ClinVar for MedGen (Select 1778121) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1283223	NM_145068.4(TRPV3):c.224+27T>C	TRPV3	Single nucleotide variant (intron variant)	not provided +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 803297	NM_145068.4(TRPV3):c.1703G>T (p.Gly568Val)	TRPV3 (G568V)	Single nucleotide variant (missense variant)	Olmsted syndrome 1	GPathogenic
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
Select item 322796	NM_145068.4(TRPV3):c.224+8C>T	TRPV3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
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 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 322789	NM_145068.4(TRPV3):c.501G>A (p.Thr167=)	TRPV3	Single nucleotide variant (synonymous variant)	Olmsted syndrome 1	GUncertain significance
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 322786	NM_145068.4(TRPV3):c.615C>T (p.Asn205=)	TRPV3	Single nucleotide variant (synonymous variant)	Olmsted syndrome 1	GUncertain significance
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 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 322753	NM_145068.4(TRPV3):c.2321C>T (p.Thr774Ile)	TRPV3 (T774I +1 more)	Single nucleotide variant (missense variant)	Isolated focal non-epidermolytic palmoplantar keratoderma +2 more	GBenign/Likely benign
Select item 322750	NM_145068.4(TRPV3):c.*25dup	TRPV3	Duplication (3 prime UTR variant)	Olmsted syndrome 1	GLikely benign
Select item 322749	NM_145068.4(TRPV3):c.*32C>T	TRPV3	Single nucleotide variant (3 prime UTR variant)	Olmsted syndrome 1	GUncertain significance
Select item 322748	NM_145068.4(TRPV3):c.*56dup	TRPV3	Duplication (3 prime UTR variant)	Olmsted syndrome 1	GLikely benign
Select item 322745	NM_145068.4(TRPV3):c.*64TG[1]	SPATA22, TRPV3	Microsatellite (3 prime UTR variant +1 more)	Olmsted syndrome 1 +1 more	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 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 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 322734	NM_145068.4(TRPV3):c.*752dup	SPATA22, TRPV3	Duplication (3 prime UTR variant +1 more)	Olmsted syndrome 1	GUncertain significance
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 322717	NM_145068.4(TRPV3):c.*1590del	SPATA22, TRPV3	Deletion (3 prime UTR variant +1 more)	Olmsted syndrome 1	GUncertain significance
Select item 322715	NM_145068.4(TRPV3):c.*1591del	TRPV3, SPATA22	Deletion (3 prime UTR variant +1 more)	Olmsted syndrome 1	GBenign
Select item 322714	NM_145068.4(TRPV3):c.1591_1592insC	SPATA22, TRPV3	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 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 322673	NM_145068.4(TRPV3):c.*3302TG[5]	SPATA22, TRPV3	Microsatellite (3 prime UTR variant +1 more)	Olmsted syndrome 1	GUncertain significance
Select item 225504	NM_145068.4(TRPV3):c.881C>A (p.Ser294Ter)	TRPV3 (S294*)	Single nucleotide variant (nonsense)	Olmsted syndrome 1	GUncertain significance
Select item 192256	NM_145068.4(TRPV3):c.2017C>T (p.Leu673Phe)	TRPV3 (L673F)	Single nucleotide variant (missense variant)	Isolated focal non-epidermolytic palmoplantar keratoderma +1 more	GLikely pathogenic
Select item 30638	NM_145068.4(TRPV3):c.2074T>G (p.Trp692Gly)	TRPV3 (W692G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 30637	NM_145068.4(TRPV3):c.1717G>T (p.Gly573Cys)	TRPV3 (G573C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 30636	NM_145068.4(TRPV3):c.1717G>A (p.Gly573Ser)	TRPV3 (G573S)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 34