ClinVar for MedGen (Select 82698) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1064181	NM_021625.5(TRPV4):c.190C>T (p.Arg64Ter)	TRPV4 (R30* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2C +10 more	GUncertain significance
Select item 883056	NM_021625.5(TRPV4):c.*2G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2C +5 more	GUncertain significance
Select item 882983	NM_021625.5(TRPV4):c.-59C>T	MIR4497, TRPV4	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C +5 more	GUncertain significance
Select item 882982	NM_021625.5(TRPV4):c.*190C>T	TRPV4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2C +5 more	GBenign
Select item 882712	NM_021625.5(TRPV4):c.812G>A (p.Arg271His)	TRPV4 (R237H +1 more)	Single nucleotide variant (missense variant +1 more)	Metatropic dysplasia +6 more	GConflicting classifications of pathogenicity
Select item 882031	NM_021625.5(TRPV4):c.2433G>A (p.Ser811=)	TRPV4	Single nucleotide variant (synonymous variant)	Brachyrachia (short spine dysplasia) +5 more	GConflicting classifications of pathogenicity
Select item 881830	NM_021625.5(TRPV4):c.*227A>G	TRPV4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2C +5 more	GUncertain significance
Select item 881731	NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu)	TRPV4 (P142L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +7 more	GUncertain significance
Select item 881730	NM_021625.5(TRPV4):c.*500C>T	TRPV4	Single nucleotide variant (3 prime UTR variant)	Scapuloperoneal spinal muscular atrophy +5 more	GUncertain significance
Select item 881447	NM_021625.4(TRPV4):c.-92G>T	MIR4497, TRPV4	Single nucleotide variant (non-coding transcript variant)	Scapuloperoneal spinal muscular atrophy +5 more	GUncertain significance
Select item 881446	NM_021625.5(TRPV4):c.*83C>G	TRPV4	Single nucleotide variant (3 prime UTR variant)	Spondylometaphyseal dysplasia, Kozlowski type +5 more	GUncertain significance
Select item 881445	NM_021625.5(TRPV4):c.*145C>T	TRPV4	Single nucleotide variant (3 prime UTR variant)	Scapuloperoneal spinal muscular atrophy +5 more	GUncertain significance
Select item 881386	NM_021625.5(TRPV4):c.*303G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Spondylometaphyseal dysplasia, Kozlowski type +5 more	GUncertain significance
Select item 881336	NM_021625.5(TRPV4):c.195A>G (p.Pro65=)	TRPV4	Single nucleotide variant (synonymous variant)	Scapuloperoneal spinal muscular atrophy +5 more	GConflicting classifications of pathogenicity
Select item 881335	NM_021625.5(TRPV4):c.*411A>G	TRPV4	Single nucleotide variant (3 prime UTR variant)	Spondylometaphyseal dysplasia, Kozlowski type +5 more	GUncertain significance
Select item 881334	NM_021625.5(TRPV4):c.*421G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Scapuloperoneal spinal muscular atrophy +6 more	GUncertain significance
Select item 881272	NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg)	TRPV4 (G168R +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant 8 +5 more	GUncertain significance
Select item 881173	NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys)	TRPV4 (R248C +1 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal dominant 8 +6 more	GConflicting classifications of pathogenicity
Select item 881124	NM_021625.5(TRPV4):c.797C>T (p.Ala266Val)	TRPV4 (A232V +1 more)	Single nucleotide variant (missense variant +1 more)	Scapuloperoneal spinal muscular atrophy +5 more	GUncertain significance
Select item 880695	NM_021625.5(TRPV4):c.2258G>A (p.Arg753Lys)	TRPV4 (R693K +4 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant 8 +5 more	GUncertain significance
Select item 682229	NM_021625.5(TRPV4):c.2439C>T (p.Thr813=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C +6 more	GConflicting classifications of pathogenicity
Select item 651174	NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys)	TRPV4 (R34C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +12 more	GUncertain significance
Select item 583175	NM_021625.5(TRPV4):c.1465G>A (p.Ala489Thr)	TRPV4 (A489T +4 more)	Single nucleotide variant (missense variant)	Metatropic dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 582636	NM_021625.5(TRPV4):c.1729G>A (p.Val577Met)	TRPV4 (V577M +4 more)	Single nucleotide variant (missense variant)	Metatropic dysplasia +6 more	GConflicting classifications of pathogenicity
