single nucleotide variant | NM_001035.3(RYR2):c.12569T>G (p.Val4190Gly) | RYR2 | Likely pathogenic | 1 | 237947581 | 237947581 | T | G | criteria provided, single submitter | ClinGen:CA16617110 |
Deletion | NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del) | RYR2 | Likely pathogenic | 1 | 237947562 | 237947564 | AGAG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.12544G>C (p.Glu4182Gln) | RYR2 | Likely pathogenic | 1 | 237947556 | 237947556 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA007580 |
single nucleotide variant | NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val) | RYR2 | Likely pathogenic | 1 | 237947551 | 237947551 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser) | RYR2 | Pathogenic/Likely pathogenic | 1 | 237947545 | 237947545 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA007573 |
single nucleotide variant | NM_001035.3(RYR2):c.12477G>T (p.Gln4159His) | RYR2 | Likely pathogenic | 1 | 237947489 | 237947489 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln) | RYR2 | Pathogenic | 1 | 237947482 | 237947482 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007532 |
single nucleotide variant | NM_001035.3(RYR2):c.12372C>A (p.Ser4124Arg) | RYR2 | Pathogenic | 1 | 237947384 | 237947384 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA007482 |
single nucleotide variant | NM_001035.3(RYR2):c.12325A>G (p.Met4109Val) | RYR2 | Likely pathogenic | 1 | 237947337 | 237947337 | A | G | criteria provided, single submitter | ClinGen:CA007471 |
single nucleotide variant | NM_001035.3(RYR2):c.12301C>T (p.Leu4101Phe) | RYR2 | Likely pathogenic | 1 | 237947313 | 237947313 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007454 |