	Human	1	name
156376580	CV2024778	single nucleotide variant	NM_021625.5(TRPV4):c.1497G>A (p.Pro499=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002721974]	likely benign	12	109794017	109794017	Human	1	name
155945916	CV2028876	single nucleotide variant	NM_021625.5(TRPV4):c.1491A>C (p.Thr497=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002730399]	uncertain significance	12	109794329	109794329	Human	1	name
156135561	CV2044336	duplication	NM_021625.5(TRPV4):c.352dup (p.Ser118fs)	Charcot-Marie-Tooth disease axonal type 2C [RCV002786333]	uncertain significance	12	109814444	109814445	Human	1	name
155911370	CV2069513	single nucleotide variant	NM_021625.5(TRPV4):c.2301C>T (p.Ser767=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002837743]	likely benign	12	109786745	109786745	Human	1	name
156057094	CV2102095	single nucleotide variant	NM_021625.5(TRPV4):c.243C>G (p.Asn81Lys)	Charcot-Marie-Tooth disease axonal type 2C [RCV002886367]	uncertain significance	12	109814554	109814554	Human	1	name
10408685	CV212983	single nucleotide variant	NM_021625.5(TRPV4):c.1308C>T (p.Ile436=)	Brachyrachia (short spine dysplasia) [RCV000270356]\|Charcot-Marie-Tooth disease [RCV001173500]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000197137]\|Connective tissue disorder [RCV002277549]\|Inborn genetic diseases [RCV002381679]\|Metatropic dysplasia [RCV000379962]\|Neuronopathy, distal hereditar ... (more) y motor, autosomal dominant 8 [RCV000340462]\|Scapuloperoneal spinal muscular atrophy [RCV000376378]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000285469]\|not provided [RCV000424117]	benign\|likely benign	12	109796549	109796549	Human	10	name
10405896	CV212986	single nucleotide variant	NM_021625.5(TRPV4):c.281C>T (p.Ser94Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV000199358]\|Inborn genetic diseases [RCV002433891]\|not provided [RCV000413068]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109814516	109814516	Human	2	name
10408735	CV212987	single nucleotide variant	NM_021625.5(TRPV4):c.152C>T (p.Pro51Leu)	Brachyrachia (short spine dysplasia) [RCV000345891]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000198119]\|Inborn genetic diseases [RCV002399741]\|Metatropic dysplasia [RCV000306416]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000403939]\|Scapuloperoneal spinal muscular atrophy ... (more) [RCV000385405]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000293429]\|not provided [RCV001711977]\|not specified [RCV000516285]	benign\|likely benign	12	109814645	109814645	Human	8	name
155966565	CV2180123	single nucleotide variant	NM_021625.5(TRPV4):c.286G>T (p.Val96Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV003033195]	uncertain significance	12	109814511	109814511	Human	1	name
10767457	CV222200	single nucleotide variant	NM_021625.5(TRPV4):c.2433G>C (p.Ser811=)	Brachyrachia (short spine dysplasia) [RCV000291574]\|Charcot-Marie-Tooth disease [RCV001172943]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000204746]\|Connective tissue disorder [RCV002277564]\|Inborn genetic diseases [RCV002453739]\|Metatropic dysplasia [RCV000346606]\|Neuronopathy, distal hereditar ... (more) y motor, autosomal dominant 8 [RCV000395892]\|Scapuloperoneal spinal muscular atrophy [RCV000395902]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000352499]\|not provided [RCV001594871]\|not specified [RCV000242020]	benign\|likely benign	12	109784341	109784341	Human	10	name
155929022	CV2224483	single nucleotide variant	NM_021625.5(TRPV4):c.210G>C (p.Lys70Asn)	Inborn genetic diseases [RCV002728494]	uncertain significance	12	109814587	109814587	Human	1	name
11094392	CV231826	single nucleotide variant	NM_021625.5(TRPV4):c.290C>G (p.Pro97Arg)	Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789593]\|not provided [RCV000221001]	pathogenic\|likely pathogenic\|uncertain significance	12	109814507	109814507	Human	1	name
11350981	CV237347	single nucleotide variant	NM_021625.5(TRPV4):c.114T>A (p.Asn38Lys)	Charcot-Marie-Tooth disease axonal type 2C [RCV000549708]\|not provided [RCV000224735]	conflicting interpretations of pathogenicity\|uncertain significance	12	109814683	109814683	Human	1	name
243051580	CV2403942	single nucleotide variant	NM_021625.5(TRPV4):c.259G>C (p.Glu87Gln)	not provided [RCV003129008]	uncertain significance	12	109814538	109814538	Human		name
243064230	CV2411277	single nucleotide variant	NM_021625.5(TRPV4):c.155C>T (p.Ala52Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV003611629]\|not provided [RCV003142849]	uncertain significance	12	109814642	109814642	Human	1	name
11350238	CV241230	single nucleotide variant	NM_021625.5(TRPV4):c.1581C>T (p.Thr527=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000233847]\|Inborn genetic diseases [RCV002401903]\|TRPV4-related disorder [RCV004547613]\|not provided [RCV001705283]	benign\|likely benign	12	109793933	109793933	Human	2	name , alternate_id
11345995	CV241232	single nucleotide variant	NM_021625.5(TRPV4):c.1341C>T (p.His447=)	Brachyrachia (short spine dysplasia) [RCV000263274]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001081465]\|Inborn genetic diseases [RCV002379020]\|Metatropic dysplasia [RCV000355661]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000320824]\|Scapuloperoneal spinal muscular atrophy ... (more) [RCV000377781]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000259589]\|not provided [RCV000713878]\|not specified [RCV000248406]	benign\|likely benign	12	109794479	109794479	Human	8	name
11346199	CV241235	single nucleotide variant	NM_021625.5(TRPV4):c.159T>A (p.Asp53Glu)	Charcot-Marie-Tooth disease axonal type 2C [RCV000227661]	uncertain significance	12	109814638	109814638	Human	1	name
11523153	CV244717	single nucleotide variant	NM_021625.5(TRPV4):c.1539C>T (p.Gly513=)	Brachyrachia (short spine dysplasia) [RCV000304809]\|Charcot-Marie-Tooth disease [RCV001173495]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000553583]\|Metatropic dysplasia [RCV000394470]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000394464]\|Scapuloperoneal spinal muscular atro ... (more) phy [RCV000281750]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000339927]\|not provided [RCV001705301]	benign\|likely benign\|uncertain significance	12	109793975	109793975	Human	8	name
11551927	CV254402	single nucleotide variant	NM_021625.5(TRPV4):c.1744C>T (p.Leu582=)	Brachyrachia (short spine dysplasia) [RCV001111684]\|Charcot-Marie-Tooth disease [RCV001172945]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001086858]\|Connective tissue disorder [RCV002278214]\|Inborn genetic diseases [RCV002401963]\|Metatropic dysplasia [RCV001109366]\|Neuronopathy, distal hereditar ... (more) y motor, autosomal dominant 8 [RCV001109365]\|Scapuloperoneal spinal muscular atrophy [RCV001109363]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV001109364]\|not provided [RCV000756821]\|not specified [RCV000253692]	benign\|likely benign	12	109792732	109792732	Human	10	name
11636754	CV268162	single nucleotide variant	NM_021625.5(TRPV4):c.1233T>C (p.Tyr411=)	Inborn genetic diseases [RCV002365309]\|not provided [RCV000274199]	likely benign\|uncertain significance	12	109796624	109796624	Human	1	name
11637493	CV268612	single nucleotide variant	NM_021625.5(TRPV4):c.1284G>A (p.Gly428=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000863198]\|Inborn genetic diseases [RCV002379126]\|not provided [RCV001718576]\|not specified [RCV000285750]	benign\|likely benign	12	109796573	109796573	Human	2	name
401901854	CV2804550	single nucleotide variant	NM_021625.5(TRPV4):c.278C>T (p.Ser93Phe)	TRPV4-related disorder [RCV004554108]	uncertain significance	12	109814519	109814519	Human		name , trait , alternate_id
401932351	CV2816822	single nucleotide variant	NM_021625.5(TRPV4):c.2382C>T (p.Ile794=)	not provided [RCV003391994]	likely benign	12	109784392	109784392	Human		name
401929599	CV2816823	single nucleotide variant	NM_021625.5(TRPV4):c.1614T>G (p.Pro538=)	not provided [RCV003390293]	likely benign	12	109793571	109793571	Human		name
401932352	CV2816824	single nucleotide variant	NM_021625.5(TRPV4):c.1011G>A (p.Glu337=)	not provided [RCV003391995]	likely benign	12	109798755	109798755	Human		name
401917381	CV2829833	single nucleotide variant	NM_021625.5(TRPV4):c.221C>T (p.Ala74Val)	not provided [RCV003443877]	uncertain significance	12	109814576	109814576	Human		name
402474730	CV2858322	single nucleotide variant	NM_021625.5(TRPV4):c.1359G>A (p.Glu453=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003505493]	likely benign	12	109794461	109794461	Human	1	name
402474724	CV2861682	single nucleotide variant	NM_021625.5(TRPV4):c.213C>G (p.Phe71Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV003505492]	uncertain significance	12	109814584	109814584	Human	1	name
402474934	CV2862098	single nucleotide variant	NM_021625.5(TRPV4):c.125G>A (p.Gly42Glu)	Charcot-Marie-Tooth disease axonal type 2C [RCV003505530]	uncertain significance	12	109814672	109814672	Human	1	name
402473961	CV2863447	single nucleotide variant	NM_021625.5(TRPV4):c.2598T>G (p.Thr866=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003505349]	likely benign	12	109783639	109783639	Human	1	name
402483260	CV2896471	single nucleotide variant	NM_021625.5(TRPV4):c.238C>T (p.Pro80Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV003506718]\|Inborn genetic diseases [RCV004369328]	uncertain significance	12	109814559	109814559	Human	2	name
402482942	CV2906242	single nucleotide variant	NM_021625.5(TRPV4):c.1416C>T (p.Tyr472=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003506684]	likely benign	12	109794404	109794404	Human	1	name
402471574	CV2918645	single nucleotide variant	NM_021625.5(TRPV4):c.1494G>A (p.Pro498=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003504705]	likely benign	12	109794020	109794020	Human	1	name
405066028	CV2938931	single nucleotide variant	NM_021625.5(TRPV4):c.247A>G (p.Ile83Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV003611808]	uncertain significance	12	109814550	109814550	Human	1	name
405064493	CV2943466	single nucleotide variant	NM_021625.5(TRPV4):c.1935C>T (p.Cys645=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003611687]	likely benign	12	109788673	109788673	Human	1	name
405077441	CV2968156	single nucleotide variant	NM_021625.5(TRPV4):c.1263C>G (p.Leu421=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612605]	likely benign	12	109796594	109796594	Human	1	name
405082571	CV2998419	single nucleotide variant	NM_021625.5(TRPV4):c.1083C>T (p.Asn361=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003613061]	likely benign	12	109798683	109798683	Human	1	name
405084816	CV3004392	deletion	NM_021625.5(TRPV4):c.949del (p.Gln317fs)	Charcot-Marie-Tooth disease axonal type 2C [RCV003613237]	uncertain significance	12	109798817	109798817	Human	1	name
405084988	CV3012000	single nucleotide variant	NM_021625.5(TRPV4):c.1140G>A (p.Thr380=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003613251]	likely benign	12	109798626	109798626	Human	1	name
405087917	CV3024992	single nucleotide variant	NM_021625.5(TRPV4):c.2457G>A (p.Arg819=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003613489]	uncertain significance	12	109784317	109784317	Human	1	name
405059789	CV3035683	single nucleotide variant	NM_021625.5(TRPV4):c.1932G>A (p.Val644=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003611223]	likely benign	12	109788676	109788676	Human	1	name
405062795	CV3045470	single nucleotide variant	NM_021625.5(TRPV4):c.1008T>G (p.Arg336=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003611480]	likely benign	12	109798758	109798758	Human	1	name
405071056	CV3067181	single nucleotide variant	NM_021625.5(TRPV4):c.1191G>A (p.Glu397=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612050]	likely benign	12	109796666	109796666	Human	1	name
405071603	CV3069587	single nucleotide variant	NM_021625.5(TRPV4):c.1269C>T (p.Ser423=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612197]	likely benign	12	109796588	109796588	Human	1	name
405074045	CV3071066	single nucleotide variant	NM_021625.5(TRPV4):c.2169C>T (p.Gly723=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612369]	likely benign	12	109788439	109788439	Human	1	name
405074017	CV3074006	single nucleotide variant	NM_021625.5(TRPV4):c.227G>A (p.Arg76His)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612367]	uncertain significance	12	109814570	109814570	Human	1	name
405103729	CV3116339	single nucleotide variant	NM_021625.5(TRPV4):c.1941G>A (p.Glu647=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003812055]	likely benign	12	109788667	109788667	Human	1	name
405193504	CV3146052	single nucleotide variant	NM_021625.5(TRPV4):c.1005C>T (p.Thr335=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003843599]	likely benign	12	109798761	109798761	Human	1	name
11601455	CV315984	single nucleotide variant	NM_021625.5(TRPV4):c.2043C>T (p.Gly681=)	Brachyrachia (short spine dysplasia) [RCV000389332]\|Charcot-Marie-Tooth disease [RCV001174135]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000645571]\|Inborn genetic diseases [RCV002418157]\|Metatropic dysplasia [RCV000329896]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV00033590 ... (more) 1]\|Scapuloperoneal spinal muscular atrophy [RCV000394310]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000295043]\|not provided [RCV001711784]\|not specified [RCV000424926]	benign\|likely benign	12	109788565	109788565	Human	9	name
405244168	CV3161211	single nucleotide variant	NM_021625.5(TRPV4):c.1797G>A (p.Thr599=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003868120]\|not provided [RCV005426245]	likely benign	12	109792679	109792679	Human	1	name
402500515	CV3170525	single nucleotide variant	NM_021625.5(TRPV4):c.2163A>G (p.Thr721=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003877898]	likely benign	12	109788445	109788445	Human	1	name
402472348	CV3171768	single nucleotide variant	NM_021625.5(TRPV4):c.1425G>A (p.Val475=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003874552]	likely benign	12	109794395	109794395	Human	1	name
402472403	CV3171782	single nucleotide variant	NM_021625.5(TRPV4):c.1084C>T (p.Leu362=)	Charcot-Marie-Tooth disease axonal type 2C [RCV003874566]	likely benign	12	109798682	109798682	Human	1	name
404995898	CV3172837	single nucleotide variant	NM_021625.5(TRPV4):c.220G>A (p.Ala74Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV003882119]\|Inborn genetic diseases [RCV005291076]	uncertain significance	12	109814577	109814577	Human	2	name
11599303	CV323248	single nucleotide variant	NM_021625.5(TRPV4):c.205A>C (p.Met69Leu)	Brachyrachia (short spine dysplasia) [RCV000326640]\|Charcot-Marie-Tooth disease [RCV001172892]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000792477]\|Connective tissue disorder [RCV002278390]\|Inborn genetic diseases [RCV002418158]\|Metatropic dysplasia [RCV000360409]\|Neuronopathy, distal hereditar ... (more) y motor, autosomal dominant 8 [RCV000309318]\|Scapuloperoneal spinal muscular atrophy [RCV000366323]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000264430]\|not specified [RCV004999282]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109814592	109814592	Human	10	name
11614942	CV329271	single nucleotide variant	NM_021625.5(TRPV4):c.2517C>T (p.Asp839=)	Brachyrachia (short spine dysplasia) [RCV000281081]\|Charcot-Marie-Tooth disease [RCV001174136]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000375552]\|Metatropic dysplasia [RCV000376828]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000340731]\|Scapuloperoneal spinal muscular atro ... (more) phy [RCV000342081]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000287039]	benign\|likely benign	12	109783720	109783720	Human	8	name
11612540	CV329273	single nucleotide variant	NM_021625.5(TRPV4):c.2484C>T (p.Arg828=)	Brachyolmia [RCV000320114]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001442996]\|Charcot-Marie-Tooth disease type 2 [RCV000374803]\|Inborn genetic diseases [RCV002429259]\|Metatropic dysplasia [RCV000276872]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000313341]\|Scapuloperoneal ... (more) spinal muscular atrophy [RCV000354146]\|Spondylometaphyseal dysplasia [RCV000260257]\|not provided [RCV000843680]	likely benign	12	109783753	109783753	Human	9	name
11614435	CV330460	single nucleotide variant	NM_021625.5(TRPV4):c.1455C>T (p.Phe485=)	Brachyrachia (short spine dysplasia) [RCV000276767]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000866935]\|Inborn genetic diseases [RCV002392846]\|Metatropic dysplasia [RCV000372413]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000368551]\|Scapuloperoneal spinal muscular atrophy ... (more) [RCV000318787]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000334161]\|not provided [RCV003389783]	benign\|likely benign	12	109794365	109794365	Human	8	name
408369588	CV3513775	single nucleotide variant	NM_021625.5(TRPV4):c.1185G>A (p.Thr395=)	TRPV4-related disorder [RCV004737066]	likely benign	12	109796672	109796672	Human		name , trait , alternate_id
