"Athena Diagnostics Inc"[submitter] AND "TRPV4"[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 546515	NM_021625.5(TRPV4):c.2585G>A (p.Arg862His)	TRPV4 (R862H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 215533	NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser)	TRPV4 (N833S +4 more)	Single nucleotide variant (missense variant)	Brachyrachia (short spine dysplasia) +9 more	GBenign/Likely benign
Select item 261418	NM_021625.5(TRPV4):c.2459-9T>G	TRPV4	Single nucleotide variant (intron variant)	not provided +9 more	GBenign
Select item 994832	NM_021625.5(TRPV4):c.2458G>T (p.Asp820Tyr)	TRPV4 (D713Y +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 245760	NM_021625.5(TRPV4):c.2452C>T (p.Arg818Cys)	TRPV4 (R818C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 219845	NM_021625.5(TRPV4):c.2433G>C (p.Ser811=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C +10 more	GBenign/Likely benign
Select item 448709	NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser)	TRPV4 (G809S +4 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Maroteaux type +11 more	GUncertain significance
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 586843	NM_021625.5(TRPV4):c.2273C>G (p.Ser758Cys)	TRPV4 (S758C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1256302	NM_021625.5(TRPV4):c.2256G>A (p.Leu752=)	TRPV4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 215919	NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)	TRPV4 (V750I +4 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant 8 +10 more	GBenign/Likely benign
Select item 448708	NM_021625.5(TRPV4):c.2076C>T (p.Pro692=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C +2 more	GBenign/Likely benign
Select item 307124	NM_021625.5(TRPV4):c.2043C>T (p.Gly681=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +9 more	GBenign/Likely benign
Select item 137725	NM_021625.5(TRPV4):c.2034C>T (p.Ile678=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C +7 more	GBenign
Select item 696327	NM_021625.5(TRPV4):c.1884C>T (p.Tyr628=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GBenign/Likely benign
Select item 261415	NM_021625.5(TRPV4):c.1744C>T (p.Leu582=)	TRPV4	Single nucleotide variant (synonymous variant)	Scapuloperoneal spinal muscular atrophy +10 more	GBenign/Likely benign
Select item 241386	NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met)	TRPV4 (I571M +4 more)	Single nucleotide variant (missense variant)	not provided +10 more	GBenign
Select item 409287	NM_021625.5(TRPV4):c.1658+5G>A	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GUncertain significance
Select item 282949	NM_021625.5(TRPV4):c.1491+10C>T	TRPV4	Single nucleotide variant (intron variant)	TRPV4-related condition +9 more	GConflicting classifications of pathogenicity
Select item 1006277	NM_021625.5(TRPV4):c.1478C>T (p.Pro493Leu)	TRPV4 (P386L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 381035	NM_021625.5(TRPV4):c.1464C>T (p.Thr488=)	TRPV4	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 469036	NM_021625.5(TRPV4):c.1398C>T (p.Phe466=)	TRPV4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +9 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)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 2684081	NM_021625.5(TRPV4):c.1367A>G (p.Asn456Ser)	TRPV4 (N349S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 241380	NM_021625.5(TRPV4):c.1341C>T (p.His447=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C +8 more	GBenign/Likely benign
Select item 448707	NM_021625.5(TRPV4):c.1337G>T (p.Arg446Leu)	TRPV4 (R446L +4 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 493123	NM_021625.5(TRPV4):c.1278G>A (p.Thr426=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C +3 more	GBenign/Likely benign
Select item 137724	NM_021625.5(TRPV4):c.1153-10C>T	TRPV4	Single nucleotide variant (intron variant)	Brachyrachia (short spine dysplasia) +13 more	GBenign/Likely benign
Select item 1256301	NM_021625.5(TRPV4):c.1064G>A (p.Arg355His)	TRPV4 (R308H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +2 more	GConflicting classifications of pathogenicity
Select item 4999	NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)	TRPV4 (R315W +2 more)	Single nucleotide variant (missense variant)	TRPV4-Associated Disorders +5 more	GPathogenic/Likely pathogenic
Select item 198246	NM_021625.5(TRPV4):c.854-4G>A	TRPV4	Single nucleotide variant (intron variant)	not provided +10 more	GBenign/Likely benign
Select item 307136	NM_021625.5(TRPV4):c.854-5C>T	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +14 more	GBenign/Likely benign
