ClinVar for MedGen (Select 388032) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 877048	NM_001005337.3(PKP1):c.*1558C>T	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 877004	NM_001005337.3(PKP1):c.*713T>G	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 876947	NM_001005337.3(PKP1):c.2051G>A (p.Arg684Gln)	PKP1 (R705Q +1 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 876946	NM_001005337.3(PKP1):c.2015G>A (p.Arg672Gln)	PKP1 (R672Q +1 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 876945	NM_001005337.3(PKP1):c.1859C>T (p.Thr620Ile)	PKP1 (T641I +1 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
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 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 876297	NM_001005337.3(PKP1):c.*2805C>G	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 876155	NM_001005337.3(PKP1):c.*2591G>A	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 876096	NM_001005337.3(PKP1):c.*1443G>A	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 876095	NM_001005337.3(PKP1):c.*1203C>T	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 876033	NM_001005337.3(PKP1):c.*448T>C	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 875971	NM_001005337.3(PKP1):c.1742G>A (p.Arg581His)	PKP1 (R602H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 875970	NM_001005337.3(PKP1):c.1615A>G (p.Lys539Glu)	PKP1 (K539E +1 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 875969	NM_001005337.3(PKP1):c.1438G>A (p.Ala480Thr)	PKP1 (A501T +1 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 875968	NM_001005337.3(PKP1):c.1401C>T (p.Ala467=)	PKP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875967	NM_001005337.3(PKP1):c.1358A>G (p.Asn453Ser)	PKP1 (N453S +1 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	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 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 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 875197	NM_001005337.3(PKP1):c.*2501C>T	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 875196	NM_001005337.3(PKP1):c.*2460C>T	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 875195	NM_001005337.3(PKP1):c.*2408A>G	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 875137	NM_001005337.3(PKP1):c.*1132T>A	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 875136	NM_001005337.3(PKP1):c.*1064G>A	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 875135	NM_001005337.3(PKP1):c.*933A>G	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 875134	NM_001005337.3(PKP1):c.*896T>C	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GLikely benign
Select item 875045	NM_001005337.3(PKP1):c.1347+7G>A	PKP1	Single nucleotide variant (intron variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 875044	NM_001005337.3(PKP1):c.1326G>T (p.Ala442=)	PKP1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 875043	NM_001005337.3(PKP1):c.1258C>T (p.Arg420Cys)	PKP1 (R420C +1 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 875042	NM_001005337.3(PKP1):c.1200T>C (p.Pro400=)	PKP1	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 875041	NM_001005337.3(PKP1):c.1132C>T (p.Arg378Cys)	PKP1 (R378C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 874267	NM_001005337.3(PKP1):c.*2281C>T	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 874266	NM_001005337.3(PKP1):c.*1730G>A	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 874215	NM_001005337.3(PKP1):c.*894T>C	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 874214	NM_001005337.3(PKP1):c.*861A>G	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 874213	NM_001005337.3(PKP1):c.*786A>G	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GLikely benign
Select item 874212	NM_001005337.3(PKP1):c.*741G>A	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 874162	NM_001005337.3(PKP1):c.*221C>T	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	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 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 874055	NM_001005337.2(PKP1):c.-235G>T	PKP1	Single nucleotide variant	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 812570	NM_001005337.3(PKP1):c.1233-2A>G	PKP1	Single nucleotide variant (splice acceptor variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GPathogenic
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 812568	NM_001005337.3(PKP1):c.2021+1G>A	PKP1	Single nucleotide variant (splice donor variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GPathogenic
Select item 786994	NM_001005337.3(PKP1):c.294A>G (p.Ser98=)	PKP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 632097	NM_001005337.3(PKP1):c.1681-1G>A	PKP1	Single nucleotide variant (splice acceptor variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
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 369568	NM_004415.3(DSP):c.-281C>T	DSP, DSP-AS1	Single nucleotide variant	Epidermolysis bullosa simplex due to plakophilin deficiency +3 more	GLikely benign
