"Eurofins Ntd Llc (ga)"[submitter] AND "TRPV4"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 388870	NM_021625.5(TRPV4):c.2559C>T (p.Cys853=)	TRPV4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 137726	NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)	TRPV4 (E840K +4 more)	Single nucleotide variant (missense variant)	Spondylometaphyseal dysplasia, Kozlowski type +10 more	GBenign/Likely benign
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 469041	NM_021625.5(TRPV4):c.2289C>T (p.Thr763=)	TRPV4	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal dominant 8 +7 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)	Charcot-Marie-Tooth disease axonal type 2C +9 more	GBenign/Likely benign
Select item 593378	NM_021625.5(TRPV4):c.2247C>T (p.Pro749=)	TRPV4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194260	NM_021625.5(TRPV4):c.2106C>T (p.Tyr702=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2C +2 more	GConflicting classifications of pathogenicity
Select item 4993	NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)	TRPV4 (V560I +3 more)	Single nucleotide variant (missense variant)	Metatropic dysplasia +3 more	GPathogenic/Likely pathogenic
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 193925	NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile)	TRPV4 (V562I +4 more)	Single nucleotide variant (missense variant)	Brachyrachia (short spine dysplasia) +9 more	GBenign/Likely benign
Select item 261414	NM_021625.5(TRPV4):c.1584+18G>C	TRPV4	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 215918	NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)	TRPV4 (I516V +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +9 more	GConflicting classifications of pathogenicity
Select item 282949	NM_021625.5(TRPV4):c.1491+10C>T	TRPV4	Single nucleotide variant (intron variant)	Spondylometaphyseal dysplasia, Kozlowski type +8 more	GConflicting classifications of pathogenicity
Select item 284375	NM_021625.5(TRPV4):c.1284G>A (p.Gly428=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C +3 more	GBenign/Likely benign
Select item 283925	NM_021625.5(TRPV4):c.1233T>C (p.Tyr411=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 137724	NM_021625.5(TRPV4):c.1153-10C>T	TRPV4	Single nucleotide variant (intron variant)	not specified +13 more	GBenign/Likely benign
Select item 198246	NM_021625.5(TRPV4):c.854-4G>A	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +10 more	GBenign/Likely benign
Select item 137722	NM_021625.5(TRPV4):c.789T>C (p.Asp263=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease +8 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)	Inborn genetic diseases +9 more	GBenign/Likely benign
Select item 126480	NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)	TRPV4 (A217S +1 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant 8 +9 more	GBenign/Likely benign
Select item 241388	NM_021625.5(TRPV4):c.396G>A (p.Pro132=)	TRPV4	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 5003	NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser)	TRPV4 (P19S)	Single nucleotide variant (missense variant)	Metatropic dysplasia +9 more	GBenign
Select item 195368	NM_021625.5(TRPV4):c.33G>T (p.Gly11=)	TRPV4	Single nucleotide variant (synonymous variant)	Brachyrachia (short spine dysplasia) +10 more	GBenign/Likely benign

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Items: 24