12843042	CV372518	single nucleotide variant	NM_021625.5(TRPV4):c.2559C>T (p.Cys853=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001479007]\|Inborn genetic diseases [RCV002436333]\|not provided [RCV000726593]\|not specified [RCV000435520]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109783678	109783678	Human	2	name
12837169	CV372520	single nucleotide variant	NM_021625.5(TRPV4):c.2226G>A (p.Leu742=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002521776]\|Inborn genetic diseases [RCV002429411]\|not specified [RCV000424702]	likely benign	12	109786820	109786820	Human	2	name
12848020	CV372526	single nucleotide variant	NM_021625.5(TRPV4):c.2088C>T (p.Ile696=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001501718]\|Inborn genetic diseases [RCV002418264]\|not provided [RCV001703632]	likely benign	12	109788520	109788520	Human	2	name
12838003	CV372821	single nucleotide variant	NM_021625.5(TRPV4):c.1857C>T (p.Leu619=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001448717]\|Inborn genetic diseases [RCV002411365]\|not specified [RCV000426171]	likely benign	12	109792397	109792397	Human	2	name
12844328	CV372840	single nucleotide variant	NM_021625.5(TRPV4):c.1464C>T (p.Thr488=)	Charcot-Marie-Tooth disease [RCV001174123]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000538437]\|Inborn genetic diseases [RCV002392973]\|not provided [RCV001703633]\|not specified [RCV000437801]	benign\|likely benign	12	109794356	109794356	Human	3	name
12836278	CV372841	single nucleotide variant	NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=)	Brachyrachia (short spine dysplasia) [RCV001112515]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001112517]\|Inborn genetic diseases [RCV002393013]\|Metatropic dysplasia [RCV001112516]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001112514]\|Scapuloperoneal spinal muscular atrophy ... (more) [RCV001113853]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV001112518]\|not specified [RCV000423115]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109798728	109798728	Human	8	name
12847304	CV374497	single nucleotide variant	NM_021625.5(TRPV4):c.2604C>T (p.Asp868=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001415640]\|Inborn genetic diseases [RCV002429440]\|not specified [RCV000443251]	likely benign	12	109783633	109783633	Human	2	name
12835228	CV374513	single nucleotide variant	NM_021625.5(TRPV4):c.2472G>A (p.Ser824=)	Brachyrachia (short spine dysplasia) [RCV001114680]\|Charcot-Marie-Tooth disease [RCV001173511]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000544471]\|Inborn genetic diseases [RCV002446657]\|Metatropic dysplasia [RCV001114681]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV00111330 ... (more) 8]\|Scapuloperoneal spinal muscular atrophy [RCV001114679]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV001114678]\|not provided [RCV001171894]\|not specified [RCV004999382]	benign\|likely benign	12	109783765	109783765	Human	9	name
12834766	CV374550	single nucleotide variant	NM_021625.5(TRPV4):c.1116G>A (p.Ser372=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000874112]\|Inborn genetic diseases [RCV002436350]\|not specified [RCV000420522]	likely benign	12	109798650	109798650	Human	2	name
12838506	CV374553	single nucleotide variant	NM_021625.5(TRPV4):c.1062C>T (p.Ala354=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645563]\|Inborn genetic diseases [RCV002411347]\|not provided [RCV001697806]	likely benign	12	109798704	109798704	Human	2	name
12848189	CV374554	single nucleotide variant	NM_021625.5(TRPV4):c.143C>T (p.Ser48Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV001851063]\|Inborn genetic diseases [RCV002393035]\|not provided [RCV001288531]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109814654	109814654	Human	2	name
597912860	CV3745760	single nucleotide variant	NM_021625.5(TRPV4):c.1695C>T (p.Ala565=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005073761]	likely benign	12	109792781	109792781	Human	1	name
597970955	CV3750580	single nucleotide variant	NM_021625.5(TRPV4):c.139C>G (p.Leu47Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV005084324]	uncertain significance	12	109814658	109814658	Human	1	name
597965157	CV3751102	single nucleotide variant	NM_021625.5(TRPV4):c.2007C>T (p.Phe669=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005082664]	likely benign	12	109788601	109788601	Human	1	name
597835136	CV3760909	single nucleotide variant	NM_021625.5(TRPV4):c.1893C>T (p.Ala631=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005085460]	likely benign	12	109788715	109788715	Human	1	name
597948171	CV3771843	single nucleotide variant	NM_021625.5(TRPV4):c.1968T>G (p.Thr656=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005120369]	likely benign	12	109788640	109788640	Human	1	name
597907980	CV3781471	single nucleotide variant	NM_021625.5(TRPV4):c.1344G>A (p.Glu448=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005128159]	likely benign	12	109794476	109794476	Human	1	name
597975142	CV3798763	single nucleotide variant	NM_021625.5(TRPV4):c.1278G>C (p.Thr426=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005144352]	likely benign	12	109796579	109796579	Human	1	name
597870929	CV3799918	single nucleotide variant	NM_021625.5(TRPV4):c.1116G>T (p.Ser372=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005148332]	likely benign	12	109798650	109798650	Human	1	name
597873149	CV3805442	single nucleotide variant	NM_021625.5(TRPV4):c.1203C>T (p.His401=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005148720]	likely benign	12	109796654	109796654	Human	1	name
597954296	CV3812692	single nucleotide variant	NM_021625.5(TRPV4):c.1569G>A (p.Leu523=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005161966]	likely benign	12	109793945	109793945	Human	1	name
597831105	CV3820219	single nucleotide variant	NM_021625.5(TRPV4):c.244C>T (p.Pro82Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV005169996]	uncertain significance	12	109814553	109814553	Human	1	name
597976097	CV3829098	single nucleotide variant	NM_021625.5(TRPV4):c.2415C>T (p.Tyr805=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005169547]	likely benign	12	109784359	109784359	Human	1	name
597927847	CV3837010	single nucleotide variant	NM_021625.5(TRPV4):c.1594T>C (p.Leu532=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005185361]	likely benign	12	109793591	109793591	Human	1	name
597868012	CV3838783	single nucleotide variant	NM_021625.5(TRPV4):c.2325G>A (p.Arg775=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005176079]	likely benign	12	109786721	109786721	Human	1	name
597964506	CV3848071	single nucleotide variant	NM_021625.5(TRPV4):c.134G>T (p.Gly45Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV005193950]	uncertain significance	12	109814663	109814663	Human	1	name
597896588	CV3854079	single nucleotide variant	NM_021625.5(TRPV4):c.1464C>A (p.Thr488=)	Charcot-Marie-Tooth disease axonal type 2C [RCV005201363]	likely benign	12	109794356	109794356	Human	1	name
598215512	CV3932297	single nucleotide variant	NM_021625.5(TRPV4):c.120T>G (p.Phe40Leu)	Inborn genetic diseases [RCV005292741]	uncertain significance	12	109814677	109814677	Human	1	name
8602231	CV39427	single nucleotide variant	NM_021625.5(TRPV4):c.266C>T (p.Thr89Ile)	Metatropic dysplasia [RCV000023427]\|Skeletal dysplasia [RCV000202521]\|TRPV4-related disorder [RCV004549386]	pathogenic\|not provided	12	109814531	109814531	Human	3	name , alternate_id
8602235	CV39431	single nucleotide variant	NM_021625.5(TRPV4):c.232G>T (p.Gly78Trp)	Metatropic dysplasia [RCV000023431]\|Skeletal dysplasia [RCV000202458]	pathogenic\|not provided	12	109814565	109814565	Human	3	name
12891073	CV398522	single nucleotide variant	NM_021625.5(TRPV4):c.1449C>G (p.Val483=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000475882]\|Inborn genetic diseases [RCV002393202]	likely benign	12	109794371	109794371	Human	2	name
12888924	CV398944	single nucleotide variant	NM_021625.5(TRPV4):c.2508G>A (p.Ser836=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000471842]\|Inborn genetic diseases [RCV002431362]	likely benign	12	109783729	109783729	Human	2	name
617153673	CV4016747	single nucleotide variant	NM_021625.5(TRPV4):c.2455A>C (p.Arg819=)	not provided [RCV005415844]	uncertain significance	12	109784319	109784319	Human		name
12899678	CV408517	deletion	NM_021625.5(TRPV4):c.478del (p.Arg160fs)	Charcot-Marie-Tooth disease axonal type 2C [RCV002526649]\|Inborn genetic diseases [RCV003372727]\|not provided [RCV000480728]	uncertain significance	12	109808377	109808377	Human	2	name
12905601	CV413353	single nucleotide variant	NM_021625.5(TRPV4):c.1515G>A (p.Thr505=)	Inborn genetic diseases [RCV002395182]\|not provided [RCV000487722]	likely benign\|uncertain significance	12	109793999	109793999	Human	1	name
13477209	CV441500	single nucleotide variant	NM_021625.5(TRPV4):c.2076C>T (p.Pro692=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001397435]\|Inborn genetic diseases [RCV002420302]\|not specified [RCV000516305]	benign\|likely benign	12	109788532	109788532	Human	2	name
13480741	CV461598	single nucleotide variant	NM_021625.5(TRPV4):c.1398C>T (p.Phe466=)	Brachyrachia (short spine dysplasia) [RCV001113674]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001086701]\|Inborn genetic diseases [RCV002395417]\|Metatropic dysplasia [RCV001113677]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001113678]\|Scapuloperoneal spinal muscular atrophy ... (more) [RCV001113675]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV001113676]\|TRPV4-related disorder [RCV004553237]\|not provided [RCV000528654]\|not specified [RCV000608498]	benign\|likely benign	12	109794422	109794422	Human	8	name , alternate_id
13481862	CV462170	single nucleotide variant	NM_021625.5(TRPV4):c.2289C>T (p.Thr763=)	Brachyrachia (short spine dysplasia) [RCV001109160]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001109159]\|Inborn genetic diseases [RCV002448729]\|Metatropic dysplasia [RCV001109158]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001109157]\|Scapuloperoneal spinal muscular atrophy ... (more) [RCV001109156]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV001109155]\|not specified [RCV000728926]	benign\|likely benign	12	109786757	109786757	Human	8	name
13465057	CV462404	single nucleotide variant	NM_021625.5(TRPV4):c.1611C>T (p.Cys537=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000542599]\|Inborn genetic diseases [RCV002395419]	likely benign	12	109793574	109793574	Human	2	name
13479395	CV462409	single nucleotide variant	NM_021625.5(TRPV4):c.137C>T (p.Ser46Phe)	Charcot-Marie-Tooth disease [RCV001172897]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000550504]\|Inborn genetic diseases [RCV002384175]\|Tip-toe gait [RCV002227939]\|not provided [RCV001755851]	likely pathogenic\|likely benign\|uncertain significance\|no classifications from unflagged records	12	109814660	109814660	Human	4	name
13518911	CV486086	single nucleotide variant	NM_021625.5(TRPV4):c.1278G>A (p.Thr426=)	Charcot-Marie-Tooth disease [RCV001174130]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001086634]\|Inborn genetic diseases [RCV002377206]\|not provided [RCV000585214]	benign\|likely benign	12	109796579	109796579	Human	3	name
13518558	CV490562	single nucleotide variant	NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)	Brachyrachia (short spine dysplasia) [RCV001114791]\|Charcot-Marie-Tooth disease [RCV001173506]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001087967]\|Connective tissue disorder [RCV002279378]\|Inborn genetic diseases [RCV002448832]\|Metatropic dysplasia [RCV001114789]\|Neuronopathy, distal hereditar ... (more) y motor, autosomal dominant 8 [RCV001114790]\|Scapuloperoneal spinal muscular atrophy [RCV001109154]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV001114788]\|not provided [RCV000713881]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109786742	109786742	Human	10	name
13539011	CV503529	single nucleotide variant	NM_021625.5(TRPV4):c.1479G>A (p.Pro493=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002066581]\|Inborn genetic diseases [RCV002395611]\|not provided [RCV001698452]	likely benign	12	109794341	109794341	Human	2	name
13528713	CV503532	single nucleotide variant	NM_021625.5(TRPV4):c.1434C>T (p.Tyr478=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001435003]\|Inborn genetic diseases [RCV002395562]\|not specified [RCV000600113]	likely benign	12	109794386	109794386	Human	2	name
13541741	CV503537	single nucleotide variant	NM_021625.5(TRPV4):c.1392C>G (p.Arg464=)	Inborn genetic diseases [RCV002395583]\|not specified [RCV000616581]	likely benign	12	109794428	109794428	Human	1	name
13537615	CV503539	single nucleotide variant	NM_021625.5(TRPV4):c.1134C>T (p.Ala378=)	Charcot-Marie-Tooth disease axonal type 2C [RCV002065224]\|Inborn genetic diseases [RCV002325159]\|not provided [RCV001697938]	likely benign	12	109798632	109798632	Human	2	name
13525148	CV503842	single nucleotide variant	NM_021625.5(TRPV4):c.2514G>A (p.Pro838=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000863710]\|Inborn genetic diseases [RCV002431780]\|not provided [RCV001718924]\|not specified [RCV005418244]	benign\|likely benign	12	109783723	109783723	Human	2	name
13534534	CV503843	single nucleotide variant	NM_021625.5(TRPV4):c.2304G>A (p.Ser768=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645570]\|Inborn genetic diseases [RCV002448908]\|not specified [RCV000607353]	likely benign	12	109786742	109786742	Human	2	name
13529429	CV503852	single nucleotide variant	NM_021625.5(TRPV4):c.1482G>A (p.Leu494=)	Inborn genetic diseases [RCV002395610]\|not provided [RCV002066561]\|not specified [RCV000600306]	likely benign	12	109794338	109794338	Human	1	name
13537124	CV504105	single nucleotide variant	NM_021625.5(TRPV4):c.1107C>T (p.Asp369=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001431334]\|Inborn genetic diseases [RCV002431830]\|not provided [RCV001698475]	likely benign	12	109798659	109798659	Human	2	name
13527007	CV504116	single nucleotide variant	NM_021625.5(TRPV4):c.1104C>T (p.Asn368=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000866556]\|Inborn genetic diseases [RCV002456358]\|not provided [RCV001697978]\|not specified [RCV003330827]	likely benign	12	109798662	109798662	Human	2	name
13532611	CV504518	single nucleotide variant	NM_021625.5(TRPV4):c.2388C>T (p.Asn796=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000865067]\|Inborn genetic diseases [RCV002456386]\|not provided [RCV004704125]\|not specified [RCV000601420]	benign\|likely benign	12	109784386	109784386	Human	2	name
13532800	CV511959	deletion	NM_021625.5(TRPV4):c.673del (p.Glu225fs)	Charcot-Marie-Tooth disease axonal type 2C [RCV002531881]\|Inborn genetic diseases [RCV000624553]	uncertain significance	12	109803030	109803030	Human	2	name
13617644	CV526644	single nucleotide variant	NM_021625.5(TRPV4):c.2244C>T (p.Phe748=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645565]\|Inborn genetic diseases [RCV002424477]\|not provided [RCV004705748]	likely benign	12	109786802	109786802	Human	2	name
13617641	CV526645	single nucleotide variant	NM_021625.5(TRPV4):c.1566C>G (p.Val522=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645564]\|Inborn genetic diseases [RCV002397250]	likely benign	12	109793948	109793948	Human	2	name
13617639	CV526656	single nucleotide variant	NM_021625.5(TRPV4):c.1074C>T (p.Pro358=)	Brachyrachia (short spine dysplasia) [RCV001112512]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000645562]\|Inborn genetic diseases [RCV002422339]\|Metatropic dysplasia [RCV001112513]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001110539]\|Scapuloperoneal spinal muscular atrophy ... (more) [RCV001112511]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV001110538]	benign\|likely benign	12	109798692	109798692	Human	8	name
13617662	CV526669	single nucleotide variant	NM_021625.5(TRPV4):c.167G>A (p.Arg56His)	Charcot-Marie-Tooth disease [RCV001173260]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000645536]	uncertain significance	12	109814630	109814630	Human	2	name
13617637	CV526899	single nucleotide variant	NM_021625.5(TRPV4):c.2295C>G (p.Gly765=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645561]\|Inborn genetic diseases [RCV002458091]	likely benign	12	109786751	109786751	Human	2	name
13617653	CV527214	single nucleotide variant	NM_021625.5(TRPV4):c.2151C>A (p.Leu717=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645572]\|Inborn genetic diseases [RCV002424478]	likely benign	12	109788457	109788457	Human	2	name
13617634	CV527218	single nucleotide variant	NM_021625.5(TRPV4):c.1899C>T (p.Val633=)	Charcot-Marie-Tooth disease [RCV001173502]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000645560]\|Inborn genetic diseases [RCV002406411]\|not provided [RCV000756824]	likely benign	12	109788709	109788709	Human	3	name
13617647	CV527221	single nucleotide variant	NM_021625.5(TRPV4):c.1479G>T (p.Pro493=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645568]\|Inborn genetic diseases [RCV002388105]	likely benign	12	109794341	109794341	Human	2	name
