ClinVar for Gene (Select 5317) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354741	NM_001005337.3(PKP1):c.1779C>T (p.Ser593=)	PKP1	Single nucleotide variant (synonymous variant)	PKP1-related disorder	GLikely benign
Select item 3307092	NM_001005337.3(PKP1):c.1283G>A (p.Gly428Glu)	PKP1 (G449E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307091	NM_001005337.3(PKP1):c.574G>C (p.Gly192Arg)	PKP1 (G192R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307090	NM_001005337.3(PKP1):c.1446C>G (p.Asn482Lys)	PKP1 (N482K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307089	NM_001005337.3(PKP1):c.1264A>G (p.Thr422Ala)	PKP1 (T422A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3307088	NM_001005337.3(PKP1):c.1326G>A (p.Ala442=)	PKP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
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 3213993	NM_001005337.3(PKP1):c.791T>C (p.Ile264Thr)	PKP1 (I264T)	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 3213991	NM_001005337.3(PKP1):c.389A>G (p.Tyr130Cys)	PKP1 (Y130C)	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 3213989	NM_001005337.3(PKP1):c.272A>G (p.Lys91Arg)	PKP1 (K91R)	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 3213987	NM_001005337.3(PKP1):c.205T>A (p.Ser69Thr)	PKP1 (S69T)	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 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 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 3213982	NM_001005337.3(PKP1):c.127G>A (p.Glu43Lys)	PKP1 (E43K)	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 3213980	NM_001005337.3(PKP1):c.1030G>A (p.Ala344Thr)	PKP1 (A344T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 3059615	NM_001005337.3(PKP1):c.202+7G>C	PKP1	Single nucleotide variant (intron variant)	PKP1-related disorder	GLikely benign
Select item 3052536	NM_001005337.3(PKP1):c.1586G>A (p.Arg529His)	PKP1 (R529H +1 more)	Single nucleotide variant (missense variant)	PKP1-related disorder	GLikely benign
Select item 3037845	NM_001005337.3(PKP1):c.1233-413C>A	PKP1 (P424Q)	Single nucleotide variant (missense variant +1 more)	PKP1-related disorder	GBenign
Select item 2996269	NM_001005337.3(PKP1):c.1059G>T (p.Leu353=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987406	NM_001005337.3(PKP1):c.1406T>C (p.Val469Ala)	PKP1 (V469A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984291	NM_001005337.3(PKP1):c.199C>A (p.Arg67=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970956	NM_001005337.3(PKP1):c.2022-18C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965595	NM_001005337.3(PKP1):c.1347+13C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965312	NM_001005337.3(PKP1):c.1233-16C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919666	NM_001005337.3(PKP1):c.1245G>A (p.Ser415=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900777	NM_001005337.3(PKP1):c.1374G>A (p.Leu458=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893020	NM_001005337.3(PKP1):c.1239G>A (p.Leu413=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887236	NM_001005337.3(PKP1):c.1401C>G (p.Ala467=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2850877	NM_001005337.3(PKP1):c.2022-8C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826093	NM_001005337.3(PKP1):c.1055-16G>T	PKP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777794	NM_001005337.3(PKP1):c.375C>T (p.Asn125=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722373	NM_001005337.3(PKP1):c.720C>T (p.Ile240=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2719855	NM_001005337.3(PKP1):c.307-5G>T	PKP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2699740	NM_001005337.3(PKP1):c.826G>T (p.Asp276Tyr)	PKP1 (D276Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639781	NM_001005337.3(PKP1):c.1491C>T (p.Ser497=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639780	NM_001005337.3(PKP1):c.1248C>T (p.Ala416=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639779	NM_001005337.3(PKP1):c.1173C>T (p.Ser391=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639778	NM_001005337.3(PKP1):c.1032C>G (p.Ala344=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639777	NM_001005337.3(PKP1):c.906C>T (p.Asn302=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2618025	NM_001005337.3(PKP1):c.151C>T (p.Arg51Trp)	PKP1 (R51W)	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 2602878	NM_001005337.3(PKP1):c.926G>A (p.Gly309Glu)	PKP1 (G309E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 2514510	NM_001005337.3(PKP1):c.415G>A (p.Gly139Ser)	PKP1 (G139S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2482925	NM_001005337.3(PKP1):c.2116G>C (p.Asp706His)	PKP1 (D727H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 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 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	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 2392577	NM_001005337.3(PKP1):c.824A>T (p.Gln275Leu)	PKP1 (Q275L)	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 2340741	NM_001005337.3(PKP1):c.907G>A (p.Val303Ile)	PKP1 (V303I)	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 2333850	NM_001005337.3(PKP1):c.919G>A (p.Ala307Thr)	PKP1 (A307T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2286797	NM_001005337.3(PKP1):c.1033G>A (p.Glu345Lys)	PKP1 (E345K)	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 2279707	NM_001005337.3(PKP1):c.1024G>A (p.Gly342Arg)	PKP1 (G342R)	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 2229318	NM_001005337.3(PKP1):c.847G>A (p.Val283Ile)	PKP1 (V283I)	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 2179892	NM_001005337.3(PKP1):c.2038G>A (p.Ala680Thr)	PKP1 (A701T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173779	NM_001005337.3(PKP1):c.202+10C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2170461	NM_001005337.3(PKP1):c.1950G>A (p.Ser650=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170005	NM_001005337.3(PKP1):c.475C>A (p.Leu159Ile)	PKP1 (L159I)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2101860	NM_001005337.3(PKP1):c.883C>T (p.Leu295Phe)	PKP1 (L295F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088319	NM_001005337.3(PKP1):c.1609A>G (p.Lys537Glu)	PKP1 (K537E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083109	NM_001005337.3(PKP1):c.1507A>G (p.Asn503Asp)	PKP1 (N524D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2071772	NM_001005337.3(PKP1):c.604C>T (p.Arg202Cys)	PKP1 (R202C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069933	NM_001005337.3(PKP1):c.456G>A (p.Ala152=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2056931	NM_001005337.3(PKP1):c.981G>A (p.Arg327=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052180	NM_001005337.3(PKP1):c.1334G>A (p.Arg445His)	PKP1 (R466H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991450	NM_001005337.3(PKP1):c.1504-19A>G	PKP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961669	NM_001005337.3(PKP1):c.1233-6C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957326	NM_001005337.3(PKP1):c.1321G>A (p.Val441Ile)	PKP1 (V462I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952889	NM_001005337.3(PKP1):c.306+11del	PKP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1915898	NM_001005337.3(PKP1):c.1800C>T (p.Asn600=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903030	NM_001005337.3(PKP1):c.1054+20G>A	PKP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897326	NM_001005337.3(PKP1):c.1835-13G>A	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic

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