Deletion | NM_145064.3(STAC3):c.383_399del (p.His128fs) | STAC3 | Pathogenic | 12 | 57642522 | 57642538 | AGGACTGACAGTGTTCAT | A | criteria provided, single submitter | ClinGen:CA658656298 |
single nucleotide variant | NM_145064.3(STAC3):c.739C>T (p.Gln247Ter) | STAC3 | Pathogenic | 12 | 57638387 | 57638387 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) | STAC3 | Pathogenic | 12 | 57638105 | 57638105 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA145329,UniProtKB:Q96MF2#VAR_071313,OMIM:615521.0001 |
single nucleotide variant | NM_145064.3(STAC3):c.862A>T (p.Lys288Ter) | STAC3 | Pathogenic/Likely pathogenic | 12 | 57638005 | 57638005 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA6646959,OMIM:615521.0002 |
Deletion | NM_000540.3(RYR1):c.15047_15048del (p.Gln5016fs) | RYR1 | Likely pathogenic | 19 | 39077990 | 39077991 | CAA | C | criteria provided, single submitter | ClinGen:CA658658810 |
single nucleotide variant | NM_000540.3(RYR1):c.15030T>A (p.Tyr5010Ter) | RYR1 | Likely pathogenic | 19 | 39077973 | 39077973 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16621739 |
single nucleotide variant | NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser) | RYR1 | Pathogenic/Likely pathogenic | 19 | 39077211 | 39077211 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000540.2(RYR1):c.14970delG | RYR1 | Likely pathogenic | 19 | 39077164 | 39077164 | AG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) | RYR1 | Likely pathogenic | 19 | 39076780 | 39076780 | C | T | reviewed by expert panel | ClinGen:CA024276,UniProtKB:P21817#VAR_045782 |
single nucleotide variant | NM_000540.3(RYR1):c.14869-1G>T | RYR1 | Pathogenic | 19 | 39076730 | 39076730 | G | T | criteria provided, single submitter | - |