13802403	CV565041	single nucleotide variant	NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn)	Brachyrachia (short spine dysplasia) [RCV000765043]\|Charcot-Marie-Tooth disease [RCV001173256]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000698320]\|Distal spinal muscular atrophy [RCV000856935]\|Familial digital arthropathy-brachydactyly [RCV004768581]\|Inborn genetic diseases [RCV002406606]	likely pathogenic\|uncertain significance	12	109814613	109814613	Human	14	name
13811231	CV567658	single nucleotide variant	NM_021625.5(TRPV4):c.1392C>T (p.Arg464=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000702979]\|not provided [RCV002261193]	likely benign\|uncertain significance	12	109794428	109794428	Human	1	name
13807264	CV571206	single nucleotide variant	NM_021625.5(TRPV4):c.1584C>T (p.Asn528=)	Brachyrachia (short spine dysplasia) [RCV001112239]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000701000]\|Inborn genetic diseases [RCV002397450]\|Metatropic dysplasia [RCV001112238]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001113588]\|Scapuloperoneal spinal muscular atrophy ... (more) [RCV001112237]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV001112240]\|not provided [RCV003117496]	benign\|likely benign\|uncertain significance	12	109793930	109793930	Human	8	name
13812042	CV571249	single nucleotide variant	NM_021625.5(TRPV4):c.229A>G (p.Lys77Glu)	Charcot-Marie-Tooth disease axonal type 2C [RCV000689173]	uncertain significance	12	109814568	109814568	Human	1	name
13833213	CV584442	single nucleotide variant	NM_021625.5(TRPV4):c.2247C>T (p.Pro749=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001413455]\|Inborn genetic diseases [RCV002424741]\|not provided [RCV000728401]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109786799	109786799	Human	2	name
14701725	CV640628	single nucleotide variant	NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys)	Brachyrachia (short spine dysplasia) [RCV002501085]\|Charcot-Marie-Tooth disease [RCV001173257]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000806475]\|not provided [RCV003480845]	uncertain significance	12	109814595	109814595	Human	12	name
14737552	CV640630	single nucleotide variant	NM_021625.5(TRPV4):c.145C>A (p.Pro49Thr)	Charcot-Marie-Tooth disease [RCV001173492]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000804111]\|Inborn genetic diseases [RCV002388505]\|not provided [RCV001545388]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109814652	109814652	Human	3	name
14743735	CV656103	single nucleotide variant	NM_021625.5(TRPV4):c.2439C>T (p.Thr813=)	Brachyrachia (short spine dysplasia) [RCV001109051]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001109048]\|Metatropic dysplasia [RCV001109050]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001109049]\|Scapuloperoneal spinal muscular atrophy [RCV001109047]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV001111390]\|not provided [RCV000842268]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109784335	109784335	Human	7	name
15117300	CV684277	single nucleotide variant	NM_021625.5(TRPV4):c.2307C>T (p.Asp769=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001510323]\|not provided [RCV000861103]	benign\|likely benign	12	109786739	109786739	Human	1	name
15125601	CV684278	single nucleotide variant	NM_021625.5(TRPV4):c.1884C>T (p.Tyr628=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000862612]\|not specified [RCV001664495]	benign\|likely benign	12	109792370	109792370	Human	1	name
15131745	CV684279	single nucleotide variant	NM_021625.5(TRPV4):c.1422C>T (p.Asn474=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001394813]\|Connective tissue disorder [RCV002279568]\|not provided [RCV000863673]	likely benign	12	109794398	109794398	Human	2	name
15152627	CV687865	single nucleotide variant	NM_021625.5(TRPV4):c.2092C>T (p.Leu698=)	Charcot-Marie-Tooth disease [RCV001174118]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001501290]	likely benign	12	109788516	109788516	Human	2	name
15140863	CV687866	single nucleotide variant	NM_021625.5(TRPV4):c.1827T>A (p.Ile609=)	Charcot-Marie-Tooth disease [RCV001174129]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000865254]\|not provided [RCV001811517]	likely benign	12	109792427	109792427	Human	2	name
15150575	CV687867	single nucleotide variant	NM_021625.5(TRPV4):c.1578C>T (p.Phe526=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001494687]\|not provided [RCV000867077]	likely benign	12	109793936	109793936	Human	1	name
15153925	CV687868	single nucleotide variant	NM_021625.5(TRPV4):c.1563G>A (p.Gly521=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001446506]	likely benign	12	109793951	109793951	Human	1	name
15140015	CV687869	single nucleotide variant	NM_021625.5(TRPV4):c.1551G>A (p.Thr517=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001466171]	likely benign	12	109793963	109793963	Human	1	name
15138006	CV687870	single nucleotide variant	NM_021625.5(TRPV4):c.1404C>T (p.Ala468=)	Charcot-Marie-Tooth disease [RCV001173496]\|Charcot-Marie-Tooth disease axonal type 2C [RCV002064504]	likely benign	12	109794416	109794416	Human	2	name
15140428	CV687871	single nucleotide variant	NM_021625.5(TRPV4):c.1311G>C (p.Leu437=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000865180]\|Connective tissue disorder [RCV002279571]	likely benign\|uncertain significance	12	109796546	109796546	Human	2	name
15126529	CV693138	single nucleotide variant	NM_021625.5(TRPV4):c.2397G>A (p.Pro799=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001489618]	likely benign	12	109784377	109784377	Human	1	name
15201286	CV724880	single nucleotide variant	NM_021625.5(TRPV4):c.1728C>T (p.Ala576=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000891150]	likely benign	12	109792748	109792748	Human	1	name
15142745	CV753081	single nucleotide variant	NM_021625.5(TRPV4):c.1074C>G (p.Pro358=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001496694]	likely benign	12	109798692	109798692	Human	1	name
15201248	CV768881	single nucleotide variant	NM_021625.5(TRPV4):c.2391G>A (p.Glu797=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001479607]	likely benign	12	109784383	109784383	Human	1	name
15121265	CV768882	single nucleotide variant	NM_021625.5(TRPV4):c.1683C>T (p.Ile561=)	Charcot-Marie-Tooth disease axonal type 2C [RCV000940490]	likely benign	12	109792793	109792793	Human	1	name
15198315	CV768883	single nucleotide variant	NM_021625.5(TRPV4):c.1431C>T (p.Ser477=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001468455]	likely benign	12	109794389	109794389	Human	1	name
15136408	CV784268	single nucleotide variant	NM_021625.5(TRPV4):c.1731G>T (p.Val577=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001474270]	likely benign	12	109792745	109792745	Human	1	name
21074322	CV796687	single nucleotide variant	NM_021625.5(TRPV4):c.179C>T (p.Pro60Leu)	Inborn genetic diseases [RCV002409324]\|not provided [RCV000994977]	likely benign\|uncertain significance	12	109814618	109814618	Human	1	name
26899015	CV839286	single nucleotide variant	NM_021625.5(TRPV4):c.283G>A (p.Val95Met)	Charcot-Marie-Tooth disease axonal type 2C [RCV001041048]	uncertain significance	12	109814514	109814514	Human	1	name
26898776	CV839287	single nucleotide variant	NM_021625.5(TRPV4):c.214C>T (p.Gln72Ter)	Charcot-Marie-Tooth disease axonal type 2C [RCV001039311]\|See cases [RCV002252299]\|not provided [RCV004773247]\|not specified [RCV002249641]	uncertain significance	12	109814583	109814583	Human	1	name
26898623	CV839288	single nucleotide variant	NM_021625.5(TRPV4):c.166C>T (p.Arg56Cys)	Charcot-Marie-Tooth disease axonal type 2C [RCV001038447]\|Inborn genetic diseases [RCV002391103]	uncertain significance	12	109814631	109814631	Human	2	name
28870076	CV869237	single nucleotide variant	NM_021625.5(TRPV4):c.2433G>A (p.Ser811=)	Brachyrachia (short spine dysplasia) [RCV001113393]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001113396]\|Metatropic dysplasia [RCV001113397]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001111391]\|Scapuloperoneal spinal muscular atrophy [RCV001113395]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV001113394]	conflicting interpretations of pathogenicity\|uncertain significance	12	109784341	109784341	Human	7	name
8634493	CV89713	single nucleotide variant	NM_021625.4(TRPV4):c.1146G>A (p.Lys382=)	Malignant melanoma [RCV000069810]	not provided	12	109798620	109798620	Human		name
34890567	CV905341	single nucleotide variant	NM_021625.5(TRPV4):c.2610G>A (p.Pro870=)	Charcot-Marie-Tooth disease [RCV001174127]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001422896]	likely benign	12	109783627	109783627	Human	2	name
34890572	CV905344	single nucleotide variant	NM_021625.5(TRPV4):c.2349G>C (p.Val783=)	Charcot-Marie-Tooth disease [RCV001174137]	likely benign	12	109784425	109784425	Human	1	name
34890565	CV905345	single nucleotide variant	NM_021625.5(TRPV4):c.2157C>T (p.Gly719=)	Charcot-Marie-Tooth disease [RCV001174125]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001873633]\|not provided [RCV003393863]\|not specified [RCV005236654]	likely benign\|uncertain significance	12	109788451	109788451	Human	2	name
34890067	CV905347	single nucleotide variant	NM_021625.5(TRPV4):c.1977G>A (p.Ser659=)	Charcot-Marie-Tooth disease [RCV001173513]\|Charcot-Marie-Tooth disease axonal type 2C [RCV002068087]	likely benign	12	109788631	109788631	Human	2	name
38485596	CV926457	single nucleotide variant	NM_021625.5(TRPV4):c.2013G>A (p.Leu671=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001219945]	likely benign\|uncertain significance	12	109788595	109788595	Human	1	name
38472878	CV926462	single nucleotide variant	NM_021625.5(TRPV4):c.226C>T (p.Arg76Cys)	Charcot-Marie-Tooth disease axonal type 2C [RCV001214255]\|not provided [RCV001587231]	likely benign\|uncertain significance	12	109814571	109814571	Human	1	name
38475438	CV926463	single nucleotide variant	NM_021625.5(TRPV4):c.124G>T (p.Gly42Trp)	Charcot-Marie-Tooth disease axonal type 2C [RCV001215179]	uncertain significance	12	109814673	109814673	Human	1	name
38482209	CV935913	single nucleotide variant	NM_021625.5(TRPV4):c.209A>T (p.Lys70Met)	Charcot-Marie-Tooth disease axonal type 2C [RCV001207119]	uncertain significance	12	109814588	109814588	Human	1	name
38478285	CV947780	single nucleotide variant	NM_021625.5(TRPV4):c.203G>A (p.Arg68His)	Charcot-Marie-Tooth disease axonal type 2C [RCV001233853]	uncertain significance	12	109814594	109814594	Human	1	name
38477960	CV947781	single nucleotide variant	NM_021625.5(TRPV4):c.167G>T (p.Arg56Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV001233725]	uncertain significance	12	109814630	109814630	Human	1	name
38498407	CV956745	single nucleotide variant	NM_021625.5(TRPV4):c.227G>T (p.Arg76Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV001243805]\|Inborn genetic diseases [RCV004034763]	uncertain significance	12	109814570	109814570	Human	2	name
40904195	CV976361	single nucleotide variant	NM_021625.5(TRPV4):c.2400C>G (p.Gly800=)	not provided [RCV001269987]	likely pathogenic	12	109784374	109784374	Human		name
41405046	CV981769	single nucleotide variant	NM_021625.5(TRPV4):c.1002C>T (p.Asn334=)	Charcot-Marie-Tooth disease axonal type 2C [RCV001501790]\|not provided [RCV001812352]	likely benign	12	109798764	109798764	Human	1	name
126760835	CV994893	single nucleotide variant	NM_021625.5(TRPV4):c.203G>T (p.Arg68Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV001299916]	uncertain significance	12	109814594	109814594	Human	1	name
126739828	CV1010105	single nucleotide variant	NM_021625.5(TRPV4):c.749G>A (p.Cys250Tyr)	Charcot-Marie-Tooth disease axonal type 2C [RCV001325111]	uncertain significance	12	109800722	109800722	Human	1	name
126731254	CV1030641	single nucleotide variant	NM_021625.5(TRPV4):c.838G>A (p.Gly280Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV001349395]	pathogenic\|uncertain significance	12	109800633	109800633	Human	1	name
126768654	CV1030642	single nucleotide variant	NM_021625.5(TRPV4):c.752A>G (p.Lys251Arg)	Charcot-Marie-Tooth disease axonal type 2C [RCV001343482]\|not specified [RCV005419095]	uncertain significance	12	109800719	109800719	Human	1	name
126749796	CV1030643	single nucleotide variant	NM_021625.5(TRPV4):c.604C>G (p.Leu202Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV001352118]	uncertain significance	12	109803099	109803099	Human	1	name
126911097	CV1047664	single nucleotide variant	NM_021625.5(TRPV4):c.985G>A (p.Val329Met)	Charcot-Marie-Tooth disease axonal type 2C [RCV001369070]	uncertain significance	12	109798781	109798781	Human	1	name
126923161	CV1047665	single nucleotide variant	NM_021625.5(TRPV4):c.384A>G (p.Ile128Met)	Charcot-Marie-Tooth disease axonal type 2C [RCV001365527]	uncertain significance	12	109814413	109814413	Human	1	name
126913572	CV1047666	single nucleotide variant	NM_021625.5(TRPV4):c.379A>T (p.Ile127Phe)	Charcot-Marie-Tooth disease axonal type 2C [RCV001359226]\|Inborn genetic diseases [RCV002357212]	uncertain significance	12	109814418	109814418	Human	2	name
127258524	CV1062574	single nucleotide variant	NM_021625.5(TRPV4):c.709C>G (p.Arg237Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV001386963]	pathogenic	12	109802994	109802994	Human	1	name
127288195	CV1152483	single nucleotide variant	NM_021625.5(TRPV4):c.811C>T (p.Arg271Cys)	Charcot-Marie-Tooth disease axonal type 2C [RCV003505175]\|not provided [RCV001508338]	uncertain significance	12	109800660	109800660	Human	1	name
150423025	CV1180929	single nucleotide variant	NM_021625.5(TRPV4):c.796G>A (p.Ala266Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV005057507]\|not provided [RCV001553452]	uncertain significance	12	109800675	109800675	Human	1	name
150456508	CV1214426	single nucleotide variant	NM_021625.5(TRPV4):c.340C>T (p.Arg114Cys)	Charcot-Marie-Tooth disease axonal type 2C [RCV001866253]\|not provided [RCV001597526]	uncertain significance	12	109814457	109814457	Human	1	name
150479645	CV1282345	insertion	NM_021625.5(TRPV4):c.853+205_853+206insGA	not provided [RCV001714500]	benign	12	109800412	109800413	Human		name
150528633	CV1288417	single nucleotide variant	NM_021625.5(TRPV4):c.599T>C (p.Leu200Pro)	not provided [RCV001726885]	uncertain significance	12	109803104	109803104	Human		name
150534927	CV1306847	single nucleotide variant	NM_021625.5(TRPV4):c.722C>T (p.Ala241Val)	not provided [RCV001758901]	uncertain significance	12	109800749	109800749	Human		name
150552717	CV1307187	single nucleotide variant	NM_021625.5(TRPV4):c.328T>C (p.Tyr110His)	not provided [RCV001768299]	uncertain significance	12	109814469	109814469	Human		name
150557268	CV1310634	single nucleotide variant	NM_021625.5(TRPV4):c.617G>T (p.Arg206Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV001885128]\|not provided [RCV001776368]	uncertain significance	12	109803086	109803086	Human	1	name
150557310	CV1310691	single nucleotide variant	NM_021625.5(TRPV4):c.799C>G (p.Gln267Glu)	Charcot-Marie-Tooth disease axonal type 2C [RCV001868804]\|not provided [RCV001776425]	uncertain significance	12	109800672	109800672	Human	1	name
150557312	CV1310693	single nucleotide variant	NM_021625.5(TRPV4):c.826A>C (p.Lys276Gln)	not provided [RCV001776427]	uncertain significance	12	109800645	109800645	Human		name
150547570	CV1316088	duplication	NM_021625.5(TRPV4):c.2554dup (p.Arg852fs)	Mild short stature [RCV001785364]	uncertain significance	12	109783682	109783683	Human	1	name
10449995	CV132006	single nucleotide variant	NM_021625.5(TRPV4):c.597G>C (p.Leu199Phe)	Skeletal dysplasia [RCV000202441]	pathogenic\|not provided	12	109803106	109803106	Human	2	name
10450014	CV132007	single nucleotide variant	NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)	Brachyrachia (short spine dysplasia) [RCV000315964]\|Charcot-Marie-Tooth disease [RCV000789586]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000988905]\|Connective tissue disorder [RCV002277151]\|Metatropic dysplasia [RCV000355529]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV00026 ... (more) 4502]\|Scapuloperoneal spinal muscular atrophy [RCV000361514]\|Skeletal dysplasia [RCV000202491]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000303216]\|TRPV4-related disorder [RCV004549536]\|not provided [RCV000513890]\|not specified [RCV000243440]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance\|not provided	12	109803054	109803054	Human	12	name , alternate_id
10450064	CV132008	single nucleotide variant	NM_021625.5(TRPV4):c.652G>A (p.Glu218Lys)	Charcot-Marie-Tooth disease [RCV000790321]\|not provided [RCV000202548]	benign\|uncertain significance\|not provided	12	109803051	109803051	Human	1	name
10450018	CV132009	single nucleotide variant	NM_021625.5(TRPV4):c.717G>C (p.Gln239His)	Skeletal dysplasia [RCV000202497]	pathogenic\|not provided	12	109800754	109800754	Human	2	name
10449998	CV132010	single nucleotide variant	NM_021625.5(TRPV4):c.819C>G (p.Phe273Leu)	Familial digital arthropathy-brachydactyly [RCV000202455]	pathogenic	12	109800652	109800652	Human	1	name