Select item 357983	NM_004415.4(DSP):c.*681C>A	DSP	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 357982	NM_004415.4(DSP):c.*598G>T	DSP	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 357980	NM_004415.4(DSP):c.*386G>T	DSP	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 357979	NM_004415.4(DSP):c.*384C>A	DSP	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 357977	NM_004415.4(DSP):c.*305C>A	DSP	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 357976	NM_004415.4(DSP):c.*300C>A	DSP	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 357964	NM_004415.4(DSP):c.7548G>A (p.Arg2516=)	DSP	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex due to plakophilin deficiency +9 more	GBenign/Likely benign
Select item 357957	NM_004415.4(DSP):c.5283C>T (p.Asn1761=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 357954	NM_004415.4(DSP):c.4857G>C (p.Leu1619=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Woolly hair-skin fragility syndrome +4 more	GConflicting classifications of pathogenicity
Select item 357944	NM_004415.4(DSP):c.2404G>A (p.Asp802Asn)	DSP (D802N)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 357940	NM_004415.4(DSP):c.1469G>A (p.Arg490His)	DSP (R490H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 357934	NM_004415.4(DSP):c.-36C>A	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 357932	NM_004415.4(DSP):c.-179T>C	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 357931	NM_004415.4(DSP):c.-190G>T	DSP-AS1, DSP	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 357930	NM_004415.4(DSP):c.-228C>A	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 357929	NM_004415.3(DSP):c.-260A>G	DSP, DSP-AS1	Single nucleotide variant	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 294892	NM_001005337.3(PKP1):c.*2859G>A	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294891	NM_001005337.3(PKP1):c.*2858C>A	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294890	NM_001005337.3(PKP1):c.*2850C>A	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GBenign
Select item 294889	NM_001005337.3(PKP1):c.*2778C>T	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294888	NM_001005337.3(PKP1):c.*2752G>A	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GBenign
Select item 294887	NM_001005337.3(PKP1):c.*2737C>G	PKP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 294886	NM_001005337.3(PKP1):c.*2704A>G	PKP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 294885	NM_001005337.3(PKP1):c.*2623C>G	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294884	NM_001005337.3(PKP1):c.2569_2571C[5]ACCCTGACCC[1]	PKP1	Microsatellite (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GBenign
Select item 294883	NM_001005337.3(PKP1):c.2568_2569insA	PKP1	Insertion (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294882	NM_001005337.3(PKP1):c.*2559A>G	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294881	NM_001005337.3(PKP1):c.*2543C>A	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294880	NM_001005337.3(PKP1):c.*2542G>A	PKP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 294879	NM_001005337.3(PKP1):c.*2527G>A	PKP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 294878	NM_001005337.3(PKP1):c.*2505C>G	PKP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 294877	NM_001005337.3(PKP1):c.*2362C>T	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GBenign
Select item 294876	NM_001005337.3(PKP1):c.*1942A>C	PKP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 294875	NM_001005337.3(PKP1):c.*1884G>A	PKP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 294874	NM_001005337.3(PKP1):c.*1812G>A	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294873	NM_001005337.3(PKP1):c.*1716C>T	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294872	NM_001005337.3(PKP1):c.*1689C>A	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency +1 more	GBenign
Select item 294871	NM_001005337.3(PKP1):c.*1673T>C	PKP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 294870	NM_001005337.3(PKP1):c.*1643C>A	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294869	NM_001005337.3(PKP1):c.*1604C>T	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294868	NM_001005337.3(PKP1):c.*1565C>T	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294867	NM_001005337.3(PKP1):c.*1555C>T	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GLikely benign
Select item 294866	NM_001005337.3(PKP1):c.*1516T>C	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294865	NM_001005337.3(PKP1):c.*1498A>G	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294864	NM_001005337.3(PKP1):c.*1409C>T	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294863	NM_001005337.3(PKP1):c.*1305T>C	PKP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 294862	NM_001005337.3(PKP1):c.*1229C>T	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294861	NM_001005337.3(PKP1):c.*1197C>T	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GUncertain significance
Select item 294860	NM_001005337.3(PKP1):c.*1148C>T	PKP1	Single nucleotide variant (3 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency	GLikely benign

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