single nucleotide variant | NM_000455.5(STK11):c.498C>G (p.Tyr166Ter) | STK11 | Pathogenic | 19 | 1220405 | 1220405 | C | G | criteria provided, single submitter | - |
Deletion | NM_000455.5(STK11):c.197_225del (p.Val66fs) | STK11 | Pathogenic | 19 | 1207103 | 1207131 | AAGGAGGTGCTGGACTCGGAGACGCTGTGC | A | criteria provided, single submitter | - |
Duplication | NM_000455.5(STK11):c.82dup (p.Arg28fs) | STK11 | Pathogenic | 19 | 1206992 | 1206993 | A | AC | criteria provided, single submitter | - |
Deletion | NC_000019.9:g.(?_852323)_(1226652_?)del | STK11 | Pathogenic | 19 | 852323 | 1226652 | na | na | criteria provided, single submitter | - |
Deletion | NC_000019.9:g.(?_852323)_(1222011_?)del | STK11 | Pathogenic | 19 | 852323 | 1222011 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000455.5(STK11):c.291-1G>T | STK11 | Pathogenic | 19 | 1218415 | 1218415 | G | T | criteria provided, single submitter | - |
Deletion | NC_000019.10:g.(?_1221939)_(1222016_?)del | STK11 | Pathogenic | 19 | 1221938 | 1222015 | na | na | criteria provided, single submitter | - |
Deletion | NC_000019.10:g.(?_1206908)_(1221346_?)del | STK11 | Pathogenic | 19 | 1206907 | 1221345 | na | na | criteria provided, single submitter | - |
Deletion | NC_000019.10:g.(?_1206904)_(1226657_?)del | STK11 | Pathogenic | 19 | 1206903 | 1226656 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000455.5(STK11):c.724G>A (p.Gly242Arg) | STK11 | Pathogenic | 19 | 1220706 | 1220706 | G | A | criteria provided, single submitter | - |