10450005	CV132012	single nucleotide variant	NM_021625.5(TRPV4):c.883A>G (p.Thr295Ala)	Skeletal dysplasia [RCV000202471]	pathogenic\|not provided	12	109798883	109798883	Human	2	name
10449996	CV132013	single nucleotide variant	NM_021625.5(TRPV4):c.992T>C (p.Ile331Thr)	Skeletal dysplasia [RCV000202451]	pathogenic\|likely pathogenic\|not provided	12	109798774	109798774	Human	2	name
151757887	CV1340448	single nucleotide variant	NM_021625.5(TRPV4):c.592G>A (p.Ala198Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV001913640]	uncertain significance	12	109803111	109803111	Human	1	name
151760080	CV1343163	single nucleotide variant	NM_021625.5(TRPV4):c.997G>T (p.Asp333Tyr)	Charcot-Marie-Tooth disease axonal type 2C [RCV002024258]	uncertain significance	12	109798769	109798769	Human	1	name
151874746	CV1369524	single nucleotide variant	NM_021625.5(TRPV4):c.947G>T (p.Arg316Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV002036118]	likely pathogenic	12	109798819	109798819	Human	1	name
151758808	CV1375547	single nucleotide variant	NM_021625.5(TRPV4):c.980C>T (p.Ala327Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV001969939]	uncertain significance	12	109798786	109798786	Human	1	name
151881383	CV1384881	single nucleotide variant	NM_021625.5(TRPV4):c.439A>T (p.Lys147Ter)	Charcot-Marie-Tooth disease axonal type 2C [RCV001982600]	uncertain significance	12	109808416	109808416	Human	1	name
151819898	CV1385917	single nucleotide variant	NM_021625.5(TRPV4):c.757T>C (p.Tyr253His)	Charcot-Marie-Tooth disease axonal type 2C [RCV002013272]	uncertain significance	12	109800714	109800714	Human	1	name
151786865	CV1395679	single nucleotide variant	NM_021625.5(TRPV4):c.508C>T (p.Leu170Phe)	Charcot-Marie-Tooth disease axonal type 2C [RCV002010278]	uncertain significance	12	109808347	109808347	Human	1	name
151857797	CV1402086	single nucleotide variant	NM_021625.5(TRPV4):c.548A>T (p.Glu183Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV002017394]	uncertain significance	12	109808307	109808307	Human	1	name
151858132	CV1402140	single nucleotide variant	NM_021625.5(TRPV4):c.427C>T (p.Pro143Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV002017430]	uncertain significance	12	109808428	109808428	Human	1	name
151740590	CV1402196	single nucleotide variant	NM_021625.5(TRPV4):c.689C>T (p.Pro230Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV001911891]	uncertain significance	12	109803014	109803014	Human	1	name
151769545	CV1409725	single nucleotide variant	NM_021625.5(TRPV4):c.511C>T (p.Pro171Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV001896195]	uncertain significance	12	109808344	109808344	Human	1	name
151806005	CV1427298	single nucleotide variant	NM_021625.5(TRPV4):c.373A>G (p.Lys125Glu)	Charcot-Marie-Tooth disease axonal type 2C [RCV001899502]\|not provided [RCV004779163]	uncertain significance	12	109814424	109814424	Human	1	name
151785648	CV1435376	single nucleotide variant	NM_021625.5(TRPV4):c.536G>A (p.Arg179His)	Charcot-Marie-Tooth disease axonal type 2C [RCV001916291]	uncertain significance	12	109808319	109808319	Human	1	name
151731955	CV1436417	single nucleotide variant	NM_021625.5(TRPV4):c.313G>T (p.Asp105Tyr)	Charcot-Marie-Tooth disease axonal type 2C [RCV002004873]	uncertain significance	12	109814484	109814484	Human	1	name
151757212	CV1459730	single nucleotide variant	NM_021625.5(TRPV4):c.695G>C (p.Arg232Pro)	Charcot-Marie-Tooth disease axonal type 2C [RCV001986871]	likely pathogenic	12	109803008	109803008	Human	1	name
151711818	CV1474242	single nucleotide variant	NM_021625.5(TRPV4):c.719C>T (p.Thr240Ile)	Charcot-Marie-Tooth disease axonal type 2C [RCV001908167]	uncertain significance	12	109800752	109800752	Human	1	name
151877588	CV1481043	deletion	NM_021625.5(TRPV4):c.2271del (p.Ser758fs)	Charcot-Marie-Tooth disease axonal type 2C [RCV001982101]	uncertain significance	12	109786775	109786775	Human	1	name
9586785	CV165507	single nucleotide variant	NM_021625.5(TRPV4):c.549G>C (p.Glu183Asp)	Charcot-Marie-Tooth disease [RCV000789588]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000988906]\|not provided [RCV000143824]	benign\|likely benign\|uncertain significance	12	109808306	109808306	Human	2	name
152034029	CV1669086	single nucleotide variant	NM_021625.5(TRPV4):c.478C>T (p.Arg160Trp)	Charcot-Marie-Tooth disease axonal type 2C [RCV003101261]\|not provided [RCV002223430]	uncertain significance	12	109808377	109808377	Human	1	name
152032048	CV1671077	single nucleotide variant	NM_021625.5(TRPV4):c.710G>A (p.Arg237Gln)	Charcot-Marie-Tooth disease axonal type 2C [RCV002226614]\|Tip-toe gait [RCV003319508]	likely pathogenic\|no classifications from unflagged records	12	109802993	109802993	Human	2	name
153000455	CV1683073	single nucleotide variant	NM_021625.5(TRPV4):c.925C>T (p.His309Tyr)	Charcot-Marie-Tooth disease axonal type 2C [RCV003094121]\|See cases [RCV002253083]	uncertain significance	12	109798841	109798841	Human	1	name
155266634	CV1699202	single nucleotide variant	NM_021625.5(TRPV4):c.452G>A (p.Arg151Gln)	Charcot-Marie-Tooth disease axonal type 2C [RCV003096349]\|not provided [RCV002282997]	uncertain significance	12	109808403	109808403	Human	1	name
155266705	CV1699267	single nucleotide variant	NM_021625.5(TRPV4):c.980C>G (p.Ala327Gly)	not provided [RCV002283062]	uncertain significance	12	109798786	109798786	Human		name
155704191	CV1787550	single nucleotide variant	NM_021625.5(TRPV4):c.408A>C (p.Lys136Asn)	Inborn genetic diseases [RCV002323177]	uncertain significance	12	109808447	109808447	Human	1	name
155705161	CV1811120	single nucleotide variant	NM_021625.5(TRPV4):c.608G>A (p.Ser203Asn)	Inborn genetic diseases [RCV002360047]	uncertain significance	12	109803095	109803095	Human	1	name
155728485	CV1812973	single nucleotide variant	NM_021625.5(TRPV4):c.728A>G (p.His243Arg)	Charcot-Marie-Tooth disease axonal type 2C [RCV005097093]\|Inborn genetic diseases [RCV002382667]	uncertain significance	12	109800743	109800743	Human	2	name
155697002	CV1816220	single nucleotide variant	NM_021625.5(TRPV4):c.751A>C (p.Lys251Gln)	Charcot-Marie-Tooth disease axonal type 2C [RCV003611596]\|Inborn genetic diseases [RCV002393813]\|not provided [RCV003156382]	uncertain significance	12	109800720	109800720	Human	2	name
155728050	CV1819008	single nucleotide variant	NM_021625.5(TRPV4):c.706T>C (p.Tyr236His)	Charcot-Marie-Tooth disease axonal type 2C [RCV003098462]\|Inborn genetic diseases [RCV002365094]	uncertain significance	12	109802997	109802997	Human	2	name
155669852	CV1832229	deletion	NM_021625.5(TRPV4):c.1314del (p.Tyr439fs)	Charcot-Marie-Tooth disease axonal type 2C [RCV003505251]\|Inborn genetic diseases [RCV002385526]	uncertain significance	12	109796543	109796543	Human	2	name
155677181	CV1843793	duplication	NM_021625.5(TRPV4):c.2057dup (p.Ser687fs)	Inborn genetic diseases [RCV002421897]	uncertain significance	12	109788550	109788551	Human	1	name
155797751	CV1860466	single nucleotide variant	NM_021625.5(TRPV4):c.451C>T (p.Arg151Trp)	Charcot-Marie-Tooth disease axonal type 2C [RCV003111569]\|not provided [RCV002467108]	uncertain significance	12	109808404	109808404	Human	1	name
156370460	CV1888037	single nucleotide variant	NM_021625.5(TRPV4):c.621C>G (p.Asn207Lys)	Charcot-Marie-Tooth disease axonal type 2C [RCV003092379]	uncertain significance	12	109803082	109803082	Human	1	name
156374363	CV1963289	single nucleotide variant	NM_021625.5(TRPV4):c.962G>T (p.Gly321Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV002582674]	uncertain significance	12	109798804	109798804	Human	1	name
8596639	CV20034	single nucleotide variant	NM_021625.5(TRPV4):c.998A>G (p.Asp333Gly)	Skeletal dysplasia [RCV000202481]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000005284]	pathogenic\|not provided	12	109798768	109798768	Human	3	name
156364100	CV2003435	deletion	NM_021625.5(TRPV4):c.1431del (p.Tyr478fs)	Charcot-Marie-Tooth disease axonal type 2C [RCV002676440]	uncertain significance	12	109794389	109794389	Human	1	name
8596641	CV20036	single nucleotide variant	NM_021625.5(TRPV4):c.991A>T (p.Ile331Phe)	Metatropic dysplasia [RCV000005286]\|Skeletal dysplasia [RCV000202518]	pathogenic\|not provided	12	109798775	109798775	Human	3	name
8596643	CV20038	single nucleotide variant	NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)	Charcot-Marie-Tooth disease axonal type 2C [RCV000005291]\|Inborn genetic diseases [RCV002371762]\|Neuromuscular disease [RCV000202514]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000005289]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV005409595]\|Neuronopathy, di ... (more) stal hereditary motor, autosomal dominant [RCV000789585]\|Scapuloperoneal spinal muscular atrophy [RCV000005290]\|TRPV4-Associated Disorders [RCV003335013]\|TRPV4-related disorder [RCV004547459]\|not provided [RCV000236487]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	12	109798823	109798823	Human	6	name , alternate_id
8596644	CV20039	single nucleotide variant	NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	Brachyrachia (short spine dysplasia) [RCV000763296]\|Charcot-Marie-Tooth disease [RCV000192243]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000005293]\|Inborn genetic diseases [RCV000623703]\|Neuromuscular disease [RCV000202467]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV0000052 ... (more) 92]\|TRPV4-related bone disorder [RCV003320352]\|not provided [RCV000235740]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	12	109800665	109800665	Human	14	name
8596645	CV20040	single nucleotide variant	NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)	Charcot-Marie-Tooth disease [RCV000192245]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000005294]\|Inborn genetic diseases [RCV002371763]\|Neuromuscular disease [RCV000202561]\|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789587]\|Scapuloperoneal spinal muscular atrophy [RCV000005 ... (more) 295]\|TRPV4-related disorder [RCV001796956]\|not provided [RCV000236285]	pathogenic\|uncertain significance\|not provided	12	109798820	109798820	Human	6	name , alternate_id
8596646	CV20041	single nucleotide variant	NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)	Charcot-Marie-Tooth disease axonal type 2C [RCV000005296]\|Distal spinal muscular atrophy [RCV000856933]\|Hereditary motor neuron disease [RCV001027476]\|Inborn genetic diseases [RCV002415400]\|Neuromuscular disease [RCV000202537]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000190885 ... (more) ]\|Scapuloperoneal spinal muscular atrophy [RCV000033215]\|not provided [RCV000517563]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	12	109800666	109800666	Human	7	name
156084684	CV2012154	deletion	NM_021625.5(TRPV4):c.1467del (p.Tyr490fs)	Charcot-Marie-Tooth disease axonal type 2C [RCV002706105]	uncertain significance	12	109794353	109794353	Human	1	name
156218313	CV2015363	deletion	NM_021625.5(TRPV4):c.2595del (p.Thr866fs)	Charcot-Marie-Tooth disease axonal type 2C [RCV002700903]	uncertain significance	12	109783642	109783642	Human	1	name
155935829	CV2045745	single nucleotide variant	NM_021625.5(TRPV4):c.872T>C (p.Leu291Pro)	Charcot-Marie-Tooth disease axonal type 2C [RCV002751448]\|not provided [RCV005051982]	uncertain significance	12	109798894	109798894	Human	1	name
156098198	CV2050976	single nucleotide variant	NM_021625.5(TRPV4):c.662G>A (p.Gly221Asp)	Charcot-Marie-Tooth disease axonal type 2C [RCV002824455]	uncertain significance	12	109803041	109803041	Human	1	name
156265285	CV2059575	single nucleotide variant	NM_021625.5(TRPV4):c.512C>T (p.Pro171Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV002806469]	uncertain significance	12	109808343	109808343	Human	1	name
10408845	CV212984	single nucleotide variant	NM_021625.5(TRPV4):c.769C>G (p.Leu257Val)	Brachyrachia (short spine dysplasia) [RCV000281019]\|Charcot-Marie-Tooth disease [RCV001173508]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000200197]\|Inborn genetic diseases [RCV002399743]\|Metatropic dysplasia [RCV000402631]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV00033602 ... (more) 2]\|Scapuloperoneal spinal muscular atrophy [RCV000339943]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000375941]\|not provided [RCV001529428]\|not specified [RCV000430273]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	12	109800702	109800702	Human	9	name
156199084	CV2153649	single nucleotide variant	NM_021625.5(TRPV4):c.928A>G (p.Lys310Glu)	Charcot-Marie-Tooth disease axonal type 2C [RCV003006260]	uncertain significance	12	109798838	109798838	Human	1	name
156354405	CV2154108	single nucleotide variant	NM_021625.5(TRPV4):c.313G>A (p.Asp105Asn)	Charcot-Marie-Tooth disease axonal type 2C [RCV003031120]	uncertain significance	12	109814484	109814484	Human	1	name
156072356	CV2172696	single nucleotide variant	NM_021625.5(TRPV4):c.500A>T (p.Asp167Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV003053756]\|not provided [RCV004790318]	uncertain significance	12	109808355	109808355	Human	1	name
156009219	CV2175807	single nucleotide variant	NM_021625.5(TRPV4):c.648C>G (p.Ile216Met)	Charcot-Marie-Tooth disease axonal type 2C [RCV003035149]	uncertain significance	12	109803055	109803055	Human	1	name
10767670	CV222202	single nucleotide variant	NM_021625.5(TRPV4):c.593C>G (p.Ala198Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV000205102]\|Inborn genetic diseases [RCV002354581]\|not provided [RCV003329260]	uncertain significance	12	109803110	109803110	Human	2	name
11090111	CV231825	single nucleotide variant	NM_021625.5(TRPV4):c.704A>G (p.Tyr235Cys)	Charcot-Marie-Tooth disease axonal type 2C [RCV001203030]\|Inborn genetic diseases [RCV002372235]\|not provided [RCV000215648]	uncertain significance	12	109802999	109802999	Human	2	name
243064228	CV2411275	single nucleotide variant	NM_021625.5(TRPV4):c.469A>G (p.Ile157Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV005060974]\|not provided [RCV003142847]	uncertain significance	12	109808386	109808386	Human	1	name
243064231	CV2411278	single nucleotide variant	NM_021625.5(TRPV4):c.317C>A (p.Ser106Ter)	Charcot-Marie-Tooth disease axonal type 2C [RCV005099354]\|not provided [RCV003142850]	uncertain significance	12	109814480	109814480	Human	1	name
11348126	CV241228	deletion	NM_021625.5(TRPV4):c.1656del (p.Tyr553fs)	Charcot-Marie-Tooth disease [RCV001174138]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000234485]\|Inborn genetic diseases [RCV002401904]\|not provided [RCV000860565]\|not specified [RCV000235727]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109793529	109793529	Human	3	name
11523446	CV244724	single nucleotide variant	NM_021625.5(TRPV4):c.956C>T (p.Ser319Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV000541580]\|Inborn genetic diseases [RCV002379042]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV004576931]\|TRPV4-related disorder [RCV004737389]\|not provided [RCV000235920]\|not specified [RCV003479 ... (more) 077]	likely benign\|uncertain significance	12	109798810	109798810	Human	3	name , alternate_id
11523038	CV244725	single nucleotide variant	NM_021625.5(TRPV4):c.914C>T (p.Thr305Met)	Charcot-Marie-Tooth disease axonal type 2C [RCV005090189]\|not provided [RCV000235235]	uncertain significance	12	109798852	109798852	Human	1	name
11523959	CV244727	single nucleotide variant	NM_021625.5(TRPV4):c.830A>G (p.Asp277Gly)	not provided [RCV000236818]	uncertain significance	12	109800641	109800641	Human		name
11524025	CV244728	single nucleotide variant	NM_021625.5(TRPV4):c.695G>A (p.Arg232His)	Charcot-Marie-Tooth disease axonal type 2C [RCV002519834]\|not provided [RCV000236974]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	12	109803008	109803008	Human	1	name
11523304	CV244729	single nucleotide variant	NM_021625.5(TRPV4):c.479G>A (p.Arg160Gln)	Charcot-Marie-Tooth disease axonal type 2C [RCV000537457]\|not provided [RCV000235717]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109808376	109808376	Human	1	name
11524067	CV244730	single nucleotide variant	NM_021625.5(TRPV4):c.402C>A (p.Ser134Arg)	Brachyrachia (short spine dysplasia) [RCV000323886]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001085188]\|Inborn genetic diseases [RCV002356326]\|Metatropic dysplasia [RCV000336637]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000376123]\|Scapuloperoneal spinal muscular atrophy ... (more) [RCV000286168]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000401941]\|TRPV4-related disorder [RCV004547619]\|not provided [RCV000237054]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109808453	109808453	Human	8	name , alternate_id
401865430	CV2748712	single nucleotide variant	NM_021625.5(TRPV4):c.688C>T (p.Pro230Ser)	Metatropic dysplasia [RCV003330372]	likely pathogenic	12	109803015	109803015	Human	1	name
401912268	CV2796102	deletion	NM_021625.5(TRPV4):c.1790del (p.Lys597fs)	TRPV4-related disorder [RCV004548663]	uncertain significance	12	109792686	109792686	Human		name , trait , alternate_id
401941857	CV2839835	single nucleotide variant	NM_021625.5(TRPV4):c.745C>G (p.Arg249Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV003455904]	uncertain significance	12	109800726	109800726	Human	1	name
