Duplication | NM_000455.5(STK11):c.895_901dup (p.Arg301fs) | STK11 | Pathogenic | 19 | 1221978 | 1221979 | T | TCTCCATC | criteria provided, single submitter | ClinGen:CA658799092 |
single nucleotide variant | NM_000455.5(STK11):c.891G>T (p.Arg297Ser) | STK11 | Pathogenic | 19 | 1221976 | 1221976 | G | T | criteria provided, single submitter | - |
Deletion | NM_000455.5(STK11):c.890_907del (p.Arg297_Gln302del) | STK11 | Likely pathogenic | 19 | 1221972 | 1221989 | AAGAGGTTCTCCATCCGGC | A | criteria provided, single submitter | ClinGen:CA645369740 |
Deletion | NM_000455.5(STK11):c.884_888del (p.Ala295fs) | STK11 | Pathogenic | 19 | 1221968 | 1221972 | GGCCAA | G | criteria provided, single submitter | ClinGen:CA658656766 |
single nucleotide variant | NM_000455.5(STK11):c.877G>T (p.Glu293Ter) | STK11 | Pathogenic | 19 | 1221962 | 1221962 | G | T | criteria provided, single submitter | ClinGen:CA023322 |
Deletion | NM_000455.5(STK11):c.876del (p.Glu291_Tyr292insTer) | STK11 | Pathogenic | 19 | 1221961 | 1221961 | AC | A | criteria provided, single submitter | ClinGen:CA645369739 |
Deletion | NC_000019.10:g.(?_1221949)_(1222006_?)del | STK11 | Pathogenic | 19 | 1221948 | 1222005 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000455.5(STK11):c.863-1G>A | STK11 | Likely pathogenic | 19 | 1221947 | 1221947 | G | A | criteria provided, single submitter | ClinGen:CA336282 |
single nucleotide variant | NM_000455.5(STK11):c.863-2A>G | STK11 | Likely pathogenic | 19 | 1221946 | 1221946 | A | G | criteria provided, single submitter | ClinGen:CA402951135 |
Deletion | NC_000019.10:g.(?_1221939)_(1222016_?)del | STK11 | Pathogenic | 19 | 1221938 | 1222015 | na | na | criteria provided, single submitter | - |