Select item 409292	NM_021625.5(TRPV4):c.847T>A (p.Tyr283Asn)	TRPV4 (Y283N +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease +3 more	GUncertain significance
Select item 220190	NM_021625.5(TRPV4):c.810G>A (p.Gly270=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	Spondylometaphyseal dysplasia, Kozlowski type +9 more	GBenign/Likely benign
Select item 5000	NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	TRPV4 (R269H +1 more)	Single nucleotide variant (missense variant +1 more)	Avascular necrosis of femoral head, primary, 2 +14 more	GPathogenic/Likely pathogenic
Select item 5002	NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)	TRPV4 (R269C +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C +2 more	GPathogenic
Select item 805687	NM_021625.5(TRPV4):c.799C>A (p.Gln267Lys)	TRPV4 (Q233K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 137723	NM_021625.5(TRPV4):c.795C>T (p.His265=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease +7 more	GBenign
Select item 137722	NM_021625.5(TRPV4):c.789T>C (p.Asp263=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C +7 more	GBenign
Select item 215921	NM_021625.5(TRPV4):c.769C>G (p.Leu257Val)	TRPV4 (L257V +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C +9 more	GBenign/Likely benign
Select item 586844	NM_021625.5(TRPV4):c.743G>A (p.Arg248His)	TRPV4 (R248H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 215920	NM_021625.5(TRPV4):c.712+10C>T	TRPV4	Single nucleotide variant (intron variant)	not provided +8 more	GBenign/Likely benign
Select item 30472	NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)	TRPV4 (R232C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +2 more	GPathogenic
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 643755	NM_021625.5(TRPV4):c.661G>A (p.Gly221Ser)	TRPV4 (G187S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 448712	NM_021625.5(TRPV4):c.655C>T (p.Arg219Cys)	TRPV4 (R219C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GUncertain significance
Select item 126480	NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)	TRPV4 (A217S +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +10 more	GBenign
Select item 39419	NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)	TRPV4 (R186Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 307140	NM_021625.5(TRPV4):c.549G>A (p.Glu183=)	TRPV4	Single nucleotide variant (synonymous variant)	TRPV4-related condition +10 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)	Charcot-Marie-Tooth disease axonal type 2C +8 more	GConflicting classifications of pathogenicity
Select item 307141	NM_021625.5(TRPV4):c.501C>T (p.Asp167=)	TRPV4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +7 more	GBenign/Likely benign
Select item 448710	NM_021625.5(TRPV4):c.472G>A (p.Val158Met)	TRPV4 (V158M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GUncertain significance
Select item 241388	NM_021625.5(TRPV4):c.396G>A (p.Pro132=)	TRPV4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 241387	NM_021625.5(TRPV4):c.387-4C>T	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +8 more	GBenign
Select item 651796	NM_021625.5(TRPV4):c.345C>G (p.His115Gln)	TRPV4 (H115Q +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GUncertain significance
Select item 1427523	NM_021625.5(TRPV4):c.191G>A (p.Arg64Gln)	TRPV4 (R64Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 215917	NM_021625.5(TRPV4):c.152C>T (p.Pro51Leu)	TRPV4 (P51L)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GBenign/Likely benign
Select item 390141	NM_021625.5(TRPV4):c.143C>T (p.Ser48Leu)	TRPV4 (S48L)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C +2 more	GConflicting classifications of pathogenicity
Select item 241389	NM_021625.5(TRPV4):c.81T>C (p.Gly27=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	Brachyrachia (short spine dysplasia) +8 more	GBenign
Select item 440358	NM_021625.5(TRPV4):c.57C>T (p.Pro19=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C +4 more	GBenign/Likely benign
Select item 5003	NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser)	TRPV4 (P19S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +9 more	GBenign
Select item 195368	NM_021625.5(TRPV4):c.33G>T (p.Gly11=)	TRPV4	Single nucleotide variant (synonymous variant)	not specified +10 more	GBenign/Likely benign
Select item 994833	NM_021625.5(TRPV4):c.24C>A (p.Pro8=)	TRPV4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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Items: 63