404995073	CV2851315	single nucleotide variant	NM_021625.5(TRPV4):c.847T>C (p.Tyr283His)	not provided [RCV003491698]	uncertain significance	12	109800624	109800624	Human		name
402479753	CV2882435	single nucleotide variant	NM_021625.5(TRPV4):c.524C>A (p.Thr175Asn)	Charcot-Marie-Tooth disease axonal type 2C [RCV003506330]	uncertain significance	12	109808331	109808331	Human	1	name
402480450	CV2893816	single nucleotide variant	NM_021625.5(TRPV4):c.923C>T (p.Pro308Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV003506440]	uncertain significance	12	109798843	109798843	Human	1	name
402481674	CV2901400	single nucleotide variant	NM_021625.5(TRPV4):c.371G>A (p.Arg124Lys)	Charcot-Marie-Tooth disease axonal type 2C [RCV003506564]	uncertain significance	12	109814426	109814426	Human	1	name
402472366	CV2914343	single nucleotide variant	NM_021625.5(TRPV4):c.781G>A (p.Gly261Arg)	Charcot-Marie-Tooth disease axonal type 2C [RCV003504885]\|not provided [RCV004798048]	uncertain significance	12	109800690	109800690	Human	1	name
402471834	CV2915755	single nucleotide variant	NM_021625.5(TRPV4):c.421C>G (p.Gln141Glu)	Charcot-Marie-Tooth disease axonal type 2C [RCV003504767]	uncertain significance	12	109808434	109808434	Human	1	name
405076609	CV2973754	single nucleotide variant	NM_021625.5(TRPV4):c.634G>A (p.Val212Met)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612542]	uncertain significance	12	109803069	109803069	Human	1	name
405080179	CV2982405	single nucleotide variant	NM_021625.5(TRPV4):c.413C>A (p.Pro138His)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612844]	uncertain significance	12	109808442	109808442	Human	1	name
405087373	CV3017825	duplication	NM_021625.5(TRPV4):c.1527dup (p.Arg510fs)	Charcot-Marie-Tooth disease axonal type 2C [RCV003613447]	uncertain significance	12	109793986	109793987	Human	1	name
405058470	CV3031284	single nucleotide variant	NM_021625.5(TRPV4):c.446T>A (p.Phe149Tyr)	Charcot-Marie-Tooth disease axonal type 2C [RCV003611145]	uncertain significance	12	109808409	109808409	Human	1	name
405071617	CV3069607	single nucleotide variant	NM_021625.5(TRPV4):c.718A>T (p.Thr240Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612198]	uncertain significance	12	109800753	109800753	Human	1	name
405208642	CV3117200	single nucleotide variant	NM_021625.5(TRPV4):c.733G>T (p.Ala245Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV003822987]	uncertain significance	12	109800738	109800738	Human	1	name
11600228	CV315989	single nucleotide variant	NM_021625.5(TRPV4):c.760G>A (p.Val254Met)	Brachyrachia (short spine dysplasia) [RCV000311831]\|Charcot-Marie-Tooth disease [RCV001173497]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000457114]\|Inborn genetic diseases [RCV002392847]\|Metatropic dysplasia [RCV000315579]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV00039679 ... (more) 9]\|Scapuloperoneal spinal muscular atrophy [RCV000351612]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000271961]\|TRPV4-related disorder [RCV004549665]\|not provided [RCV005243189]\|not specified [RCV000605313]	benign\|likely benign	12	109800711	109800711	Human	9	name , alternate_id
405711151	CV3225798	single nucleotide variant	NM_021625.5(TRPV4):c.476C>A (p.Ser159Tyr)	Charcot-Marie-Tooth disease axonal type 2C [RCV003990856]	uncertain significance	12	109808379	109808379	Human	1	name
11614266	CV329285	single nucleotide variant	NM_021625.5(TRPV4):c.622G>A (p.Asp208Asn)	Brachyrachia (short spine dysplasia) [RCV000327488]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001072050]\|Metatropic dysplasia [RCV000385333]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000275817]\|Scapuloperoneal spinal muscular atrophy [RCV000293340]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV000333199]	uncertain significance	12	109803081	109803081	Human	7	name
11617450	CV330489	single nucleotide variant	NM_021625.5(TRPV4):c.650C>T (p.Ala217Val)	Brachyrachia (short spine dysplasia) [RCV000348635]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001052550]\|Metatropic dysplasia [RCV000394932]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000304424]\|Scapuloperoneal spinal muscular atrophy [RCV000404003]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV000344222]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109803053	109803053	Human	7	name
11613937	CV330490	single nucleotide variant	NM_021625.5(TRPV4):c.427C>A (p.Pro143Thr)	Brachyrachia (short spine dysplasia) [RCV000325805]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000274367]\|Metatropic dysplasia [RCV000331875]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000273091]\|Scapuloperoneal spinal muscular atrophy [RCV000365509]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV000382794]	likely benign\|uncertain significance	12	109808428	109808428	Human	7	name
8596651	CV33473	single nucleotide variant	NM_021625.5(TRPV4):c.832G>A (p.Glu278Lys)	Charcot-Marie-Tooth disease axonal type 2C [RCV000805229]\|Skeletal dysplasia [RCV000202563]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000005302]	pathogenic\|likely pathogenic\|not provided	12	109800639	109800639	Human	4	name
8596653	CV33476	single nucleotide variant	NM_021625.5(TRPV4):c.547G>A (p.Glu183Lys)	Charcot-Marie-Tooth disease axonal type 2C [RCV001851965]\|Skeletal dysplasia [RCV000202438]\|Spondyloepimetaphyseal dysplasia, Maroteaux type [RCV000005306]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	12	109808308	109808308	Human	4	name
405869536	CV3396732	single nucleotide variant	NM_021625.5(TRPV4):c.856G>A (p.Glu286Lys)	Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV004566605]	likely pathogenic	12	109798910	109798910	Human	1	name
407426242	CV3409778	single nucleotide variant	NM_021625.5(TRPV4):c.766C>T (p.Leu256Phe)	not provided [RCV004585710]	uncertain significance	12	109800705	109800705	Human		name
597632535	CV3552859	single nucleotide variant	NM_021625.5(TRPV4):c.508C>A (p.Leu170Ile)	not provided [RCV004823687]	uncertain significance	12	109808347	109808347	Human		name
12845607	CV372541	single nucleotide variant	NM_021625.5(TRPV4):c.898A>G (p.Ile300Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV000860579]\|TRPV4-related disorder [RCV004551464]\|not provided [RCV001720256]	likely benign\|uncertain significance	12	109798868	109798868	Human	1	name , alternate_id
597940850	CV3757293	single nucleotide variant	NM_021625.5(TRPV4):c.880T>G (p.Cys294Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV005077479]	uncertain significance	12	109798886	109798886	Human	1	name
597838292	CV3758203	single nucleotide variant	NM_021625.5(TRPV4):c.592G>T (p.Ala198Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV005086037]	uncertain significance	12	109803111	109803111	Human	1	name
597917905	CV3767935	single nucleotide variant	NM_021625.5(TRPV4):c.901G>T (p.Val301Phe)	Charcot-Marie-Tooth disease axonal type 2C [RCV005114736]	uncertain significance	12	109798865	109798865	Human	1	name
597917910	CV3767936	single nucleotide variant	NM_021625.5(TRPV4):c.797C>G (p.Ala266Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV005114737]	uncertain significance	12	109800674	109800674	Human	1	name
597917922	CV3767938	single nucleotide variant	NM_021625.5(TRPV4):c.515T>A (p.Phe172Tyr)	Charcot-Marie-Tooth disease axonal type 2C [RCV005114739]	uncertain significance	12	109808340	109808340	Human	1	name
597917928	CV3767939	single nucleotide variant	NM_021625.5(TRPV4):c.422A>G (p.Gln141Arg)	Charcot-Marie-Tooth disease axonal type 2C [RCV005114740]	uncertain significance	12	109808433	109808433	Human	1	name
597870306	CV3799784	single nucleotide variant	NM_021625.5(TRPV4):c.404C>T (p.Pro135Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV005148198]	uncertain significance	12	109808451	109808451	Human	1	name
597957185	CV3800413	single nucleotide variant	NM_021625.5(TRPV4):c.797C>A (p.Ala266Asp)	Charcot-Marie-Tooth disease axonal type 2C [RCV005137505]	uncertain significance	12	109800674	109800674	Human	1	name
597943712	CV3812397	single nucleotide variant	NM_021625.5(TRPV4):c.913A>C (p.Thr305Pro)	Charcot-Marie-Tooth disease axonal type 2C [RCV005159607]	uncertain significance	12	109798853	109798853	Human	1	name
597928060	CV3836978	single nucleotide variant	NM_021625.5(TRPV4):c.736A>G (p.Ile246Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV005185329]	uncertain significance	12	109800735	109800735	Human	1	name
597950480	CV3846931	single nucleotide variant	NM_021625.5(TRPV4):c.942G>A (p.Met314Ile)	Charcot-Marie-Tooth disease axonal type 2C [RCV005190102]	uncertain significance	12	109798824	109798824	Human	1	name
597959197	CV3848629	single nucleotide variant	NM_021625.5(TRPV4):c.799C>T (p.Gln267Ter)	Charcot-Marie-Tooth disease axonal type 2C [RCV005192330]	uncertain significance	12	109800672	109800672	Human	1	name
597930801	CV3862378	single nucleotide variant	NM_021625.5(TRPV4):c.772G>A (p.Val258Met)	Charcot-Marie-Tooth disease axonal type 2C [RCV005206623]	uncertain significance	12	109800699	109800699	Human	1	name
598200299	CV3892642	single nucleotide variant	NM_021625.5(TRPV4):c.989C>T (p.Ala330Val)	not provided [RCV005254475]	uncertain significance	12	109798777	109798777	Human		name
598237102	CV3932298	single nucleotide variant	NM_021625.5(TRPV4):c.343C>T (p.His115Tyr)	Inborn genetic diseases [RCV005296179]	uncertain significance	12	109814454	109814454	Human	1	name
8602232	CV39428	single nucleotide variant	NM_021625.5(TRPV4):c.590A>G (p.Lys197Arg)	Charcot-Marie-Tooth disease axonal type 2C [RCV001315769]\|Metatropic dysplasia [RCV000023428]\|Skeletal dysplasia [RCV000202524]	pathogenic\|uncertain significance\|not provided	12	109803113	109803113	Human	4	name
8602233	CV39429	single nucleotide variant	NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)	Charcot-Marie-Tooth disease [RCV001172888]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000023429]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000190886]\|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000789594]\|Skeletal dysplasia [RCV000202445]\|Spondylometaphyse ... (more) al dysplasia, Kozlowski type [RCV001542600]\|not provided [RCV000236017]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	12	109803009	109803009	Human	7	name
8602234	CV39430	single nucleotide variant	NM_021625.5(TRPV4):c.947G>A (p.Arg316His)	Charcot-Marie-Tooth disease [RCV000856932]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000023430]\|Clubfoot [RCV000415397]\|Neuromuscular disease [RCV000202476]\|not provided [RCV000497541]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	12	109798819	109798819	Human	7	name
8602237	CV39433	single nucleotide variant	NM_021625.5(TRPV4):c.826A>G (p.Lys276Glu)	Metatropic dysplasia [RCV000023433]\|Skeletal dysplasia [RCV000202517]\|not provided [RCV000413499]	pathogenic	12	109800645	109800645	Human	3	name
12888897	CV398949	single nucleotide variant	NM_021625.5(TRPV4):c.847T>A (p.Tyr283Asn)	Charcot-Marie-Tooth disease [RCV001173246]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000471793]\|not provided [RCV001531170]\|not specified [RCV000516976]	uncertain significance	12	109800624	109800624	Human	2	name
12884757	CV398951	single nucleotide variant	NM_021625.5(TRPV4):c.649G>A (p.Ala217Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV000464061]	uncertain significance	12	109803054	109803054	Human	1	name
598188735	CV4008622	single nucleotide variant	NM_021625.5(TRPV4):c.658A>G (p.Thr220Ala)	Brachyrachia (short spine dysplasia) [RCV005396121]	uncertain significance	12	109803045	109803045	Human	11	name
12900302	CV408511	deletion	NM_021625.5(TRPV4):c.2584del (p.Arg862fs)	Charcot-Marie-Tooth disease axonal type 2C [RCV000816397]\|Inborn genetic diseases [RCV002431412]\|not provided [RCV000482103]	likely benign\|drug response\|uncertain significance	12	109783653	109783653	Human	2	name
12894443	CV408514	single nucleotide variant	NM_021625.5(TRPV4):c.946C>A (p.Arg316Ser)	not provided [RCV000482826]	likely pathogenic	12	109798820	109798820	Human		name
12895440	CV408515	single nucleotide variant	NM_021625.5(TRPV4):c.944G>A (p.Arg315Gln)	Charcot-Marie-Tooth disease axonal type 2C [RCV000823337]\|not provided [RCV000486469]	pathogenic\|likely pathogenic\|uncertain significance	12	109798822	109798822	Human	1	name
12900079	CV408516	single nucleotide variant	NM_021625.5(TRPV4):c.569C>T (p.Thr190Met)	Brachyrachia (short spine dysplasia) [RCV000765042]\|not provided [RCV000481614]	pathogenic\|uncertain significance	12	109803134	109803134	Human	11	name
12914094	CV421896	single nucleotide variant	NM_021625.5(TRPV4):c.326A>G (p.Asp109Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV002304208]\|not provided [RCV000494639]	uncertain significance	12	109814471	109814471	Human	1	name
13212351	CV425949	single nucleotide variant	NM_021625.5(TRPV4):c.773T>C (p.Val258Ala)	not provided [RCV000498695]	uncertain significance	12	109800698	109800698	Human		name
13484905	CV441502	single nucleotide variant	NM_021625.5(TRPV4):c.655C>T (p.Arg219Cys)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645545]\|TRPV4-related disorder [RCV004737595]\|not specified [RCV000518590]	uncertain significance	12	109803048	109803048	Human	1	name , alternate_id
13478953	CV441503	single nucleotide variant	NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)	Brachyrachia (short spine dysplasia) [RCV001112861]\|Charcot-Marie-Tooth disease [RCV001173247]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000684901]\|Inborn genetic diseases [RCV002341214]\|Metatropic dysplasia [RCV001114214]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV00111421 ... (more) 5]\|Scapuloperoneal spinal muscular atrophy [RCV001114213]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV001114216]\|not provided [RCV000994976]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109808332	109808332	Human	9	name
13483669	CV441504	single nucleotide variant	NM_021625.5(TRPV4):c.472G>A (p.Val158Met)	Charcot-Marie-Tooth disease axonal type 2C [RCV000807452]\|not specified [RCV000518233]	uncertain significance	12	109808383	109808383	Human	1	name
8602644	CV44189	single nucleotide variant	NM_021625.5(TRPV4):c.812G>C (p.Arg271Pro)	Familial digital arthropathy-brachydactyly [RCV000029173]	pathogenic	12	109800659	109800659	Human	1	name
8602645	CV44190	single nucleotide variant	NM_021625.5(TRPV4):c.809G>T (p.Gly270Val)	Familial digital arthropathy-brachydactyly [RCV000029174]	pathogenic	12	109800662	109800662	Human	1	name
13483068	CV444908	indel	NM_021625.5(TRPV4):c.1492-1_1497delinsCCT	not provided [RCV000521960]	uncertain significance	12	109794017	109794023	Human		name
13495271	CV461602	single nucleotide variant	NM_021625.5(TRPV4):c.656G>A (p.Arg219His)	Charcot-Marie-Tooth disease axonal type 2C [RCV000559502]	uncertain significance	12	109803047	109803047	Human	1	name
13473079	CV461605	single nucleotide variant	NM_021625.5(TRPV4):c.646A>G (p.Ile216Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV000547655]\|Inborn genetic diseases [RCV002367886]	likely benign\|uncertain significance	12	109803057	109803057	Human	2	name
13496329	CV461836	single nucleotide variant	NM_021625.5(TRPV4):c.701T>C (p.Ile234Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV000537778]	uncertain significance	12	109803002	109803002	Human	1	name
13482197	CV462180	single nucleotide variant	NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter)	Brachyrachia (short spine dysplasia) [RCV001109833]\|Charcot-Marie-Tooth disease [RCV001173240]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000551761]\|Charcot-Marie-Tooth disease type 4 [RCV000856931]\|Inborn genetic diseases [RCV002384176]\|Metatropic dysplasia [RCV001109834]\|Neuronopathy, distal h ... (more) ereditary motor, autosomal dominant 8 [RCV001109835]\|Scapuloperoneal spinal muscular atrophy [RCV001109836]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV001109837]\|not provided [RCV001508337]\|not specified [RCV005418209]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109798808	109798808	Human	10	name
8604236	CV48018	single nucleotide variant	NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)	Charcot-Marie-Tooth disease axonal type 2C [RCV000032600]\|Inborn genetic diseases [RCV001265863]\|Neuromuscular disease [RCV000202485]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000190887]\|not provided [RCV000235384]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|not provided	12	109808298	109808298	Human	4	name
13509776	CV482007	single nucleotide variant	NM_021625.5(TRPV4):c.709C>T (p.Arg237Ter)	Charcot-Marie-Tooth disease axonal type 2C [RCV000794894]\|Inborn genetic diseases [RCV002367977]\|not provided [RCV000578797]	uncertain significance	12	109802994	109802994	Human	2	name
13531895	CV511958	single nucleotide variant	NM_021625.5(TRPV4):c.842A>C (p.Tyr281Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV003505129]\|Inborn genetic diseases [RCV000623733]\|not provided [RCV005414517]	likely pathogenic\|uncertain significance	12	109800629	109800629	Human	2	name
