"Blueprint Genetics"[submitter] AND "PKP2"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6757	NM_001005242.3(PKP2):c.2357+1G>A	PKP2	Single nucleotide variant (splice donor variant +1 more)	Cardiovascular phenotype +7 more	GPathogenic
Select item 222765	NM_001005242.3(PKP2):c.2350G>A (p.Gly784Ser)	PKP2 (G828S +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GLikely benign
Select item 188664	NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val)	PKP2 (I822V +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GUncertain significance
Select item 45063	NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)	PKP2 (H689fs +1 more)	Indel (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy +5 more	GPathogenic
Select item 6756	NM_001005242.3(PKP2):c.2014-1G>C	PKP2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GPathogenic
Select item 45056	NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)	PKP2 (R695C +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GUncertain significance
Select item 45055	NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)	PKP2 (S688P +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 180474	NM_001005242.3(PKP2):c.1842A>G (p.Gln614=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9 +3 more	GBenign/Likely benign
Select item 308507	NM_001005242.3(PKP2):c.1840-5G>C	PKP2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 36680	NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)	PKP2 (W538* +1 more)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 45035	NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser)	PKP2 (I531S +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GBenign/Likely benign
Select item 45032	NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)	PKP2 (T526A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 45022	NM_001005242.3(PKP2):c.1378+1G>C	PKP2	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 201979	NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp)	PKP2 (R388W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 45007	NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro)	PKP2 (A372P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 180473	NM_001005242.3(PKP2):c.1079T>C (p.Leu360Pro)	PKP2 (L360P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 180472	NM_001005242.3(PKP2):c.1045A>G (p.Met349Val)	PKP2 (M349V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 222766	NM_001005242.3(PKP2):c.1034+1G>A	PKP2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely pathogenic
Select item 45003	NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala)	PKP2 (T338A)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 222764	NM_001005242.3(PKP2):c.980G>T (p.Gly327Val)	PKP2 (G327V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GConflicting classifications of pathogenicity
Select item 201978	NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys)	PKP2 (G322C)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 222767	NM_001005242.3(PKP2):c.926_928dup (p.Ala309dup)	PKP2	Duplication (inframe_insertion)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 45077	NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe)	PKP2 (S140F)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 180471	NM_001005242.3(PKP2):c.176A>T (p.Gln59Leu)	PKP2 (Q59L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GConflicting classifications of pathogenicity
Select item 45028	NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)	PKP2 (T50fs)	Deletion (frameshift variant)	Cardiovascular phenotype +5 more	GPathogenic

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Items: 25