"Ambry Genetics"[submitter] AND "PKP1"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3213982	NM_001005337.3(PKP1):c.127G>A (p.Glu43Lys)	PKP1 (E43K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 294800	NM_001005337.3(PKP1):c.136A>T (p.Met46Leu)	PKP1 (M46L)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency +1 more	GUncertain significance
Select item 2618025	NM_001005337.3(PKP1):c.151C>T (p.Arg51Trp)	PKP1 (R51W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213986	NM_001005337.3(PKP1):c.154C>A (p.Gln52Lys)	PKP1 (Q52K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213987	NM_001005337.3(PKP1):c.205T>A (p.Ser69Thr)	PKP1 (S69T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213988	NM_001005337.3(PKP1):c.206C>A (p.Ser69Tyr)	PKP1 (S69Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213989	NM_001005337.3(PKP1):c.272A>G (p.Lys91Arg)	PKP1 (K91R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212545	NM_001005337.3(PKP1):c.305C>T (p.Pro102Leu)	PKP1 (P102L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213990	NM_001005337.3(PKP1):c.344G>A (p.Arg115Lys)	PKP1 (R115K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213991	NM_001005337.3(PKP1):c.389A>G (p.Tyr130Cys)	PKP1 (Y130C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514510	NM_001005337.3(PKP1):c.415G>A (p.Gly139Ser)	PKP1 (G139S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 875910	NM_001005337.3(PKP1):c.453G>T (p.Lys151Asn)	PKP1 (K151N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2301673	NM_001005337.3(PKP1):c.591G>T (p.Lys197Asn)	PKP1 (K197N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296906	NM_001005337.3(PKP1):c.598C>T (p.Pro200Ser)	PKP1 (P200S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213992	NM_001005337.3(PKP1):c.674C>A (p.Ser225Tyr)	PKP1 (S225Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247424	NM_001005337.3(PKP1):c.779A>T (p.Lys260Met)	PKP1 (K260M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213993	NM_001005337.3(PKP1):c.791T>C (p.Ile264Thr)	PKP1 (I264T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213994	NM_001005337.3(PKP1):c.797C>T (p.Ala266Val)	PKP1 (A266V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392577	NM_001005337.3(PKP1):c.824A>T (p.Gln275Leu)	PKP1 (Q275L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229318	NM_001005337.3(PKP1):c.847G>A (p.Val283Ile)	PKP1 (V283I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2058562	NM_001005337.3(PKP1):c.883C>G (p.Leu295Val)	PKP1 (L295V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2481139	NM_001005337.3(PKP1):c.889C>G (p.Arg297Gly)	PKP1 (R297G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340741	NM_001005337.3(PKP1):c.907G>A (p.Val303Ile)	PKP1 (V303I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333850	NM_001005337.3(PKP1):c.919G>A (p.Ala307Thr)	PKP1 (A307T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602878	NM_001005337.3(PKP1):c.926G>A (p.Gly309Glu)	PKP1 (G309E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623205	NM_001005337.3(PKP1):c.935G>A (p.Arg312His)	PKP1 (R312H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368229	NM_001005337.3(PKP1):c.976C>T (p.Arg326Trp)	PKP1 (R326W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279707	NM_001005337.3(PKP1):c.1024G>A (p.Gly342Arg)	PKP1 (G342R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213980	NM_001005337.3(PKP1):c.1030G>A (p.Ala344Thr)	PKP1 (A344T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2286797	NM_001005337.3(PKP1):c.1033G>A (p.Glu345Lys)	PKP1 (E345K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338990	NM_001005337.3(PKP1):c.1160G>T (p.Cys387Phe)	PKP1 (C387F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615105	NM_001005337.3(PKP1):c.1189G>T (p.Val397Leu)	PKP1 (V397L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213981	NM_001005337.3(PKP1):c.1265C>A (p.Thr422Asn)	PKP1 (T422N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213983	NM_001005337.3(PKP1):c.1361G>C (p.Cys454Ser)	PKP1 (C454S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285168	NM_001005337.3(PKP1):c.1375C>T (p.His459Tyr)	PKP1 (H459Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515049	NM_001005337.3(PKP1):c.1390C>T (p.Arg464Cys)	PKP1 (R485C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557206	NM_001005337.3(PKP1):c.1414C>T (p.Arg472Cys)	PKP1 (R493C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464810	NM_001005337.3(PKP1):c.1420C>T (p.Arg474Cys)	PKP1 (R474C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396058	NM_001005337.3(PKP1):c.1421G>A (p.Arg474His)	PKP1 (R495H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476631	NM_001005337.3(PKP1):c.1447G>A (p.Ala483Thr)	PKP1 (A483T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3213985	NM_001005337.3(PKP1):c.1454C>G (p.Thr485Ser)	PKP1 (T485S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2083109	NM_001005337.3(PKP1):c.1507A>G (p.Asn503Asp)	PKP1 (N524D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2599177	NM_001005337.3(PKP1):c.1541C>T (p.Thr514Ile)	PKP1 (T514I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465487	NM_001005337.3(PKP1):c.1558G>A (p.Gly520Ser)	PKP1 (G541S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 875971	NM_001005337.3(PKP1):c.1742G>A (p.Arg581His)	PKP1 (R602H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2513254	NM_001005337.3(PKP1):c.1784C>G (p.Ala595Gly)	PKP1 (A595G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294743	NM_001005337.3(PKP1):c.1843G>T (p.Val615Leu)	PKP1 (V615L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460962	NM_001005337.3(PKP1):c.1856T>C (p.Val619Ala)	PKP1 (V619A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 294827	NM_001005337.3(PKP1):c.1934G>A (p.Arg645Lys)	PKP1 (R666K +1 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency +1 more	GUncertain significance
Select item 2482925	NM_001005337.3(PKP1):c.2116G>C (p.Asp706His)	PKP1 (D727H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 50