Deletion | NM_001005242.3(PKP2):c.2422del (p.Glu808fs) | PKP2 | Pathogenic | 12 | 32945601 | 32945601 | TC | T | criteria provided, single submitter | ClinGen:CA604480594 |
Deletion | NM_001005242.3(PKP2):c.2419del (p.Thr807fs) | PKP2 | Likely pathogenic | 12 | 32945604 | 32945604 | GT | G | criteria provided, single submitter | ClinGen:CA012158 |
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 |
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 |
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.2357+4A>C | PKP2 | Pathogenic | 12 | 32949039 | 32949039 | T | G | criteria provided, single submitter | ClinGen:CA16619514 |
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+1G>T | PKP2 | Pathogenic/Likely pathogenic | 12 | 32949042 | 32949042 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012097 |
Deletion | NM_004572.3(PKP2):c.2146-?_2489+?del | PKP2 | Pathogenic | 12 | 32949043 | 32955490 | na | na | criteria provided, single submitter | - |
Indel | NM_001005242.3(PKP2):c.2311_2316delinsGAAA (p.Asn771fs) | PKP2 | Likely pathogenic | 12 | 32949084 | 32949089 | GGTGTT | TTTC | criteria provided, single submitter | ClinGen:CA012023 |