Indel | NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs) | PKP2 | Pathogenic/Likely pathogenic | 12 | 32949194 | 32949198 | CAGGA | ACTG | criteria provided, multiple submitters, no conflicts | ClinGen:CA011929 |
Deletion | NM_001005242.3(PKP2):c.2253del (p.Cys752fs) | PKP2 | Pathogenic | 12 | 32949147 | 32949147 | AG | A | criteria provided, single submitter | ClinGen:CA011978 |
single nucleotide variant | NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg) | PKP2 | Pathogenic | 12 | 32949146 | 32949146 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA011986,UniProtKB:Q99959#VAR_021151 |
Indel | NM_001005242.3(PKP2):c.2311_2316delinsGAAA (p.Asn771fs) | PKP2 | Likely pathogenic | 12 | 32949084 | 32949089 | GGTGTT | TTTC | criteria provided, single submitter | ClinGen:CA012023 |
single nucleotide variant | NM_001005242.3(PKP2):c.2357+1G>T | PKP2 | Pathogenic/Likely pathogenic | 12 | 32949042 | 32949042 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012097 |
single nucleotide variant | NM_001005242.3(PKP2):c.2357+1G>A | PKP2 | Pathogenic | 12 | 32949042 | 32949042 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA012089,OMIM:602861.0004 |
single nucleotide variant | NM_001005242.3(PKP2):c.2357+4A>C | PKP2 | Pathogenic | 12 | 32949039 | 32949039 | T | G | criteria provided, single submitter | ClinGen:CA16619514 |
Deletion | NM_001005242.3(PKP2):c.2377del (p.Ser793fs) | PKP2 | Pathogenic/Likely pathogenic | 12 | 32945646 | 32945646 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA012110 |
single nucleotide variant | NM_001005242.3(PKP2):c.2390C>T (p.Ser797Phe) | PKP2 | Likely pathogenic | 12 | 32945633 | 32945633 | G | A | criteria provided, single submitter | ClinGen:CA012120 |
single nucleotide variant | NM_001005242.3(PKP2):c.2399T>C (p.Leu800Pro) | PKP2 | Likely pathogenic | 12 | 32945624 | 32945624 | A | G | criteria provided, single submitter | ClinGen:CA012137 |