13531612	CV511960	single nucleotide variant	NM_021625.5(TRPV4):c.616C>T (p.Arg206Cys)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645551]\|Inborn genetic diseases [RCV000623486]	likely benign\|uncertain significance	12	109803087	109803087	Human	2	name
13592839	CV511961	single nucleotide variant	NM_021625.5(TRPV4):c.395C>T (p.Pro132Leu)	Charcot-Marie-Tooth disease [RCV001172894]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000645539]\|Inborn genetic diseases [RCV000622464]	uncertain significance	12	109808460	109808460	Human	3	name
13617608	CV526659	single nucleotide variant	NM_021625.5(TRPV4):c.940A>G (p.Met314Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645544]\|not provided [RCV005429265]	uncertain significance	12	109798826	109798826	Human	1	name
13617624	CV526664	single nucleotide variant	NM_021625.5(TRPV4):c.805C>A (p.Arg269Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645554]	likely pathogenic\|uncertain significance	12	109800666	109800666	Human	1	name
13617613	CV526665	single nucleotide variant	NM_021625.5(TRPV4):c.710G>T (p.Arg237Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645547]	likely pathogenic	12	109802993	109802993	Human	1	name
13617622	CV527225	single nucleotide variant	NM_021625.5(TRPV4):c.602A>G (p.Asn201Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645553]	uncertain significance	12	109803101	109803101	Human	1	name
13617610	CV527226	single nucleotide variant	NM_021625.5(TRPV4):c.331G>A (p.Gly111Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV000645546]\|Inborn genetic diseases [RCV002325270]	uncertain significance	12	109814466	109814466	Human	2	name
13816689	CV565038	single nucleotide variant	NM_021625.5(TRPV4):c.686C>T (p.Ser229Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV000692493]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001535701]\|not provided [RCV001575183]	uncertain significance\|not provided	12	109803017	109803017	Human	2	name
13803782	CV566317	single nucleotide variant	NM_021625.5(TRPV4):c.935C>T (p.Ala312Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV000699390]	conflicting interpretations of pathogenicity\|uncertain significance	12	109798831	109798831	Human	1	name
13817420	CV567662	single nucleotide variant	NM_021625.5(TRPV4):c.556C>T (p.Arg186Ter)	Charcot-Marie-Tooth disease axonal type 2C [RCV000693039]\|not provided [RCV003140096]	uncertain significance	12	109808299	109808299	Human	1	name
13803207	CV571244	single nucleotide variant	NM_021625.5(TRPV4):c.746G>A (p.Arg249His)	Charcot-Marie-Tooth disease [RCV001173244]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000698984]\|Inborn genetic diseases [RCV002388293]\|not provided [RCV001508339]	likely benign\|uncertain significance	12	109800725	109800725	Human	3	name
13802289	CV577239	single nucleotide variant	NM_021625.5(TRPV4):c.743G>A (p.Arg248His)	Charcot-Marie-Tooth disease axonal type 2C [RCV003768113]\|not provided [RCV000713886]	uncertain significance	12	109800728	109800728	Human	1	name
14699978	CV625273	single nucleotide variant	NM_021625.5(TRPV4):c.904A>T (p.Asn302Tyr)	Charcot-Marie-Tooth disease [RCV000789591]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001310245]	uncertain significance	12	109798862	109798862	Human	2	name
14699977	CV625274	single nucleotide variant	NM_021625.5(TRPV4):c.694C>A (p.Arg232Ser)	Charcot-Marie-Tooth disease [RCV000789589]	uncertain significance	12	109803009	109803009	Human	1	name
14706988	CV640621	single nucleotide variant	NM_021625.5(TRPV4):c.877G>A (p.Ala293Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV000792186]	uncertain significance	12	109798889	109798889	Human	1	name
14701266	CV640622	single nucleotide variant	NM_021625.5(TRPV4):c.834G>T (p.Glu278Asp)	Charcot-Marie-Tooth disease axonal type 2C [RCV000806161]	uncertain significance	12	109800637	109800637	Human	1	name
14702217	CV640623	single nucleotide variant	NM_021625.5(TRPV4):c.827A>C (p.Lys276Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV000806828]	uncertain significance	12	109800644	109800644	Human	1	name
14701882	CV640624	single nucleotide variant	NM_021625.5(TRPV4):c.820C>T (p.Gln274Ter)	Charcot-Marie-Tooth disease axonal type 2C [RCV000806597]	uncertain significance	12	109800651	109800651	Human	1	name
14714602	CV640625	single nucleotide variant	NM_021625.5(TRPV4):c.737T>C (p.Ile246Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV000810947]	uncertain significance	12	109800734	109800734	Human	1	name
14722381	CV640626	single nucleotide variant	NM_021625.5(TRPV4):c.661G>A (p.Gly221Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV000797534]\|Inborn genetic diseases [RCV005286212]\|not specified [RCV001662822]	likely benign\|uncertain significance	12	109803042	109803042	Human	2	name
14703143	CV640627	single nucleotide variant	NM_021625.5(TRPV4):c.345C>G (p.His115Gln)	Charcot-Marie-Tooth disease axonal type 2C [RCV000807226]\|not provided [RCV001664425]	uncertain significance	12	109814452	109814452	Human	1	name
14746781	CV672086	single nucleotide variant	NM_021625.5(TRPV4):c.617G>A (p.Arg206His)	Charcot-Marie-Tooth disease axonal type 2C [RCV000844996]	uncertain significance\|not provided	12	109803086	109803086	Human	1	name
15099766	CV683039	single nucleotide variant	NM_021625.5(TRPV4):c.409G>C (p.Ala137Pro)	Charcot-Marie-Tooth disease [RCV000856934]	uncertain significance	12	109808446	109808446	Human	1	name
15133218	CV684281	single nucleotide variant	NM_021625.5(TRPV4):c.760G>C (p.Val254Leu)	Charcot-Marie-Tooth disease [RCV001174126]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000863927]\|Inborn genetic diseases [RCV002390759]	likely benign	12	109800711	109800711	Human	3	name
21068440	CV793407	single nucleotide variant	NM_021625.5(TRPV4):c.799C>A (p.Gln267Lys)	not provided [RCV000993355]	uncertain significance	12	109800672	109800672	Human		name
26902339	CV839281	single nucleotide variant	NM_021625.5(TRPV4):c.943C>G (p.Arg315Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV001064018]	pathogenic	12	109798823	109798823	Human	1	name
26899752	CV839282	single nucleotide variant	NM_021625.5(TRPV4):c.733G>A (p.Ala245Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV001046600]	uncertain significance	12	109800738	109800738	Human	1	name
26900077	CV839283	single nucleotide variant	NM_021625.5(TRPV4):c.535C>T (p.Arg179Cys)	Charcot-Marie-Tooth disease axonal type 2C [RCV001048344]\|Inborn genetic diseases [RCV002348385]\|not provided [RCV001811630]	likely benign\|uncertain significance	12	109808320	109808320	Human	2	name
26899977	CV839284	single nucleotide variant	NM_021625.5(TRPV4):c.449A>T (p.Asn150Ile)	Charcot-Marie-Tooth disease axonal type 2C [RCV001047861]	uncertain significance	12	109808406	109808406	Human	1	name
26898153	CV839285	single nucleotide variant	NM_021625.5(TRPV4):c.341G>A (p.Arg114His)	Charcot-Marie-Tooth disease axonal type 2C [RCV001035673]\|not provided [RCV004792637]	uncertain significance	12	109814456	109814456	Human	1	name
28868622	CV869239	single nucleotide variant	NM_021625.5(TRPV4):c.812G>A (p.Arg271His)	Brachyrachia (short spine dysplasia) [RCV001113948]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001113951]\|Inborn genetic diseases [RCV002418583]\|Metatropic dysplasia [RCV001112611]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001113952]\|Scapuloperoneal spinal muscular atrophy ... (more) [RCV001113950]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV001113949]	conflicting interpretations of pathogenicity\|uncertain significance	12	109800659	109800659	Human	8	name
28911070	CV869240	single nucleotide variant	NM_021625.5(TRPV4):c.797C>T (p.Ala266Val)	Brachyrachia (short spine dysplasia) [RCV001109917]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001109918]\|Metatropic dysplasia [RCV001109916]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001109919]\|Scapuloperoneal spinal muscular atrophy [RCV001110714]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV001109920]	uncertain significance	12	109800674	109800674	Human	7	name
28911116	CV869241	single nucleotide variant	NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys)	Brachyrachia (short spine dysplasia) [RCV001110015]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001110013]\|Inborn genetic diseases [RCV002379651]\|Metatropic dysplasia [RCV001110014]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001110012]\|Scapuloperoneal spinal muscular atrophy ... (more) [RCV001110010]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV001110011]	benign\|likely benign\|uncertain significance	12	109800729	109800729	Human	8	name
28871701	CV869242	single nucleotide variant	NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg)	Brachyrachia (short spine dysplasia) [RCV001114217]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001110181]\|Metatropic dysplasia [RCV001110179]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001114219]\|Scapuloperoneal spinal muscular atrophy [RCV001110180]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV001114218]	uncertain significance	12	109808353	109808353	Human	7	name
28869089	CV869243	single nucleotide variant	NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu)	Brachyrachia (short spine dysplasia) [RCV001112937]\|Charcot-Marie-Tooth disease [RCV001173252]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001112939]\|Metatropic dysplasia [RCV001110941]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001112936]\|Scapuloperoneal spinal muscular atro ... (more) phy [RCV001112938]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV001112940]\|not provided [RCV003159180]	uncertain significance	12	109808430	109808430	Human	8	name
34889944	CV905354	single nucleotide variant	NM_021625.5(TRPV4):c.796G>C (p.Ala266Pro)	Charcot-Marie-Tooth disease [RCV001173255]	uncertain significance	12	109800675	109800675	Human	1	name
34889706	CV905356	single nucleotide variant	NM_021625.5(TRPV4):c.403C>T (p.Pro135Ser)	Charcot-Marie-Tooth disease [RCV001172891]\|Inborn genetic diseases [RCV004032947]	uncertain significance	12	109808452	109808452	Human	2	name
38477151	CV926459	single nucleotide variant	NM_021625.5(TRPV4):c.922C>T (p.Pro308Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV001216005]\|Inborn genetic diseases [RCV002375185]	uncertain significance	12	109798844	109798844	Human	2	name
38480618	CV926460	single nucleotide variant	NM_021625.5(TRPV4):c.745C>T (p.Arg249Cys)	Charcot-Marie-Tooth disease axonal type 2C [RCV001217621]	uncertain significance	12	109800726	109800726	Human	1	name
38493397	CV926461	single nucleotide variant	NM_021625.5(TRPV4):c.442G>A (p.Val148Ile)	Charcot-Marie-Tooth disease axonal type 2C [RCV001224212]	uncertain significance	12	109808413	109808413	Human	1	name
38490457	CV935908	deletion	NM_021625.5(TRPV4):c.1867del (p.Leu623fs)	Charcot-Marie-Tooth disease axonal type 2C [RCV001210665]	uncertain significance	12	109792387	109792387	Human	1	name
38461822	CV935912	single nucleotide variant	NM_021625.5(TRPV4):c.978T>A (p.His326Gln)	Charcot-Marie-Tooth disease axonal type 2C [RCV001212097]	uncertain significance	12	109798788	109798788	Human	1	name
126747172	CV994891	single nucleotide variant	NM_021625.5(TRPV4):c.581G>A (p.Cys194Tyr)	Charcot-Marie-Tooth disease axonal type 2C [RCV001306205]	uncertain significance	12	109803122	109803122	Human	1	name
126741015	CV994892	single nucleotide variant	NM_021625.5(TRPV4):c.389A>T (p.Lys130Met)	Charcot-Marie-Tooth disease axonal type 2C [RCV001295843]	uncertain significance	12	109808466	109808466	Human	1	name
8691469	CV141429	single nucleotide variant	NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)	Brachyrachia (short spine dysplasia) [RCV000316275]\|Charcot-Marie-Tooth disease [RCV001172931]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000988903]\|Connective tissue disorder [RCV002277274]\|Inborn genetic diseases [RCV002426680]\|Metatropic dysplasia [RCV000330115]\|Neuronopathy, distal hereditar ... (more) y motor, autosomal dominant 8 [RCV000275076]\|Scapuloperoneal spinal muscular atrophy [RCV000364968]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000276187]\|not provided [RCV000515055]\|not specified [RCV000125618]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	109783719	109783719	Human	10	name
9586764	CV165486	single nucleotide variant	NM_021625.5(TRPV4):c.1570T>G (p.Phe524Val)	not provided [RCV000143801]	benign	12	109793944	109793944	Human		name
156335763	CV1906002	single nucleotide variant	NM_021625.5(TRPV4):c.1093G>C (p.Val365Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV003090056]	uncertain significance	12	109798673	109798673	Human	1	name
156446217	CV1951253	single nucleotide variant	NM_021625.5(TRPV4):c.1463C>T (p.Thr488Ile)	Charcot-Marie-Tooth disease axonal type 2C [RCV003117185]	uncertain significance	12	109794357	109794357	Human	1	name
156322370	CV1978896	single nucleotide variant	NM_021625.5(TRPV4):c.1336C>G (p.Arg446Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV002630434]	uncertain significance	12	109794484	109794484	Human	1	name
156329336	CV1990855	single nucleotide variant	NM_021625.5(TRPV4):c.1055A>G (p.Lys352Arg)	Charcot-Marie-Tooth disease axonal type 2C [RCV002630840]	uncertain significance	12	109798711	109798711	Human	1	name
8596636	CV20031	single nucleotide variant	NM_021625.5(TRPV4):c.1847G>A (p.Arg616Gln)	Brachyrachia (short spine dysplasia) [RCV000005280]\|Charcot-Marie-Tooth disease axonal type 2C [RCV003505079]\|Skeletal dysplasia [RCV000202519]\|not provided [RCV001269634]	pathogenic\|not provided	12	109792407	109792407	Human	5	name
8596637	CV20032	single nucleotide variant	NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)	Brachyrachia (short spine dysplasia) [RCV000005281]\|Charcot-Marie-Tooth disease [RCV001172890]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000545248]\|Metatropic dysplasia [RCV003992145]\|Skeletal dysplasia [RCV000202464]\|Skeletal dysplasia [RCV000202535]\|not provided [RCV000728663]	pathogenic\|likely pathogenic\|not provided	12	109792396	109792396	Human	8	name
8596638	CV20033	single nucleotide variant	NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)	Charcot-Marie-Tooth disease axonal type 2C [RCV000691603]\|Inborn genetic diseases [RCV002512802]\|Metatropic dysplasia [RCV001618207]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV002243623]\|Parastremmatic dwarfism [RCV000005283]\|Skeletal dysplasia [RCV000202560]\|Spondylometaphyseal ... (more) dysplasia, Kozlowski type [RCV000005282]\|not provided [RCV000498625]	pathogenic\|likely pathogenic\|not provided	12	109792695	109792695	Human	8	name
8596640	CV20035	single nucleotide variant	NM_021625.5(TRPV4):c.2146G>T (p.Ala716Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV005089177]\|Skeletal dysplasia [RCV000202454]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000005285]	pathogenic\|uncertain significance\|not provided	12	109788462	109788462	Human	4	name
8596642	CV20037	single nucleotide variant	NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV000707315]\|Inborn genetic diseases [RCV000624630]\|Metatropic dysplasia [RCV000005287]\|Parastremmatic dwarfism [RCV001253672]\|Skeletal dysplasia [RCV000202554]\|Spondyloepimetaphyseal dysplasia, Maroteaux type [RCV000005288]\|Spondylometaphyseal dysplasia, ... (more) Kozlowski type [RCV003388565]\|not provided [RCV001311314]	pathogenic\|not provided	12	109784378	109784378	Human	8	name
156101660	CV2009815	single nucleotide variant	NM_021625.5(TRPV4):c.1500C>A (p.Tyr500Ter)	Charcot-Marie-Tooth disease axonal type 2C [RCV002706692]	uncertain significance	12	109794014	109794014	Human	1	name
156114912	CV2015628	single nucleotide variant	NM_021625.5(TRPV4):c.1616G>T (p.Gly539Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV002695812]	uncertain significance	12	109793569	109793569	Human	1	name
156146736	CV2037396	single nucleotide variant	NM_021625.5(TRPV4):c.1403C>T (p.Ala468Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV002786715]	uncertain significance	12	109794417	109794417	Human	1	name
156373996	CV2052852	single nucleotide variant	NM_021625.5(TRPV4):c.1639G>T (p.Gly547Cys)	Charcot-Marie-Tooth disease axonal type 2C [RCV002814535]	uncertain significance	12	109793546	109793546	Human	1	name
156208668	CV2074135	single nucleotide variant	NM_021625.5(TRPV4):c.1345A>C (p.Met449Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV002829214]	uncertain significance	12	109794475	109794475	Human	1	name
156153520	CV2098589	single nucleotide variant	NM_021625.5(TRPV4):c.2494C>A (p.Leu832Met)	Charcot-Marie-Tooth disease axonal type 2C [RCV002890735]	uncertain significance	12	109783743	109783743	Human	1	name
156107187	CV2108055	single nucleotide variant	NM_021625.5(TRPV4):c.2294G>A (p.Gly765Asp)	Charcot-Marie-Tooth disease axonal type 2C [RCV002927271]	uncertain significance	12	109786752	109786752	Human	1	name
156124357	CV2124817	single nucleotide variant	NM_021625.5(TRPV4):c.1952A>C (p.Asn651Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV002953625]	uncertain significance	12	109788656	109788656	Human	1	name