Select item 578089	NM_021625.5(TRPV4):c.1584C>T (p.Asn528=)	TRPV4	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal dominant 8 +7 more	GConflicting classifications of pathogenicity
Select item 575960	NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn)	TRPV4 (D62N +1 more)	Single nucleotide variant (missense variant)	Familial digital arthropathy-brachydactyly +12 more	GUncertain significance
Select item 567260	NM_021625.5(TRPV4):c.2162C>G (p.Thr721Arg)	TRPV4 (T721R +4 more)	Single nucleotide variant (missense variant)	Scapuloperoneal spinal muscular atrophy +5 more	GUncertain significance
Select item 536873	NM_021625.5(TRPV4):c.1074C>T (p.Pro358=)	TRPV4	Single nucleotide variant (synonymous variant)	Scapuloperoneal spinal muscular atrophy +6 more	GBenign/Likely benign
Select item 536854	NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys)	TRPV4 (R774C +4 more)	Single nucleotide variant (missense variant)	Scapuloperoneal spinal muscular atrophy +6 more	GConflicting classifications of pathogenicity
Select item 521669	NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe)	TRPV4 (Y567F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 521109	NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg)	TRPV4 (L459R +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +12 more	GConflicting classifications of pathogenicity
Select item 517843	NM_021625.5(TRPV4):c.651G>A (p.Ala217=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C +7 more	GConflicting classifications of pathogenicity
Select item 499138	NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)	TRPV4	Single nucleotide variant (synonymous variant)	Connective tissue disorder +9 more	GConflicting classifications of pathogenicity
Select item 469047	NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter)	TRPV4 (R320* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 469041	NM_021625.5(TRPV4):c.2289C>T (p.Thr763=)	TRPV4	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 469036	NM_021625.5(TRPV4):c.1398C>T (p.Phe466=)	TRPV4	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 448711	NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)	TRPV4 (T175A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 448709	NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser)	TRPV4 (G809S +4 more)	Single nucleotide variant (missense variant)	Scapuloperoneal spinal muscular atrophy +11 more	GUncertain significance
Select item 433144	NM_021625.5(TRPV4):c.2479C>G (p.Pro827Ala)	TRPV4 (P827A +4 more)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia, Kozlowski type	GUncertain significance
Select item 424209	NM_021625.5(TRPV4):c.569C>T (p.Thr190Met)	TRPV4 (T190M +1 more)	Single nucleotide variant (missense variant)	Parastremmatic dwarfism +11 more	GUncertain significance
Select item 409288	NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu)	TRPV4 (S659L +4 more)	Single nucleotide variant (missense variant)	Parastremmatic dwarfism +13 more	GConflicting classifications of pathogenicity
Select item 386671	NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=)	TRPV4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 380668	NM_021625.5(TRPV4):c.1658+15C>T	TRPV4	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal dominant 8 +7 more	GBenign/Likely benign
Select item 378763	NM_021625.5(TRPV4):c.2472G>A (p.Ser824=)	TRPV4	Single nucleotide variant (synonymous variant)	Spondylometaphyseal dysplasia, Kozlowski type +8 more	GBenign/Likely benign
Select item 307145	NM_021625.5(TRPV4):c.-74G>A	MIR4497, TRPV4	Single nucleotide variant (non-coding transcript variant +1 more)	Metatropic dysplasia +5 more	GUncertain significance
Select item 307144	NM_021625.5(TRPV4):c.171T>C (p.Pro57=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 307143	NM_021625.5(TRPV4):c.205A>C (p.Met69Leu)	TRPV4 (M69L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 307142	NM_021625.5(TRPV4):c.427C>A (p.Pro143Thr)	TRPV4 (P143T +1 more)	Single nucleotide variant (missense variant)	Metatropic dysplasia +5 more	GUncertain significance
