5317[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 57818	GRCh38/hg38 1q32.1(chr1:201226425-202014204)x3	CSRP1, CSRP1-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 1272495	NC_000001.11:g.201283337C>A	PKP1	Single nucleotide variant	not provided	GBenign
Select item 874055	NM_001005337.2(PKP1):c.-235G>T	PKP1	Single nucleotide variant	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294795	NM_001005337.3(PKP1):c.-130A>T	PKP1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 294796	NM_001005337.3(PKP1):c.-116C>G	PKP1	Single nucleotide variant (5 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GLikely benign
Select item 294797	NM_001005337.3(PKP1):c.-96G>A	PKP1	Single nucleotide variant (5 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294798	NM_001005337.3(PKP1):c.-86C>A	PKP1	Single nucleotide variant (5 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GBenign
Select item 294799	NM_001005337.3(PKP1):c.15G>T (p.Pro5=)	PKP1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 256861	NM_001005337.3(PKP1):c.36C>T (p.Tyr12=)	PKP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 2984291	NM_001005337.3(PKP1):c.199C>A (p.Arg67=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3059615	NM_001005337.3(PKP1):c.202+7G>C	PKP1	Single nucleotide variant (intron variant)	PKP1-related disorder	GLikely benign
Select item 2173779	NM_001005337.3(PKP1):c.202+10C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222960	NM_001005337.3(PKP1):c.202+87C>G	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272211	NM_001005337.3(PKP1):c.202+249A>G	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262559	NM_001005337.3(PKP1):c.203-315G>T	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275145	NM_001005337.3(PKP1):c.203-144C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1339041	NM_001005337.3(PKP1):c.203-1G>C	PKP1	Single nucleotide variant (splice acceptor variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GLikely pathogenic
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 294801	NM_001005337.3(PKP1):c.241G>A (p.Gly81Arg)	PKP1 (G81R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1049143	NM_001005337.3(PKP1):c.242G>A (p.Gly81Glu)	PKP1 (G81E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 294802	NM_001005337.3(PKP1):c.263A>G (p.Tyr88Cys)	PKP1 (Y88C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency +1 more	GConflicting classifications of pathogenicity
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 786994	NM_001005337.3(PKP1):c.294A>G (p.Ser98=)	PKP1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex due to plakophilin deficiency +1 more	GBenign/Likely benign
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 1952889	NM_001005337.3(PKP1):c.306+11del	PKP1	Deletion (intron variant)	not provided	GLikely benign
Select item 1297936	NM_001005337.3(PKP1):c.306+157C>G	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276660	NM_001005337.3(PKP1):c.307-127C>G	PKP1	Single nucleotide variant (intron 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 3213990	NM_001005337.3(PKP1):c.344G>A (p.Arg115Lys)	PKP1 (R115K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 294803	NM_001005337.3(PKP1):c.346C>T (p.Arg116Cys)	PKP1 (R116C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294804	NM_001005337.3(PKP1):c.347G>A (p.Arg116His)	PKP1 (R116H)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency +1 more	GBenign
Select item 2777794	NM_001005337.3(PKP1):c.375C>T (p.Asn125=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 294805	NM_001005337.3(PKP1):c.378G>C (p.Trp126Cys)	PKP1 (W126C)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 875908	NM_001005337.3(PKP1):c.383G>A (p.Arg128Gln)	PKP1 (R128Q)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	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 875909	NM_001005337.3(PKP1):c.417C>T (p.Gly139=)	PKP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 294806	NM_001005337.3(PKP1):c.418G>A (p.Ala140Thr)	PKP1 (A140T)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency +1 more	GLikely benign
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 2069933	NM_001005337.3(PKP1):c.456G>A (p.Ala152=)	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 294807	NM_001005337.3(PKP1):c.482G>A (p.Cys161Tyr)	PKP1 (C161Y)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 730853	NM_001005337.3(PKP1):c.543G>A (p.Gln181=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730854	NM_001005337.3(PKP1):c.544A>C (p.Asn182His)	PKP1 (N182H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 294808	NM_001005337.3(PKP1):c.586A>G (p.Ile196Val)	PKP1 (I196V)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency +1 more	GBenign