156329666	CV2161270	single nucleotide variant	NM_021625.5(TRPV4):c.1520A>G (p.Asp507Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV003029693]	uncertain significance	12	109793994	109793994	Human	1	name
156229201	CV2164908	single nucleotide variant	NM_021625.5(TRPV4):c.2209T>G (p.Trp737Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV003043018]\|not provided [RCV004763514]	uncertain significance	12	109786837	109786837	Human	1	name
156112849	CV2212616	single nucleotide variant	NM_021625.5(TRPV4):c.1615G>A (p.Gly539Arg)	Charcot-Marie-Tooth disease axonal type 2C [RCV005099552]\|Inborn genetic diseases [RCV002707320]	uncertain significance	12	109793570	109793570	Human	2	name
243064232	CV2411279	single nucleotide variant	NM_021625.5(TRPV4):c.1405G>A (p.Val469Ile)	not provided [RCV003142851]	uncertain significance	12	109794415	109794415	Human		name
243051150	CV2415726	single nucleotide variant	NM_021625.5(TRPV4):c.1344G>T (p.Glu448Asp)	Scapuloperoneal spinal muscular atrophy [RCV003148333]	uncertain significance	12	109794476	109794476	Human	1	name
243053989	CV2416468	single nucleotide variant	NM_021625.5(TRPV4):c.2350A>G (p.Asn784Asp)	not provided [RCV003149529]	uncertain significance	12	109784424	109784424	Human		name
401735122	CV2690784	single nucleotide variant	NM_021625.5(TRPV4):c.1139C>A (p.Thr380Lys)	Inborn genetic diseases [RCV003249684]	uncertain significance	12	109798627	109798627	Human	1	name
401760952	CV2726594	single nucleotide variant	NM_021625.5(TRPV4):c.1058G>T (p.Cys353Phe)	Inborn genetic diseases [RCV003299689]	uncertain significance	12	109798708	109798708	Human	1	name
401760987	CV2726605	single nucleotide variant	NM_021625.5(TRPV4):c.1060G>C (p.Ala354Pro)	Inborn genetic diseases [RCV003299700]	uncertain significance	12	109798706	109798706	Human	1	name
401761018	CV2726615	single nucleotide variant	NM_021625.5(TRPV4):c.1064G>T (p.Arg355Leu)	Inborn genetic diseases [RCV003299710]	uncertain significance	12	109798702	109798702	Human	1	name
401796845	CV2739820	single nucleotide variant	NM_021625.5(TRPV4):c.2116A>C (p.Thr706Pro)	not provided [RCV003319781]	uncertain significance	12	109788492	109788492	Human		name
401931725	CV2801442	single nucleotide variant	NM_021625.5(TRPV4):c.2398G>A (p.Gly800Ser)	TRPV4-related disorder [RCV004552439]	uncertain significance	12	109784376	109784376	Human		name , trait , alternate_id
401917268	CV2829762	single nucleotide variant	NM_021625.5(TRPV4):c.2135A>G (p.Asn712Ser)	not provided [RCV003443806]	uncertain significance	12	109788473	109788473	Human		name
401963878	CV2844899	single nucleotide variant	NM_021625.5(TRPV4):c.1596G>T (p.Leu532Phe)	Auditory neuropathy [RCV003484471]	likely pathogenic	12	109793589	109793589	Human	1	name
401962494	CV2845116	single nucleotide variant	NM_021625.5(TRPV4):c.1367A>G (p.Asn456Ser)	not provided [RCV003482577]	uncertain significance	12	109794453	109794453	Human		name
402476377	CV2862648	single nucleotide variant	NM_021625.5(TRPV4):c.2470T>A (p.Ser824Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV003505800]	uncertain significance	12	109783767	109783767	Human	1	name
402475039	CV2865929	single nucleotide variant	NM_021625.5(TRPV4):c.1636G>A (p.Asp546Asn)	Charcot-Marie-Tooth disease axonal type 2C [RCV003505550]	uncertain significance	12	109793549	109793549	Human	1	name
402478362	CV2870147	single nucleotide variant	NM_021625.5(TRPV4):c.1741G>A (p.Ala581Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV003506155]	uncertain significance	12	109792735	109792735	Human	1	name
402477893	CV2880089	single nucleotide variant	NM_021625.5(TRPV4):c.1105G>A (p.Asp369Asn)	Charcot-Marie-Tooth disease axonal type 2C [RCV003506079]	uncertain significance	12	109798661	109798661	Human	1	name
402478179	CV2880372	single nucleotide variant	NM_021625.5(TRPV4):c.2512C>T (p.Pro838Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV003506125]	uncertain significance	12	109783725	109783725	Human	1	name
402479772	CV2882485	single nucleotide variant	NM_021625.5(TRPV4):c.2338G>A (p.Val780Met)	Charcot-Marie-Tooth disease axonal type 2C [RCV003506332]\|not provided [RCV004775428]	uncertain significance	12	109784436	109784436	Human	1	name
402481237	CV2890855	single nucleotide variant	NM_021625.5(TRPV4):c.2311A>C (p.Thr771Pro)	Charcot-Marie-Tooth disease axonal type 2C [RCV003506508]	uncertain significance	12	109786735	109786735	Human	1	name
402478787	CV2891438	single nucleotide variant	NM_021625.5(TRPV4):c.1291G>A (p.Ala431Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV003506215]	uncertain significance	12	109796566	109796566	Human	1	name
402479100	CV2891950	single nucleotide variant	NM_021625.5(TRPV4):c.2461C>T (p.Arg821Cys)	Charcot-Marie-Tooth disease axonal type 2C [RCV003506255]	uncertain significance	12	109783776	109783776	Human	1	name
402471511	CV2904469	single nucleotide variant	NM_021625.5(TRPV4):c.2045A>G (p.Asp682Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV003504689]	uncertain significance	12	109788563	109788563	Human	1	name
402472758	CV2921677	single nucleotide variant	NM_021625.5(TRPV4):c.1590A>C (p.Lys530Asn)	Charcot-Marie-Tooth disease axonal type 2C [RCV003504974]	uncertain significance	12	109793595	109793595	Human	1	name
402473071	CV2922277	single nucleotide variant	NM_021625.5(TRPV4):c.2564G>C (p.Gly855Ala)	Charcot-Marie-Tooth disease axonal type 2C [RCV003505045]	uncertain significance	12	109783673	109783673	Human	1	name
402475723	CV2923686	single nucleotide variant	NM_021625.5(TRPV4):c.1233T>A (p.Tyr411Ter)	Charcot-Marie-Tooth disease axonal type 2C [RCV003505678]	uncertain significance	12	109796624	109796624	Human	1	name
405065046	CV2943996	single nucleotide variant	NM_021625.5(TRPV4):c.1058G>A (p.Cys353Tyr)	Charcot-Marie-Tooth disease axonal type 2C [RCV003611731]	pathogenic	12	109798708	109798708	Human	1	name
405065076	CV2944059	single nucleotide variant	NM_021625.5(TRPV4):c.1165A>G (p.Ile389Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV003611733]	uncertain significance	12	109796692	109796692	Human	1	name
405067284	CV2957799	single nucleotide variant	NM_021625.5(TRPV4):c.1333A>G (p.Asn445Asp)	Charcot-Marie-Tooth disease axonal type 2C [RCV003611901]	uncertain significance	12	109794487	109794487	Human	1	name
405075938	CV2970354	single nucleotide variant	NM_021625.5(TRPV4):c.1087G>C (p.Glu363Gln)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612519]	uncertain significance	12	109798679	109798679	Human	1	name
405077036	CV2971416	single nucleotide variant	NM_021625.5(TRPV4):c.2354G>C (p.Trp785Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612573]	uncertain significance	12	109784420	109784420	Human	1	name
405078060	CV2972378	single nucleotide variant	NM_021625.5(TRPV4):c.1473C>A (p.Tyr491Ter)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612658]	uncertain significance	12	109794347	109794347	Human	1	name
405077998	CV2975535	single nucleotide variant	NM_021625.5(TRPV4):c.2396C>A (p.Pro799Gln)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612653]	uncertain significance	12	109784378	109784378	Human	1	name
405078485	CV2976327	single nucleotide variant	NM_021625.5(TRPV4):c.1513A>G (p.Thr505Ala)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612696]	uncertain significance	12	109794001	109794001	Human	1	name
405078780	CV2983951	single nucleotide variant	NM_021625.5(TRPV4):c.1972C>A (p.Pro658Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612722]	uncertain significance	12	109788636	109788636	Human	1	name
405083863	CV2993251	single nucleotide variant	NM_021625.5(TRPV4):c.2213C>T (p.Ala738Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV003613163]	uncertain significance	12	109786833	109786833	Human	1	name
405082692	CV2994995	single nucleotide variant	NM_021625.5(TRPV4):c.1373T>C (p.Leu458Pro)	Charcot-Marie-Tooth disease axonal type 2C [RCV003613071]	uncertain significance	12	109794447	109794447	Human	1	name
405082529	CV3001682	single nucleotide variant	NM_021625.5(TRPV4):c.1378C>G (p.Arg460Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV003613058]	uncertain significance	12	109794442	109794442	Human	1	name
405084839	CV3004476	single nucleotide variant	NM_021625.5(TRPV4):c.1878C>G (p.Ile626Met)	Charcot-Marie-Tooth disease axonal type 2C [RCV003613239]	uncertain significance	12	109792376	109792376	Human	1	name
405084681	CV3007789	single nucleotide variant	NM_021625.5(TRPV4):c.1924A>G (p.Met642Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV003613228]	uncertain significance	12	109788684	109788684	Human	1	name
405084938	CV3011664	single nucleotide variant	NM_021625.5(TRPV4):c.2000G>C (p.Ser667Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV003613247]	uncertain significance	12	109788608	109788608	Human	1	name
405057470	CV3019146	single nucleotide variant	NM_021625.5(TRPV4):c.1133C>A (p.Ala378Asp)	Charcot-Marie-Tooth disease axonal type 2C [RCV003611029]	uncertain significance	12	109798633	109798633	Human	1	name
405057694	CV3026515	single nucleotide variant	NM_021625.5(TRPV4):c.2209T>C (p.Trp737Arg)	Charcot-Marie-Tooth disease axonal type 2C [RCV003611047]	uncertain significance	12	109786837	109786837	Human	1	name
405057808	CV3029879	single nucleotide variant	NM_021625.5(TRPV4):c.1778C>G (p.Thr593Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV003611062]	uncertain significance	12	109792698	109792698	Human	1	name
405062080	CV3044462	single nucleotide variant	NM_021625.5(TRPV4):c.2321G>A (p.Arg774His)	Brachyrachia (short spine dysplasia) [RCV005409956]\|Charcot-Marie-Tooth disease axonal type 2C [RCV003611420]	uncertain significance	12	109786725	109786725	Human	11	name
405069676	CV3060873	single nucleotide variant	NM_021625.5(TRPV4):c.1130C>T (p.Ala377Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612090]	uncertain significance	12	109798636	109798636	Human	1	name
405070431	CV3063550	single nucleotide variant	NM_021625.5(TRPV4):c.1316A>T (p.Tyr439Phe)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612059]	uncertain significance	12	109796541	109796541	Human	1	name
405073312	CV3073356	single nucleotide variant	NM_021625.5(TRPV4):c.1028C>T (p.Thr343Ile)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612318]\|Inborn genetic diseases [RCV004968439]	uncertain significance	12	109798738	109798738	Human	2	name
405074417	CV3076586	single nucleotide variant	NM_021625.5(TRPV4):c.1963C>G (p.Pro655Ala)	Charcot-Marie-Tooth disease axonal type 2C [RCV003612394]	uncertain significance	12	109788645	109788645	Human	1	name
405113720	CV3133673	single nucleotide variant	NM_021625.5(TRPV4):c.1349T>C (p.Leu450Pro)	Charcot-Marie-Tooth disease axonal type 2C [RCV003836466]\|not provided [RCV005409965]	uncertain significance	12	109794471	109794471	Human	1	name
405197794	CV3168198	single nucleotide variant	NM_021625.5(TRPV4):c.1391G>T (p.Arg464Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV003860330]\|Inborn genetic diseases [RCV004369526]	uncertain significance	12	109794429	109794429	Human	2	name
405254250	CV3175055	single nucleotide variant	NM_021625.5(TRPV4):c.2303C>T (p.Ser768Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV003871507]\|Inborn genetic diseases [RCV004968543]\|not provided [RCV005242447]	likely benign\|uncertain significance	12	109786743	109786743	Human	2	name
402486564	CV3181818	single nucleotide variant	NM_021625.5(TRPV4):c.1907T>C (p.Leu636Pro)	Charcot-Marie-Tooth disease axonal type 2C [RCV003876486]	uncertain significance	12	109788701	109788701	Human	1	name
405268758	CV3201140	single nucleotide variant	NM_021625.5(TRPV4):c.1636G>T (p.Asp546Tyr)	TRPV4-related disorder [RCV004548810]	uncertain significance	12	109793549	109793549	Human		name , trait , alternate_id
405691052	CV3227479	single nucleotide variant	NM_021625.5(TRPV4):c.2199G>A (p.Trp733Ter)	Charcot-Marie-Tooth disease axonal type 2C [RCV003991824]	likely pathogenic	12	109788409	109788409	Human	1	name
8596648	CV33469	single nucleotide variant	NM_021625.5(TRPV4):c.2395C>G (p.Pro799Ala)	Metatropic dysplasia [RCV000005298]	pathogenic	12	109784379	109784379	Human	1	name
8596649	CV33470	single nucleotide variant	NM_021625.5(TRPV4):c.2395C>T (p.Pro799Ser)	Metatropic dysplasia [RCV000005299]\|Skeletal dysplasia [RCV000202484]	pathogenic\|not provided	12	109784379	109784379	Human	3	name
8596650	CV33471	single nucleotide variant	NM_021625.5(TRPV4):c.2396C>G (p.Pro799Arg)	Charcot-Marie-Tooth disease axonal type 2C [RCV005089285]\|Metatropic dysplasia [RCV000005300]\|Skeletal dysplasia [RCV000202509]	pathogenic\|likely pathogenic\|not provided	12	109784378	109784378	Human	4	name
8596652	CV33474	single nucleotide variant	NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)	Brachyrachia (short spine dysplasia) [RCV001331193]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001851964]\|Metatropic dysplasia [RCV000023424]\|Scapuloperoneal spinal muscular atrophy [RCV001823100]\|Skeletal dysplasia [RCV000202566]\|Spondyloepimetaphyseal dysplasia, Maroteaux type [RCV000005304]\|S ... (more) pondylometaphyseal dysplasia, Kozlowski type [RCV000005303]\|not provided [RCV001549550]	pathogenic\|not provided	12	109784385	109784385	Human	10	name
407477018	CV3495038	single nucleotide variant	NM_021625.5(TRPV4):c.1544T>C (p.Val515Ala)	not specified [RCV004690940]	uncertain significance	12	109793970	109793970	Human		name
408382311	CV3504429	single nucleotide variant	NM_021625.5(TRPV4):c.1678G>A (p.Val560Met)	TRPV4-related disorder [RCV004729760]	uncertain significance	12	109792798	109792798	Human		name , trait , alternate_id
408390220	CV3524984	single nucleotide variant	NM_021625.5(TRPV4):c.1351G>C (p.Ala451Pro)	not provided [RCV004769879]	uncertain significance	12	109794469	109794469	Human		name
596921496	CV3535118	single nucleotide variant	NM_021625.5(TRPV4):c.1565T>C (p.Val522Ala)	not provided [RCV004784677]	uncertain significance	12	109793949	109793949	Human		name
596938527	CV3549603	single nucleotide variant	NM_021625.5(TRPV4):c.1879G>C (p.Gly627Arg)	not provided [RCV004812643]	uncertain significance	12	109792375	109792375	Human		name
597625558	CV3621363	single nucleotide variant	NM_021625.5(TRPV4):c.1667A>T (p.Tyr556Phe)	Inborn genetic diseases [RCV004964635]	uncertain significance	12	109792809	109792809	Human	1	name
597685115	CV3707161	single nucleotide variant	NM_021625.5(TRPV4):c.1667A>C (p.Tyr556Ser)	Brachyrachia (short spine dysplasia) [RCV005006801]	uncertain significance	12	109792809	109792809	Human	11	name
597652711	CV3730686	single nucleotide variant	NM_021625.5(TRPV4):c.1034T>A (p.Met345Lys)	not provided [RCV005000976]	uncertain significance	12	109798732	109798732	Human		name
597834712	CV3739542	single nucleotide variant	NM_021625.5(TRPV4):c.1174C>G (p.Arg392Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV005063761]	uncertain significance	12	109796683	109796683	Human	1	name
597964334	CV3754332	single nucleotide variant	NM_021625.5(TRPV4):c.1506C>A (p.Tyr502Ter)	Charcot-Marie-Tooth disease axonal type 2C [RCV005082439]	uncertain significance	12	109794008	109794008	Human	1	name
597943934	CV3754915	single nucleotide variant	NM_021625.5(TRPV4):c.1840C>A (p.Leu614Ile)	Charcot-Marie-Tooth disease axonal type 2C [RCV005078104]	uncertain significance	12	109792414	109792414	Human	1	name
597859086	CV3755907	single nucleotide variant	NM_021625.5(TRPV4):c.1550C>T (p.Thr517Met)	Charcot-Marie-Tooth disease axonal type 2C [RCV005089058]	uncertain significance	12	109793964	109793964	Human	1	name
597917868	CV3767929	single nucleotide variant	NM_021625.5(TRPV4):c.1633A>T (p.Ile545Phe)	Charcot-Marie-Tooth disease axonal type 2C [RCV005114730]	uncertain significance	12	109793552	109793552	Human	1	name
597917883	CV3767931	single nucleotide variant	NM_021625.5(TRPV4):c.1385A>T (p.Lys462Met)	Charcot-Marie-Tooth disease axonal type 2C [RCV005114732]	uncertain significance	12	109794435	109794435	Human	1	name
597917889	CV3767932	single nucleotide variant	NM_021625.5(TRPV4):c.1354G>C (p.Val452Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV005114733]	uncertain significance	12	109794466	109794466	Human	1	name
597917895	CV3767933	single nucleotide variant	NM_021625.5(TRPV4):c.1295C>A (p.Ser432Tyr)	Charcot-Marie-Tooth disease axonal type 2C [RCV005114734]	uncertain significance	12	109796562	109796562	Human	1	name
597917900	CV3767934	single nucleotide variant	NM_021625.5(TRPV4):c.1289A>G (p.Glu430Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV005114735]	uncertain significance	12	109796568	109796568	Human	1	name
597955152	CV3796068	single nucleotide variant	NM_021625.5(TRPV4):c.2053A>G (p.Met685Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV005136885]	uncertain significance	12	109788555	109788555	Human	1	name
597884782	CV3799659	single nucleotide variant	NM_021625.5(TRPV4):c.1580C>G (p.Thr527Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV005150326]	uncertain significance	12	109793934	109793934	Human	1	name
597916511	CV3810987	single nucleotide variant	NM_021625.5(TRPV4):c.1858G>T (p.Val620Phe)	Charcot-Marie-Tooth disease axonal type 2C [RCV005155022]	uncertain significance	12	109792396	109792396	Human	1	name
