C1853710[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4998	NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)	TRPV4 (P692L +3 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
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 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 931322	NM_021625.5(TRPV4):c.1075G>A (p.Asp359Asn)	TRPV4 (D359N +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance
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 684495	NM_021625.5(TRPV4):c.617G>A (p.Arg206His)	TRPV4 (R206H +1 more)	Single nucleotide variant (missense 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 931737	NM_021625.5(TRPV4):c.-31-3C>T	TRPV4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2C	GUncertain significance