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 2071772	NM_001005337.3(PKP1):c.604C>T (p.Arg202Cys)	PKP1 (R202C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 294809	NM_001005337.3(PKP1):c.605G>A (p.Arg202His)	PKP1 (R202H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 777982	NM_001005337.3(PKP1):c.609G>A (p.Pro203=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1539765	NM_001005337.3(PKP1):c.701+19G>A	PKP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234668	NM_001005337.3(PKP1):c.702-282G>A	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2722373	NM_001005337.3(PKP1):c.720C>T (p.Ile240=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 294810	NM_001005337.3(PKP1):c.733C>T (p.Leu245=)	PKP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 876903	NM_001005337.3(PKP1):c.750T>C (p.Ala250=)	PKP1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	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 1622287	NM_001005337.3(PKP1):c.780= (p.Lys260=)	PKP1	Variation (no sequence alteration)	not provided	GBenign
Select item 775638	NM_001005337.3(PKP1):c.780G>A (p.Lys260=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 876904	NM_001005337.3(PKP1):c.790A>C (p.Ile264Leu)	PKP1 (I264L)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	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 294811	NM_001005337.3(PKP1):c.819C>T (p.Cys273=)	PKP1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294812	NM_001005337.3(PKP1):c.822C>G (p.Phe274Leu)	PKP1 (F274L)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	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 2699740	NM_001005337.3(PKP1):c.826G>T (p.Asp276Tyr)	PKP1 (D276Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 495106	NM_001005337.3(PKP1):c.841C>T (p.Gln281Ter)	PKP1 (Q281*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex due to plakophilin deficiency	GLikely pathogenic
Select item 1239621	NM_001005337.3(PKP1):c.846+84A>G	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262504	NM_001005337.3(PKP1):c.846+160A>G	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248800	NM_001005337.3(PKP1):c.847-76del	PKP1	Deletion (intron variant)	not provided	GBenign
Select item 1232204	NM_001005337.3(PKP1):c.847-72C>G	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249033	NM_001005337.3(PKP1):c.847-22C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2101860	NM_001005337.3(PKP1):c.883C>T (p.Leu295Phe)	PKP1 (L295F)	Single nucleotide variant (missense variant)	not provided	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 812569	NM_001005337.3(PKP1):c.889del (p.Arg297fs)	PKP1 (R297fs)	Deletion (frameshift variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GPathogenic
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 294813	NM_001005337.3(PKP1):c.899A>C (p.Asn300Thr)	PKP1 (N300T)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	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 2340741	NM_001005337.3(PKP1):c.907G>A (p.Val303Ile)	PKP1 (V303I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 7603	NM_001005337.3(PKP1):c.910C>T (p.Gln304Ter)	PKP1 (Q304*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa simplex due to plakophilin deficiency	GPathogenic
Select item 256862	NM_001005337.3(PKP1):c.918C>T (p.Ala306=)	PKP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 874107	NM_001005337.3(PKP1):c.919G>T (p.Ala307Ser)	PKP1 (A307S)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	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 874108	NM_001005337.3(PKP1):c.945G>A (p.Val315=)	PKP1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	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 2056931	NM_001005337.3(PKP1):c.981G>A (p.Arg327=)	PKP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 294814	NM_001005337.3(PKP1):c.995G>A (p.Arg332His)	PKP1 (R332H)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294815	NM_001005337.3(PKP1):c.996C>T (p.Arg332=)	PKP1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294816	NM_001005337.3(PKP1):c.1008C>T (p.Ser336=)	PKP1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex due to plakophilin deficiency +1 more	GBenign/Likely benign

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