"Genome-Nilou Lab"[submitter] AND "TRPV3"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 322758	NM_145068.4(TRPV3):c.1923C>T (p.Asp641=)	TRPV3	Single nucleotide variant (synonymous variant)	Isolated focal non-epidermolytic palmoplantar keratoderma +2 more	GBenign
Select item 1262763	NM_145068.4(TRPV3):c.1066-46T>C	TRPV3	Single nucleotide variant (intron variant)	Isolated focal non-epidermolytic palmoplantar keratoderma +2 more	GBenign
Select item 1259700	NM_145068.4(TRPV3):c.1065+16G>T	TRPV3	Single nucleotide variant (intron variant)	Isolated focal non-epidermolytic palmoplantar keratoderma +2 more	GBenign
Select item 322784	NM_145068.4(TRPV3):c.936G>A (p.Thr312=)	TRPV3	Single nucleotide variant (synonymous variant)	Isolated focal non-epidermolytic palmoplantar keratoderma +2 more	GBenign
Select item 322788	NM_145068.4(TRPV3):c.558A>C (p.Ile186=)	TRPV3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 322794	NM_145068.4(TRPV3):c.349A>G (p.Arg117Gly)	TRPV3 (R117G)	Single nucleotide variant (missense variant)	Isolated focal non-epidermolytic palmoplantar keratoderma +2 more	GBenign
Select item 322795	NM_145068.4(TRPV3):c.270G>A (p.Gln90=)	TRPV3	Single nucleotide variant (synonymous variant)	Isolated focal non-epidermolytic palmoplantar keratoderma +2 more	GBenign
Select item 1283223	NM_145068.4(TRPV3):c.224+27T>C	TRPV3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 322799	NM_145068.4(TRPV3):c.73A>G (p.Ile25Val)	TRPV3 (I25V)	Single nucleotide variant (missense variant)	Isolated focal non-epidermolytic palmoplantar keratoderma +2 more	GBenign