"Molecular Diagnostics Lab, Nemours Children's Health, Delaware"[submi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 433145	NM_021625.5(TRPV4):c.2399G>A (p.Gly800Asp)	TRPV4 (G800D +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 4998	NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)	TRPV4 (P692L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic
Select item 4994	NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)	TRPV4 (R534H +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 30473	NM_021625.5(TRPV4):c.947G>A (p.Arg316His)	TRPV4 (R316H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GPathogenic/Likely pathogenic
Select item 5000	NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	TRPV4 (R269H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +14 more	GPathogenic/Likely pathogenic

ClinVar