single nucleotide variant | NM_000455.5(STK11):c.256C>T (p.Arg86Ter) | STK11 | Pathogenic | 19 | 1207168 | 1207168 | C | T | criteria provided, single submitter | ClinGen:CA402944528 |
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 |
Deletion | NM_000455.5(STK11):c.851del (p.Asp284fs) | STK11 | Likely pathogenic | 19 | 1221328 | 1221328 | GA | G | criteria provided, single submitter | ClinGen:CA658684212 |
single nucleotide variant | NM_000455.5(STK11):c.923G>A (p.Trp308Ter) | STK11 | Pathogenic/Likely pathogenic | 19 | 1222986 | 1222986 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA402951422 |
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 |