"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 216733	NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr)	TRPV4 (A869T +4 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal dominant 8 +8 more	GConflicting classifications of pathogenicity
Select item 857016	NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys)	TRPV4 (R745C +4 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GUncertain significance
Select item 137726	NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)	TRPV4 (E840K +4 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +10 more	GBenign/Likely benign
Select item 261418	NM_021625.5(TRPV4):c.2459-9T>G	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +9 more	GBenign
Select item 219845	NM_021625.5(TRPV4):c.2433G>C (p.Ser811=)	TRPV4	Single nucleotide variant (synonymous variant)	Scapuloperoneal spinal muscular atrophy +10 more	GBenign/Likely benign
Select item 1702505	NM_021625.5(TRPV4):c.2421T>G (p.Tyr807Ter)	TRPV4 (Y700* +4 more)	Single nucleotide variant (nonsense)	Connective tissue disorder	GUncertain significance
Select item 499138	NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)	TRPV4	Single nucleotide variant (synonymous variant)	Scapuloperoneal spinal muscular atrophy +9 more	GConflicting classifications of pathogenicity
Select item 1702504	NM_021625.5(TRPV4):c.2146G>A (p.Ala716Thr)	TRPV4 (A609T +4 more)	Single nucleotide variant (missense variant)	Connective tissue disorder	GLikely pathogenic
Select item 1702503	NM_021625.5(TRPV4):c.2142C>T (p.Leu714=)	TRPV4	Single nucleotide variant (synonymous variant)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 418525	NM_021625.5(TRPV4):c.1913C>T (p.Pro638Leu)	TRPV4 (P638L +4 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 261415	NM_021625.5(TRPV4):c.1744C>T (p.Leu582=)	TRPV4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +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)	Charcot-Marie-Tooth disease +10 more	GBenign
Select item 193925	NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile)	TRPV4 (V562I +4 more)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
Select item 955652	NM_021625.5(TRPV4):c.1570TTC[2] (p.Phe526del)	TRPV4 (F479del +4 more)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GUncertain significance
Select item 697017	NM_021625.5(TRPV4):c.1422C>T (p.Asn474=)	TRPV4	Single nucleotide variant (synonymous variant)	Connective tissue disorder +2 more	GLikely benign
Select item 698008	NM_021625.5(TRPV4):c.1311G>C (p.Leu437=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder +1 more	GConflicting classifications of pathogenicity
Select item 215532	NM_021625.5(TRPV4):c.1308C>T (p.Ile436=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	Spondylometaphyseal dysplasia, Kozlowski type +9 more	GBenign/Likely benign
Select item 198246	NM_021625.5(TRPV4):c.854-4G>A	TRPV4	Single nucleotide variant (intron variant)	Scapuloperoneal spinal muscular atrophy +10 more	GBenign/Likely benign
Select item 307136	NM_021625.5(TRPV4):c.854-5C>T	TRPV4	Single nucleotide variant (intron variant)	Connective tissue disorder +14 more	GBenign/Likely benign
Select item 220190	NM_021625.5(TRPV4):c.810G>A (p.Gly270=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease +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)	TRPV4-related disorder +10 more	GBenign
Select item 415541	NM_021625.5(TRPV4):c.300G>A (p.Lys100=)	TRPV4	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 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)	Charcot-Marie-Tooth disease +8 more	GConflicting classifications of pathogenicity
Select item 1702502	NM_021625.5(TRPV4):c.105C>T (p.Ser35=)	TRPV4	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder	GUncertain significance
Select item 5003	NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser)	TRPV4 (P19S)	Single nucleotide variant (missense variant)	Connective tissue disorder +9 more	GBenign
Select item 195368	NM_021625.5(TRPV4):c.33G>T (p.Gly11=)	TRPV4	Single nucleotide variant (synonymous variant)	not provided +10 more	GBenign/Likely benign

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Items: 26