"Mendelics"[submitter] AND "TRPV4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137726	NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)	TRPV4 (E840K +4 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +10 more	GBenign/Likely benign
Select item 391933	NM_021625.5(TRPV4):c.1885G>A (p.Ala629Thr)	TRPV4 (A629T +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1446570	NM_021625.5(TRPV4):c.1675_1698del (p.Leu559_Leu566del)	TRPV4	Deletion (inframe_deletion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 126480	NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)	TRPV4 (A217S +1 more)	Single nucleotide variant (missense variant)	TRPV4-related condition +10 more	GBenign
Select item 155753	NM_021625.5(TRPV4):c.549G>C (p.Glu183Asp)	TRPV4 (E183D +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GBenign
Select item 837879	NM_021625.5(TRPV4):c.214C>T (p.Gln72Ter)	TRPV4 (Q38* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2C +2 more	GUncertain significance

ClinVar