Related gene-specific medical variations for Gene (Select 162514) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243215	NC_000017.10:g.(?_3419731)_(3424353_?)del	TRPV3	Deletion	not provided	GUncertain significance
Select item 2437343	NM_145068.4(TRPV3):c.1676G>A (p.Trp559Ter)	TRPV3 (W559*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 892231	NM_145068.4(TRPV3):c.*186G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 892230	NM_145068.4(TRPV3):c.*207T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GUncertain significance
Select item 892229	NM_145068.4(TRPV3):c.*276C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 892172	NM_145068.4(TRPV3):c.*1380T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 892171	NM_145068.4(TRPV3):c.*1500C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 892123	NM_145068.4(TRPV3):c.*2391C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 892122	NM_145068.4(TRPV3):c.*2432C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 892079	NM_145068.4(TRPV3):c.*3258G>A	TRPV3, SPATA22	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 891005	NM_145068.4(TRPV3):c.*552C>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 890938	NM_145068.4(TRPV3):c.*1767T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 890937	NM_145068.4(TRPV3):c.*1843C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 890936	NM_145068.4(TRPV3):c.*1950C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 890882	NM_145068.4(TRPV3):c.*2477T>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 890881	NM_145068.4(TRPV3):c.*2485G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 890880	NM_145068.4(TRPV3):c.*2604G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 890879	NM_145068.4(TRPV3):c.*2610C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 890435	NM_145068.4(TRPV3):c.*1043T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 890434	NM_145068.4(TRPV3):c.*1105T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 890381	NM_145068.4(TRPV3):c.*1968A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 890380	NM_145068.4(TRPV3):c.*2054A>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 890324	NM_145068.4(TRPV3):c.*2702A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 890323	NM_145068.4(TRPV3):c.*2757C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 890322	NM_145068.4(TRPV3):c.*2760A>C	TRPV3, SPATA22	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 890321	NM_145068.4(TRPV3):c.*2784G>T	TRPV3, SPATA22	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 888732	NM_145068.4(TRPV3):c.*1111G>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 888731	NM_145068.4(TRPV3):c.*1186C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 888730	NM_145068.4(TRPV3):c.*1272C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 888729	NM_145068.4(TRPV3):c.*1280G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 888728	NM_145068.4(TRPV3):c.*1328C>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 888620	NM_145068.4(TRPV3):c.*3114C>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 888619	NM_145068.4(TRPV3):c.*3155G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322746	NM_145068.4(TRPV3):c.*63C>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322745	NM_145068.4(TRPV3):c.*64TG[1]	TRPV3, SPATA22	Microsatellite (3 prime UTR variant +1 more)	Olmsted syndrome 1 +1 more	GBenign
Select item 322744	NM_145068.4(TRPV3):c.*74G>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322743	NM_145068.4(TRPV3):c.*84G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322742	NM_145068.4(TRPV3):c.*85A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Olmsted syndrome 1	GUncertain significance
Select item 322741	NM_145068.4(TRPV3):c.*88G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322740	NM_145068.4(TRPV3):c.*92A>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Olmsted syndrome 1	GUncertain significance
Select item 322739	NM_145068.4(TRPV3):c.*132G>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322738	NM_145068.4(TRPV3):c.*279G>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322737	NM_145068.4(TRPV3):c.*576A>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322736	NM_145068.4(TRPV3):c.*631A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Olmsted syndrome 1	GUncertain significance
Select item 322735	NM_145068.4(TRPV3):c.*656G>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 322734	NM_145068.4(TRPV3):c.*752dup	SPATA22, TRPV3	Duplication (3 prime UTR variant +1 more)	Olmsted syndrome 1	GUncertain significance
Select item 322733	NM_145068.4(TRPV3):c.*837A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322732	NM_145068.4(TRPV3):c.*842A>G	TRPV3, SPATA22	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322731	NM_145068.4(TRPV3):c.*902T>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322730	NM_145068.4(TRPV3):c.*940G>A	TRPV3, SPATA22	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322729	NM_145068.4(TRPV3):c.*949T>A	TRPV3, SPATA22	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322728	NM_145068.4(TRPV3):c.*1039T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322727	NM_145068.4(TRPV3):c.*1083A>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322726	NM_145068.4(TRPV3):c.*1100T>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GLikely benign
