"GeneDx"[submitter] AND "PKP1"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 294795	NM_001005337.3(PKP1):c.-130A>T	PKP1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
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 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 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 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 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 294807	NM_001005337.3(PKP1):c.482G>A (p.Cys161Tyr)	PKP1 (C161Y)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 3372767	NM_001005337.3(PKP1):c.691G>T (p.Ala231Ser)	PKP1 (A231S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1234668	NM_001005337.3(PKP1):c.702-282G>A	PKP1	Single nucleotide variant (intron 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 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 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 256862	NM_001005337.3(PKP1):c.918C>T (p.Ala306=)	PKP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1296158	NM_001005337.3(PKP1):c.1055-217T>C	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182691	NM_001005337.3(PKP1):c.1232+84G>A	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278997	NM_001005337.3(PKP1):c.1232+109C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266204	NM_001005337.3(PKP1):c.1233-727G>A	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260755	NM_001005337.3(PKP1):c.1233-497A>C	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262820	NM_001005337.3(PKP1):c.1233-440G>A	PKP1 (G415D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1296333	NM_001005337.3(PKP1):c.1233-220G>A	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326528	NM_001005337.3(PKP1):c.1233-80C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 712954	NM_001005337.3(PKP1):c.1333C>T (p.Arg445Cys)	PKP1 (R445C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1231931	NM_001005337.3(PKP1):c.1347+36G>A	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295908	NM_001005337.3(PKP1):c.1347+137T>C	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269504	NM_001005337.3(PKP1):c.1347+182C>A	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258088	NM_001005337.3(PKP1):c.1347+194C>A	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228663	NM_001005337.3(PKP1):c.1348-316T>A	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225772	NM_001005337.3(PKP1):c.1348-138T>G	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271245	NM_001005337.3(PKP1):c.1348-121C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273769	NM_001005337.3(PKP1):c.1348-40C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270139	NM_001005337.3(PKP1):c.1503+22C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296400	NM_001005337.3(PKP1):c.1503+290G>A	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241031	NM_001005337.3(PKP1):c.1504-296T>C	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179741	NM_001005337.3(PKP1):c.1504-124G>A	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296212	NM_001005337.3(PKP1):c.1504-105T>C	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259550	NM_001005337.3(PKP1):c.1504-49C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231739	NM_001005337.3(PKP1):c.1504-31T>C	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273028	NM_001005337.3(PKP1):c.1680+156G>T	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260428	NM_001005337.3(PKP1):c.1680+171C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227352	NM_001005337.3(PKP1):c.1681-302C>A	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246403	NM_001005337.3(PKP1):c.1835-99C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263940	NM_001005337.3(PKP1):c.1835-84G>A	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 429879	NM_001005337.3(PKP1):c.1840C>T (p.Gln614Ter)	PKP1 (Q614* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1272186	NM_001005337.3(PKP1):c.2021+23G>A	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223938	NM_001005337.3(PKP1):c.2021+163C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241055	NM_001005337.3(PKP1):c.2021+234C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274538	NM_001005337.3(PKP1):c.2022-290T>C	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267445	NM_001005337.3(PKP1):c.2022-260G>A	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 390680	NM_001005337.3(PKP1):c.2022-11C>T	PKP1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1314544	NM_001005337.3(PKP1):c.2092G>T (p.Gly698Cys)	PKP1 (G698C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1258150	NM_001005337.3(PKP1):c.2106+141C>T	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243717	NM_001005337.3(PKP1):c.2107-223C>A	PKP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 3361404	NM_001005337.3(PKP1):c.1342G>A (p.Asp448Asn)	PKP1 (D448N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 65