"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522207	NM_001005242.3(PKP2):c.2168-11dup	PKP2	Duplication (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GBenign/Likely benign
Select item 862118	NM_001005242.3(PKP2):c.1663C>A (p.Pro555Thr)	PKP2 (P555T +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 931867	NM_001005242.3(PKP2):c.502T>C (p.Tyr168His)	PKP2 (Y168H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GConflicting classifications of pathogenicity
Select item 201972	NM_001005242.3(PKP2):c.466C>G (p.Pro156Ala)	PKP2 (P156A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 196395	NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter)	PKP2 (W123*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 45075	NM_001005242.3(PKP2):c.269_272del (p.Leu90fs)	PKP2 (L90fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely pathogenic
Select item 452533	NM_001005242.3(PKP2):c.155dup (p.Ser53fs)	PKP2 (S53fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9 +2 more	GLikely pathogenic
Select item 45028	NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)	PKP2 (T50fs)	Deletion (frameshift variant)	Cardiovascular phenotype +5 more	GPathogenic