Select item 322725	NM_145068.4(TRPV3):c.*1110TG[1]	SPATA22, TRPV3	Microsatellite (3 prime UTR variant +1 more)	Olmsted syndrome 1	GUncertain significance
Select item 322724	NM_145068.4(TRPV3):c.*1218G>A	TRPV3, SPATA22	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322723	NM_145068.4(TRPV3):c.*1229G>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322722	NM_145068.4(TRPV3):c.*1424G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322721	NM_145068.4(TRPV3):c.*1485G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322720	NM_145068.4(TRPV3):c.*1533A>C	TRPV3, SPATA22	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322719	NM_145068.4(TRPV3):c.*1565T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322718	NM_145068.4(TRPV3):c.*1590T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322717	NM_145068.4(TRPV3):c.*1590del	SPATA22, TRPV3	Deletion (3 prime UTR variant +1 more)	Olmsted syndrome 1	GUncertain significance
Select item 322716	NM_145068.4(TRPV3):c.*1591G>C	TRPV3, SPATA22	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322715	NM_145068.4(TRPV3):c.*1591del	SPATA22, TRPV3	Deletion (3 prime UTR variant +1 more)	Olmsted syndrome 1	GBenign
Select item 322714	NM_145068.4(TRPV3):c.1591_1592insC	TRPV3, SPATA22	Insertion (3 prime UTR variant +1 more)	Olmsted syndrome 1 +1 more	GUncertain significance
Select item 322713	NM_145068.4(TRPV3):c.*1621del	SPATA22, TRPV3	Deletion (3 prime UTR variant +1 more)	Olmsted syndrome 1	GLikely benign
Select item 322712	NM_145068.4(TRPV3):c.*1625C>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322711	NM_145068.4(TRPV3):c.*1669G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322710	NM_145068.4(TRPV3):c.*1790G>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322709	NM_145068.4(TRPV3):c.*1841C>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 322708	NM_145068.4(TRPV3):c.*1940T>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Olmsted syndrome 1	GUncertain significance
Select item 322707	NM_145068.4(TRPV3):c.*2014A>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322706	NM_145068.4(TRPV3):c.*2019A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322705	NM_145068.4(TRPV3):c.*2054A>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322704	NM_145068.4(TRPV3):c.*2068A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322703	NM_145068.4(TRPV3):c.*2072A>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322702	NM_145068.4(TRPV3):c.*2087T>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322701	NM_145068.4(TRPV3):c.*2093C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322700	NM_145068.4(TRPV3):c.*2094G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322699	NM_145068.4(TRPV3):c.*2115G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322698	NM_145068.4(TRPV3):c.*2153A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322697	NM_145068.4(TRPV3):c.*2169C>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322696	NM_145068.4(TRPV3):c.*2272T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322695	NM_145068.4(TRPV3):c.*2296T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322694	NM_145068.4(TRPV3):c.*2352G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322693	NM_145068.4(TRPV3):c.*2365T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322692	NM_145068.4(TRPV3):c.*2437A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322691	NM_145068.4(TRPV3):c.*2490T>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322690	NM_145068.4(TRPV3):c.*2611G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322689	NM_145068.4(TRPV3):c.*2622G>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322688	NM_145068.4(TRPV3):c.*2671C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322687	NM_145068.4(TRPV3):c.*2729A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322686	NM_145068.4(TRPV3):c.*2783G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GBenign
Select item 322685	NM_145068.4(TRPV3):c.*2808C>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322684	NM_145068.4(TRPV3):c.*2895C>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322683	NM_145068.4(TRPV3):c.*3045G>T	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance
Select item 322682	NM_145068.4(TRPV3):c.*3051A>G	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322681	NM_145068.4(TRPV3):c.*3076A>C	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GBenign
Select item 322680	NM_145068.4(TRPV3):c.*3148G>A	SPATA22, TRPV3	Single nucleotide variant (3 prime UTR variant +1 more)	Isolated focal non-epidermolytic palmoplantar keratoderma	GUncertain significance

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