Select item 307141	NM_021625.5(TRPV4):c.501C>T (p.Asp167=)	TRPV4	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 307140	NM_021625.5(TRPV4):c.549G>A (p.Glu183=)	TRPV4	Single nucleotide variant (synonymous variant)	Scapuloperoneal spinal muscular atrophy +9 more	GBenign/Likely benign
Select item 307139	NM_021625.5(TRPV4):c.622G>A (p.Asp208Asn)	TRPV4 (D208N +1 more)	Single nucleotide variant (missense variant)	Metatropic dysplasia +5 more	GUncertain significance
Select item 307138	NM_021625.5(TRPV4):c.650C>T (p.Ala217Val)	TRPV4 (A217V +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant 8 +5 more	GConflicting classifications of pathogenicity
Select item 307137	NM_021625.5(TRPV4):c.760G>A (p.Val254Met)	TRPV4 (V254M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +8 more	GBenign/Likely benign
Select item 307136	NM_021625.5(TRPV4):c.854-5C>T	TRPV4	Single nucleotide variant (intron variant)	Brachyrachia (short spine dysplasia) +14 more	GBenign/Likely benign
Select item 307135	NM_021625.5(TRPV4):c.936G>A (p.Ala312=)	TRPV4	Single nucleotide variant (synonymous variant)	Metatropic dysplasia +8 more	GBenign/Likely benign
Select item 307134	NM_021625.5(TRPV4):c.963C>A (p.Gly321=)	TRPV4	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal dominant 8 +7 more	GConflicting classifications of pathogenicity
Select item 307133	NM_021625.5(TRPV4):c.1093G>A (p.Val365Met)	TRPV4 (V365M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GBenign/Likely benign
Select item 307132	NM_021625.5(TRPV4):c.1211G>A (p.Arg404His)	TRPV4 (R404H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 307131	NM_021625.5(TRPV4):c.1352C>T (p.Ala451Val)	TRPV4 (A451V +4 more)	Single nucleotide variant (missense variant)	Scapuloperoneal spinal muscular atrophy +5 more	GUncertain significance
Select item 307130	NM_021625.5(TRPV4):c.1455C>T (p.Phe485=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C +7 more	GBenign/Likely benign
Select item 307129	NM_021625.5(TRPV4):c.1584+13C>T	TRPV4	Single nucleotide variant (intron variant)	Metatropic dysplasia +6 more	GBenign/Likely benign
Select item 307128	NM_021625.5(TRPV4):c.1601T>C (p.Met534Thr)	TRPV4 (M534T +4 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant 8 +5 more	GUncertain significance
Select item 307127	NM_021625.5(TRPV4):c.1796C>G (p.Thr599Arg)	TRPV4 (T599R +4 more)	Single nucleotide variant (missense variant)	Metatropic dysplasia +5 more	GUncertain significance
Select item 307126	NM_021625.5(TRPV4):c.1825-15C>G	TRPV4	Single nucleotide variant (intron variant)	Scapuloperoneal spinal muscular atrophy +8 more	GConflicting classifications of pathogenicity
Select item 307125	NM_021625.5(TRPV4):c.1825-15C>T	TRPV4	Single nucleotide variant (intron variant)	Scapuloperoneal spinal muscular atrophy +8 more	GBenign/Likely benign
Select item 307124	NM_021625.5(TRPV4):c.2043C>T (p.Gly681=)	TRPV4	Single nucleotide variant (synonymous variant)	not provided +9 more	GBenign/Likely benign
Select item 307123	NM_021625.5(TRPV4):c.2236C>G (p.Arg746Gly)	TRPV4 (R746G +4 more)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia, Kozlowski type +5 more	GUncertain significance
Select item 307121	NM_021625.5(TRPV4):c.2517C>T (p.Asp839=)	TRPV4	Single nucleotide variant (synonymous variant)	Metatropic dysplasia +6 more	GBenign/Likely benign
Select item 307120	NM_021625.5(TRPV4):c.*51G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Metatropic dysplasia +5 more	GUncertain significance
Select item 307119	NM_021625.5(TRPV4):c.*99C>T	TRPV4	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2C +5 more	GUncertain significance
Select item 307118	NM_021625.5(TRPV4):c.*212G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Scapuloperoneal spinal muscular atrophy +5 more	GUncertain significance
Select item 307117	NM_021625.5(TRPV4):c.*230G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Spondylometaphyseal dysplasia, Kozlowski type +5 more	GBenign
Select item 307116	NM_021625.5(TRPV4):c.*365C>T	TRPV4	Single nucleotide variant (3 prime UTR variant)	Spondylometaphyseal dysplasia, Kozlowski type +5 more	GBenign
Select item 307115	NM_021625.5(TRPV4):c.*378G>C	TRPV4	Single nucleotide variant (3 prime UTR variant)	Metatropic dysplasia +5 more	GBenign
Select item 307114	NM_021625.5(TRPV4):c.*405G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	Neuronopathy, distal hereditary motor, autosomal dominant 8 +5 more	GUncertain significance
