Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Duplication | NM_000455.5(STK11):c.157dup (p.Asp53fs) | STK11 | Pathogenic | 19 | 1207064 | 1207065 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA504706178 |
Deletion | NC_000019.10:g.(?_1218411)_(1220723_?)del | STK11 | Pathogenic | 19 | 1218410 | 1220722 | na | na | criteria provided, single submitter | - |
Deletion | NM_000455.5(STK11):c.180del (p.Ser59_Tyr60insTer) | STK11 | Pathogenic | 19 | 1207092 | 1207092 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA504706283 |
single nucleotide variant | NM_000455.5(STK11):c.393C>G (p.Tyr131Ter) | STK11 | Pathogenic | 19 | 1219341 | 1219341 | C | G | criteria provided, single submitter | ClinGen:CA402948150 |
single nucleotide variant | NM_000455.5(STK11):c.108C>G (p.Tyr36Ter) | STK11 | Pathogenic | 19 | 1207020 | 1207020 | C | G | criteria provided, single submitter | ClinGen:CA402943853 |
Deletion | NM_000455.5(STK11):c.67del (p.Asp23fs) | STK11 | Pathogenic | 19 | 1206978 | 1206978 | TG | T | criteria provided, single submitter | ClinGen:CA658656738 |
Deletion | NM_000455.5(STK11):c.357del (p.Asn119fs) | STK11 | Pathogenic | 19 | 1218482 | 1218482 | AC | A | criteria provided, single submitter | ClinGen:CA658656740 |
Deletion | NM_000455.5(STK11):c.816del (p.Ser271_Tyr272insTer) | STK11 | Pathogenic | 19 | 1221293 | 1221293 | AC | A | criteria provided, single submitter | ClinGen:CA658656758 |
Duplication | NM_000455.5(STK11):c.525_532dup (p.Lys178fs) | STK11 | Pathogenic | 19 | 1220430 | 1220431 | A | AAGGACATC | criteria provided, single submitter | ClinGen:CA658656745 |
Deletion | NC_000019.9:g.(?_1219317)_(1221345_?)del | STK11 | Pathogenic | 19 | 1219317 | 1221345 | na | na | criteria provided, single submitter | - |