Related gene-specific medical variations for Gene (Select 59341) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244323	NC_000012.11:g.(?_110232124)_(110236727_?)del	TRPV4	Deletion	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 3238811	NM_021625.5(TRPV4):c.856G>A (p.Glu286Lys)	TRPV4 (E239K +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant 8	GLikely pathogenic
Select item 3068144	NM_021625.5(TRPV4):c.2199G>A (p.Trp733Ter)	TRPV4 (W626* +4 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2C	GLikely pathogenic
Select item 3065779	NM_021625.5(TRPV4):c.476C>A (p.Ser159Tyr)	TRPV4 (S125Y +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 2690281	NM_021625.5(TRPV4):c.847T>C (p.Tyr283His)	TRPV4 (Y249H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2442012	NM_021625.5(TRPV4):c.1344G>T (p.Glu448Asp)	TRPV4 (E341D +4 more)	Single nucleotide variant (missense variant)	Scapuloperoneal spinal muscular atrophy	GUncertain significance
Select item 2437348	NM_021625.5(TRPV4):c.1405G>A (p.Val469Ile)	TRPV4 (V362I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437347	NM_021625.5(TRPV4):c.317C>A (p.Ser106Ter)	TRPV4 (S106* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2437345	NM_021625.5(TRPV4):c.559+1G>A	TRPV4	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2437344	NM_021625.5(TRPV4):c.469A>G (p.Ile157Val)	TRPV4 (I123V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428738	NM_021625.5(TRPV4):c.528C>T (p.His176=)	TRPV4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1256302	NM_021625.5(TRPV4):c.2256G>A (p.Leu752=)	TRPV4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1224354	NM_021625.5(TRPV4):c.1780C>A (p.Arg594Ser)	TRPV4 (R487S +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1224326	NM_021625.5(TRPV4):c.2152A>C (p.Met718Leu)	TRPV4 (M611L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994833	NM_021625.5(TRPV4):c.24C>A (p.Pro8=)	TRPV4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 931737	NM_021625.5(TRPV4):c.-31-3C>T	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 931354	NM_021625.5(TRPV4):c.386+1G>A	TRPV4	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 931140	NM_021625.5(TRPV4):c.1178A>T (p.Glu393Val)	TRPV4 (E346V +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
Select item 931090	NM_021625.5(TRPV4):c.1771T>A (p.Tyr591Asn)	TRPV4 (Y591N +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GLikely pathogenic
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 694836	NM_021625.5(TRPV4):c.409G>C (p.Ala137Pro)	TRPV4 (A103P +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 694835	NM_021625.5(TRPV4):c.1529G>A (p.Arg510Gln)	TRPV4 (R450Q +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 514316	NM_021625.5(TRPV4):c.-51G>A	MIR4497, TRPV4	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 478913	NM_021625.5(TRPV4):c.2486T>A (p.Val829Glu)	TRPV4 (V829E +4 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 440777	NM_021625.5(TRPV4):c.2481_2484del (p.Arg828fs)	TRPV4 (R781fs +4 more)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 261419	NM_021625.5(TRPV4):c.386+26G>C	TRPV4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 155732	NM_021625.5(TRPV4):c.1570T>G (p.Phe524Val)	TRPV4 (F490V +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign

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Links from Gene

Items: 29