597961567	CV3812180	single nucleotide variant	NM_021625.5(TRPV4):c.1210C>T (p.Arg404Cys)	Charcot-Marie-Tooth disease axonal type 2C [RCV005163833]	uncertain significance	12	109796647	109796647	Human	1	name
597942385	CV3815635	single nucleotide variant	NM_021625.5(TRPV4):c.2401A>C (p.Lys801Gln)	Charcot-Marie-Tooth disease axonal type 2C [RCV005159324]	uncertain significance	12	109784373	109784373	Human	1	name
597857127	CV3816704	single nucleotide variant	NM_021625.5(TRPV4):c.2524G>T (p.Val842Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV005146277]	uncertain significance	12	109783713	109783713	Human	1	name
597967028	CV3820333	single nucleotide variant	NM_021625.5(TRPV4):c.1489A>C (p.Thr497Pro)	Charcot-Marie-Tooth disease axonal type 2C [RCV005165370]	uncertain significance	12	109794331	109794331	Human	1	name
597855526	CV3821794	single nucleotide variant	NM_021625.5(TRPV4):c.1201C>T (p.His401Tyr)	Charcot-Marie-Tooth disease axonal type 2C [RCV005174272]	uncertain significance	12	109796656	109796656	Human	1	name
597843866	CV3827364	single nucleotide variant	NM_021625.5(TRPV4):c.1907T>A (p.Leu636Gln)	Charcot-Marie-Tooth disease axonal type 2C [RCV005172635]	uncertain significance	12	109788701	109788701	Human	1	name
597975582	CV3828585	single nucleotide variant	NM_021625.5(TRPV4):c.1075G>C (p.Asp359His)	Charcot-Marie-Tooth disease axonal type 2C [RCV005169214]	uncertain significance	12	109798691	109798691	Human	1	name
597902962	CV3845892	single nucleotide variant	NM_021625.5(TRPV4):c.2255T>C (p.Leu752Pro)	Charcot-Marie-Tooth disease axonal type 2C [RCV005181514]	uncertain significance	12	109786791	109786791	Human	1	name
597904452	CV3846141	single nucleotide variant	NM_021625.5(TRPV4):c.2008C>T (p.Leu670Phe)	Charcot-Marie-Tooth disease axonal type 2C [RCV005181763]	uncertain significance	12	109788600	109788600	Human	1	name
598125676	CV3885885	single nucleotide variant	NM_021625.5(TRPV4):c.2303C>G (p.Ser768Trp)	not provided [RCV005241688]	uncertain significance	12	109786743	109786743	Human		name
598237098	CV3932296	single nucleotide variant	NM_021625.5(TRPV4):c.2359C>T (p.His787Tyr)	Inborn genetic diseases [RCV005296178]	uncertain significance	12	109784415	109784415	Human	1	name
8602229	CV39425	single nucleotide variant	NM_021625.5(TRPV4):c.1805A>G (p.Tyr602Cys)	Skeletal dysplasia [RCV000202448]\|Spondyloepimetaphyseal dysplasia, Maroteaux type [RCV000023425]	pathogenic\|not provided	12	109792671	109792671	Human	3	name
8602230	CV39426	single nucleotide variant	NM_021625.5(TRPV4):c.1625C>A (p.Ser542Tyr)	Charcot-Marie-Tooth disease axonal type 2C [RCV000023426]\|Skeletal dysplasia [RCV000202508]	pathogenic\|not provided	12	109793560	109793560	Human	3	name
8602236	CV39432	single nucleotide variant	NM_021625.5(TRPV4):c.2219C>T (p.Thr740Ile)	Metatropic dysplasia [RCV000023432]\|Skeletal dysplasia [RCV000202544]	pathogenic\|not provided	12	109786827	109786827	Human	3	name
616932951	CV4010449	single nucleotide variant	NM_021625.5(TRPV4):c.1819C>T (p.Gln607Ter)	Avascular necrosis of femoral head, primary, 2 [RCV005403794]	uncertain significance	12	109792657	109792657	Human	1	name
617150930	CV4021975	single nucleotide variant	NM_021625.5(TRPV4):c.1426G>T (p.Val476Phe)	not provided [RCV005426936]	uncertain significance	12	109794394	109794394	Human		name
39457241	CV822331	single nucleotide variant	NM_021625.5(TRPV4):c.2391G>C (p.Glu797Asp)	Metatropic dysplasia [RCV001256207]	likely pathogenic	12	109784383	109784383	Human	1	name
8627170	CV82314	single nucleotide variant	NM_021625.4(TRPV4):c.1495C>T (p.Pro499Ser)	Malignant melanoma [RCV000062393]	not provided	12	109794019	109794019	Human		name
26900552	CV839270	single nucleotide variant	NM_021625.5(TRPV4):c.2609C>T (p.Pro870Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV001051754]\|Inborn genetic diseases [RCV004031613]	likely benign\|uncertain significance	12	109783628	109783628	Human	2	name
26902874	CV839271	single nucleotide variant	NM_021625.5(TRPV4):c.2555G>A (p.Arg852His)	Charcot-Marie-Tooth disease axonal type 2C [RCV001066554]	uncertain significance	12	109783682	109783682	Human	1	name
26902123	CV839272	single nucleotide variant	NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys)	Charcot-Marie-Tooth disease [RCV001173242]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001062609]\|Connective tissue disorder [RCV002276608]\|TRPV4-related disorder [RCV004547967]\|not provided [RCV004693553]	uncertain significance	12	109783683	109783683	Human	3	name , alternate_id
26900517	CV839273	single nucleotide variant	NM_021625.5(TRPV4):c.2446C>T (p.Arg816Cys)	Charcot-Marie-Tooth disease axonal type 2C [RCV001051441]	uncertain significance	12	109784328	109784328	Human	1	name
26899826	CV839274	single nucleotide variant	NM_021625.5(TRPV4):c.2264C>T (p.Ala755Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV001046996]	uncertain significance	12	109786782	109786782	Human	1	name
26901621	CV839275	single nucleotide variant	NM_021625.5(TRPV4):c.2251T>C (p.Phe751Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV001059210]	uncertain significance	12	109786795	109786795	Human	1	name
26899241	CV839276	single nucleotide variant	NM_021625.5(TRPV4):c.1924A>T (p.Met642Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV001042962]	uncertain significance	12	109788684	109788684	Human	1	name
26900387	CV839277	single nucleotide variant	NM_021625.5(TRPV4):c.1510A>G (p.Thr504Ala)	Charcot-Marie-Tooth disease axonal type 2C [RCV001050213]\|not provided [RCV001776108]	uncertain significance	12	109794004	109794004	Human	1	name
26903459	CV839278	single nucleotide variant	NM_021625.5(TRPV4):c.1309C>G (p.Leu437Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV001069756]	uncertain significance	12	109796548	109796548	Human	1	name
26903262	CV839280	single nucleotide variant	NM_021625.5(TRPV4):c.1084C>A (p.Leu362Met)	Charcot-Marie-Tooth disease axonal type 2C [RCV001068658]	uncertain significance	12	109798682	109798682	Human	1	name
28910422	CV869238	single nucleotide variant	NM_021625.5(TRPV4):c.2258G>A (p.Arg753Lys)	Brachyrachia (short spine dysplasia) [RCV001111500]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001111499]\|Metatropic dysplasia [RCV001111498]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001111497]\|Scapuloperoneal spinal muscular atrophy [RCV001109161]\|Spondylometaphyseal dysp ... (more) lasia, Kozlowski type [RCV001111496]	uncertain significance	12	109786788	109786788	Human	7	name
34889940	CV905340	single nucleotide variant	NM_021625.5(TRPV4):c.2615A>G (p.Ter872Trp)	Charcot-Marie-Tooth disease [RCV001173253]	uncertain significance	12	109783622	109783622	Human	1	name
34889945	CV905342	single nucleotide variant	NM_021625.5(TRPV4):c.2524G>A (p.Val842Met)	Charcot-Marie-Tooth disease [RCV001173259]	uncertain significance	12	109783713	109783713	Human	1	name
34889947	CV905343	single nucleotide variant	NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu)	Charcot-Marie-Tooth disease [RCV001173261]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001314290]\|not provided [RCV004761944]	uncertain significance	12	109783730	109783730	Human	2	name
34889709	CV905346	single nucleotide variant	NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp)	Charcot-Marie-Tooth disease [RCV001172896]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001873603]\|Inborn genetic diseases [RCV002418603]	uncertain significance	12	109788566	109788566	Human	3	name
34889704	CV905348	single nucleotide variant	NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter)	Charcot-Marie-Tooth disease [RCV001172889]\|Charcot-Marie-Tooth disease axonal type 2C [RCV002559655]\|Inborn genetic diseases [RCV002411666]	likely pathogenic\|likely benign\|uncertain significance	12	109792408	109792408	Human	3	name
34889936	CV905350	single nucleotide variant	NM_021625.5(TRPV4):c.1175G>A (p.Arg392Gln)	Charcot-Marie-Tooth disease [RCV001173250]\|Charcot-Marie-Tooth disease axonal type 2C [RCV003611548]\|not provided [RCV001565156]	uncertain significance	12	109796682	109796682	Human	2	name
34889934	CV905351	single nucleotide variant	NM_021625.5(TRPV4):c.1174C>T (p.Arg392Trp)	Charcot-Marie-Tooth disease [RCV001173248]\|Charcot-Marie-Tooth disease axonal type 2C [RCV005093734]\|Inborn genetic diseases [RCV004032948]	uncertain significance	12	109796683	109796683	Human	3	name
34889938	CV905352	single nucleotide variant	NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn)	Charcot-Marie-Tooth disease [RCV001173251]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001373039]\|not provided [RCV002225804]	likely benign\|uncertain significance	12	109798727	109798727	Human	2	name
38461147	CV919405	single nucleotide variant	NM_021625.5(TRPV4):c.1771T>A (p.Tyr591Asn)	Charcot-Marie-Tooth disease axonal type 2C [RCV001197313]	likely pathogenic	12	109792705	109792705	Human	1	name
38461238	CV919406	single nucleotide variant	NM_021625.5(TRPV4):c.1178A>T (p.Glu393Val)	Charcot-Marie-Tooth disease axonal type 2C [RCV001197424]	uncertain significance	12	109796679	109796679	Human	1	name
38461603	CV919407	single nucleotide variant	NM_021625.5(TRPV4):c.1075G>A (p.Asp359Asn)	Charcot-Marie-Tooth disease axonal type 2C [RCV001197780]	uncertain significance	12	109798691	109798691	Human	1	name
38490699	CV926456	single nucleotide variant	NM_021625.5(TRPV4):c.2117C>A (p.Thr706Asn)	Charcot-Marie-Tooth disease axonal type 2C [RCV001222322]	uncertain significance	12	109788491	109788491	Human	1	name
38490946	CV926458	single nucleotide variant	NM_021625.5(TRPV4):c.1987A>G (p.Ser663Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV001222520]	uncertain significance	12	109788621	109788621	Human	1	name
38487629	CV935906	single nucleotide variant	NM_021625.5(TRPV4):c.2378G>A (p.Gly793Asp)	Charcot-Marie-Tooth disease axonal type 2C [RCV001209395]\|Inborn genetic diseases [RCV002561710]\|not provided [RCV003992464]	uncertain significance	12	109784396	109784396	Human	2	name
38457992	CV935907	single nucleotide variant	NM_021625.5(TRPV4):c.2044G>A (p.Asp682Asn)	Charcot-Marie-Tooth disease axonal type 2C [RCV001211286]\|not provided [RCV001357141]	uncertain significance	12	109788564	109788564	Human	1	name
38466435	CV935909	single nucleotide variant	NM_021625.5(TRPV4):c.1283G>A (p.Gly428Glu)	Charcot-Marie-Tooth disease axonal type 2C [RCV001201860]	uncertain significance	12	109796574	109796574	Human	1	name
38488905	CV935910	single nucleotide variant	NM_021625.5(TRPV4):c.1162C>T (p.His388Tyr)	Charcot-Marie-Tooth disease axonal type 2C [RCV001209965]	uncertain significance	12	109796695	109796695	Human	1	name
38481195	CV935911	single nucleotide variant	NM_021625.5(TRPV4):c.1108G>A (p.Gly370Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV001206724]\|Inborn genetic diseases [RCV002451441]\|not provided [RCV001562295]	likely benign\|uncertain significance	12	109798658	109798658	Human	2	name
38474400	CV947776	single nucleotide variant	NM_021625.5(TRPV4):c.2459A>G (p.Asp820Gly)	Charcot-Marie-Tooth disease axonal type 2C [RCV001232199]\|Inborn genetic diseases [RCV002429991]\|not provided [RCV004778019]	uncertain significance	12	109783778	109783778	Human	2	name
38456503	CV947777	single nucleotide variant	NM_021625.5(TRPV4):c.2167G>A (p.Gly723Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV001228372]	uncertain significance	12	109788441	109788441	Human	1	name
38487612	CV947779	single nucleotide variant	NM_021625.5(TRPV4):c.1265C>A (p.Ser422Tyr)	Charcot-Marie-Tooth disease axonal type 2C [RCV001237668]	uncertain significance	12	109796592	109796592	Human	1	name
38496663	CV956744	single nucleotide variant	NM_021625.5(TRPV4):c.1496C>T (p.Pro499Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV001242703]\|Inborn genetic diseases [RCV002393629]\|not provided [RCV003490153]	uncertain significance	12	109794018	109794018	Human	2	name
40903553	CV977251	single nucleotide variant	NM_021625.5(TRPV4):c.1303G>A (p.Glu435Lys)	TRPV4-associated skeletal dysplasias [RCV001270864]\|not provided [RCV001587312]	likely pathogenic\|uncertain significance	12	109796554	109796554	Human		name
41405188	CV981767	single nucleotide variant	NM_021625.5(TRPV4):c.2269C>T (p.Arg757Cys)	Charcot-Marie-Tooth disease axonal type 2C [RCV001871675]\|Inborn genetic diseases [RCV004035533]\|not provided [RCV001812449]	uncertain significance	12	109786777	109786777	Human	2	name
41405634	CV981768	single nucleotide variant	NM_021625.5(TRPV4):c.1879G>A (p.Gly627Ser)	Charcot-Marie-Tooth disease axonal type 2C [RCV003770448]\|not provided [RCV001813102]	uncertain significance	12	109792375	109792375	Human	1	name
41406464	CV982806	single nucleotide variant	NM_021625.5(TRPV4):c.2458G>T (p.Asp820Tyr)	Charcot-Marie-Tooth disease axonal type 2C [RCV001312265]\|Inborn genetic diseases [RCV002447256]\|not provided [RCV001288532]	uncertain significance	12	109784316	109784316	Human	2	name
151724631	CV1514979	single nucleotide variant	NM_021625.5(TRPV4):c.2480C>A (p.Pro827His)	Charcot-Marie-Tooth disease axonal type 2C [RCV001983529]\|TRPV4-related disorder [RCV004553613]	pathogenic\|likely pathogenic	12	109783757	109783757	Human	1	alternate_id
155663858	CV1773183	single nucleotide variant	NM_021625.5(TRPV4):c.1124T>C (p.Met375Thr)	Charcot-Marie-Tooth disease axonal type 2C [RCV002296895]\|TRPV4-related disorder [RCV004548266]	likely pathogenic\|uncertain significance	12	109798642	109798642	Human	1	alternate_id
10405633	CV212981	single nucleotide variant	NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)	Brachyrachia (short spine dysplasia) [RCV000302858]\|Charcot-Marie-Tooth disease [RCV001173498]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001079469]\|Inborn genetic diseases [RCV002426944]\|Metatropic dysplasia [RCV000298886]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV00026753 ... (more) 4]\|Scapuloperoneal spinal muscular atrophy [RCV000357689]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000390430]\|TRPV4-related disorder [RCV004553086]\|not provided [RCV000196476]\|not specified [RCV000438539]	likely pathogenic\|benign\|likely benign	12	109786798	109786798	Human	9	alternate_id
11349743	CV241227	single nucleotide variant	NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met)	Brachyrachia (short spine dysplasia) [RCV000322807]\|Charcot-Marie-Tooth disease [RCV001172947]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000231731]\|Connective tissue disorder [RCV002277592]\|Metatropic dysplasia [RCV000379591]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV00031 ... (more) 9293]\|Scapuloperoneal spinal muscular atrophy [RCV000265422]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000376316]\|TRPV4-related disorder [RCV004547614]\|not provided [RCV001651093]\|not specified [RCV000249733]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	109792763	109792763	Human	9	alternate_id
11347079	CV241231	single nucleotide variant	NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp)	Charcot-Marie-Tooth disease [RCV001173243]\|Charcot-Marie-Tooth disease axonal type 2C [RCV000230906]\|Inborn genetic diseases [RCV002379021]\|TRPV4-related disorder [RCV004547612]\|not provided [RCV000235250]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	12	109794442	109794442	Human	3	alternate_id
11599350	CV323237	single nucleotide variant	NM_021625.5(TRPV4):c.1093G>A (p.Val365Met)	Brachyrachia (short spine dysplasia) [RCV000280339]\|Charcot-Marie-Tooth disease axonal type 2C [RCV001088439]\|Inborn genetic diseases [RCV002446560]\|Metatropic dysplasia [RCV000323547]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV000265021]\|Scapuloperoneal spinal muscular atrophy ... (more) [RCV000320172]\|Spondylometaphyseal dysplasia, Kozlowski type [RCV000378278]\|TRPV4-related disorder [RCV004549664]\|not provided [RCV000828726]	benign\|likely benign\|uncertain significance	12	109798673	109798673	Human	8	alternate_id
12893287	CV408512	single nucleotide variant	NM_021625.5(TRPV4):c.2401A>G (p.Lys801Glu)	TRPV4-related disorder [RCV005416274]\|not provided [RCV000478473]	likely pathogenic\|not provided	12	109784373	109784373	Human		alternate_id
13479929	CV441501	single nucleotide variant	NM_021625.5(TRPV4):c.1337G>T (p.Arg446Leu)	Charcot-Marie-Tooth disease axonal type 2C [RCV000861110]\|Inborn genetic diseases [RCV002383998]\|TRPV4-related disorder [RCV004553139]\|not provided [RCV001696825]\|not specified [RCV000517129]	benign\|likely benign\|conflicting interpretations of pathogenicity	12	109794483	109794483	Human	2	alternate_id
150333202	CV1172338	single nucleotide variant	NM_021625.5(TRPV4):c.1634T>A (p.Ile545Asn)	Charcot-Marie-Tooth disease axonal type 2C [RCV001882605]\|Inborn genetic diseases [RCV002405228]\|Neuronopathy, distal hereditary motor, autosomal dominant 8 [RCV001824992]\|not provided [RCV001539365]	uncertain significance\|not provided	12	109793551	109793551	Human	3	alternate_id
150535563	CV1306846	indel	NM_021625.5(TRPV4):c.713-14_713-9delinsCCCCCG	not provided [RCV001758900]	uncertain significance	12	109800767	109800772	Human		name

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