Select item 307113	NM_021625.5(TRPV4):c.*423G>A	TRPV4	Single nucleotide variant (3 prime UTR variant)	not provided +6 more	GBenign/Likely benign
Select item 307112	NM_021625.5(TRPV4):c.*486T>C	TRPV4	Single nucleotide variant (3 prime UTR variant)	Scapuloperoneal spinal muscular atrophy +5 more	GBenign
Select item 283590	NM_021625.5(TRPV4):c.1824+4C>T	TRPV4	Single nucleotide variant (intron variant)	not specified +8 more	GBenign/Likely benign
Select item 282949	NM_021625.5(TRPV4):c.1491+10C>T	TRPV4	Single nucleotide variant (intron variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 261420	NM_021625.5(TRPV4):c.670A>C (p.Arg224=)	TRPV4	Single nucleotide variant (synonymous variant)	Metatropic dysplasia +8 more	GBenign
Select item 261418	NM_021625.5(TRPV4):c.2459-9T>G	TRPV4	Single nucleotide variant (intron variant)	Connective tissue disorder +9 more	GBenign
Select item 261415	NM_021625.5(TRPV4):c.1744C>T (p.Leu582=)	TRPV4	Single nucleotide variant (synonymous variant)	Connective tissue disorder +10 more	GBenign/Likely benign
Select item 246571	NM_021625.5(TRPV4):c.2560G>A (p.Asp854Asn)	TRPV4 (D854N +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +6 more	GUncertain significance
Select item 246569	NM_021625.5(TRPV4):c.2471C>T (p.Ser824Leu)	TRPV4 (S824L +4 more)	Single nucleotide variant (missense variant)	Familial digital arthropathy-brachydactyly +11 more	GUncertain significance
Select item 246556	NM_021625.5(TRPV4):c.402C>A (p.Ser134Arg)	TRPV4 (S134R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GBenign/Likely benign
Select item 246534	NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys)	TRPV4 (R464C +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +6 more	GConflicting classifications of pathogenicity
Select item 245915	NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met)	TRPV4 (T380M +2 more)	Single nucleotide variant (missense variant)	Brachyrachia (short spine dysplasia) +7 more	GConflicting classifications of pathogenicity
Select item 245716	NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp)	TRPV4 (G13W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +8 more	GUncertain significance
Select item 245675	NM_021625.5(TRPV4):c.1539C>T (p.Gly513=)	TRPV4	Single nucleotide variant (synonymous variant)	Scapuloperoneal spinal muscular atrophy +7 more	GBenign/Likely benign
Select item 241389	NM_021625.5(TRPV4):c.81T>C (p.Gly27=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	not specified +8 more	GBenign
Select item 241387	NM_021625.5(TRPV4):c.387-4C>T	TRPV4	Single nucleotide variant (intron variant)	Scapuloperoneal spinal muscular atrophy +8 more	GBenign
Select item 241386	NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met)	TRPV4 (I571M +4 more)	Single nucleotide variant (missense variant)	Scapuloperoneal spinal muscular atrophy +9 more	GBenign/Likely benign
Select item 241380	NM_021625.5(TRPV4):c.1341C>T (p.His447=)	TRPV4	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 220190	NM_021625.5(TRPV4):c.810G>A (p.Gly270=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder +9 more	GBenign/Likely benign
Select item 219845	NM_021625.5(TRPV4):c.2433G>C (p.Ser811=)	TRPV4	Single nucleotide variant (synonymous variant)	Connective tissue disorder +10 more	GBenign/Likely benign
Select item 216733	NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)	TRPV4 (A869T +4 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +8 more	GConflicting classifications of pathogenicity
Select item 215921	NM_021625.5(TRPV4):c.769C>G (p.Leu257Val)	TRPV4 (L257V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +9 more	GBenign/Likely benign
Select item 215920	NM_021625.5(TRPV4):c.712+10C>T	TRPV4	Single nucleotide variant (intron variant)	not specified +8 more	GBenign/Likely benign
Select item 215919	NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)	TRPV4 (V750I +4 more)	Single nucleotide variant (missense variant)	Scapuloperoneal spinal muscular atrophy +9 more	GBenign/Likely benign
Select item 215918	NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)	TRPV4 (I516V +4 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity

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