Deletion | NM_000455.5(STK11):c.-1114_290+1del | STK11 | Pathogenic | 19 | 1205798 | 1207202 | GGCGTGTCGGGCGCGGAAGGGGGAGGCGGCCCGGGGCGCCCGCGAGTGAGGCGCGGGGCGGCGAAGGGAGCGCGGGTGGCGGCACTTGCTGCCGCGGCCTTGGATGGGCTGGGCCCCCCTCGCCGCTCCGCCTCCTCCACACGCGCGGCGGCCGCGGCGAGGGGGACGCGCCGCCCGGGGCCCGGCACCTTCGGGAACCCCCCGGCCCGGAGCCTGCGGCCTGCGCCGCCTCGGCCGCCGGGAGCCCCGTGGAGCCCCCGCCGCCGCGCCGCCCCGCGGACCGGACGCTGAGGGCACTCGGGGCGGGGCGCGCGCTCGGGCAGACGTTTGCGGGGAGGGGGGCGCCTGCCGGGCCCCGGCGACCACCTTGGGGGTCGCGGGCCGGCTCGGGGGGCGCCCAGTGCGGGCCCTCGCGGGCGCCGGGCAGCGACCAGCCCTGAGCGGAGCTGTTGGCCGCGGCGGGAGGCCTCCCGGACGCCCCCAGCCCCCCGAACGCTCGCCCGGGCCGGCGGGAGTCGGCGCCCCCCGGGAGGTCCGCTCGGTCGTCCGCGGCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCGTCGCCGGAGACGCCCCCAGCGAAGTTGGGCTCTCCAGGTGTGGGGGTCCCGGGGGGTAGCGACGTCGCGGACCCGGCCTGTGGGATGGGCGGCCCGGAGAAGACTGCGCTCGGCCGTGTTCATACTTGTCCGTGGGCCTGAGGTCCCCGGAGGATGACCTAGCACTGAAAAGCCCCGGCCGGCCTCCCCAGGGTCCCCGAGGACGAAGTTGACCCTGACCGGGCCGTCTCCCAGTTCTGAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTCCCGGACCCCCGGTGCCCGCCGGTCCGCAGACCCTGCACCGGGCTTGGACTCGCAGCCGGGACTGACGTGTAGAACAATCGTTTCTGTTGGAAGAAGGGTTTTTCCCTTCCTTTTGGGGTTTTTGTTGCCTTTTTTTTTTCTTTTTTCTTTGTAAAATTTTGGAGAAGGGAAGTCGGAACACAAGGAAGGACCGCTCACCCGCGGACTCAGGGCTGGCGGCGGGACTCCAGGACCCTGGGTCCAGCATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTGGGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGCAAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTACGGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTCAAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAA | G | criteria provided, single submitter | - |
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 |
single nucleotide variant | NM_000455.5(STK11):c.250A>T (p.Lys84Ter) | STK11 | Pathogenic | 19 | 1207162 | 1207162 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA022756,OMIM:602216.0006 |
Deletion | NM_000455.5(STK11):c.218_230del (p.Cys73fs) | STK11 | Pathogenic | 19 | 1207128 | 1207140 | TGTGCAGGAGGGCC | T | criteria provided, single submitter | ClinGen:CA022723 |
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.209dup (p.Thr71fs) | STK11 | Pathogenic | 19 | 1207120 | 1207121 | G | GA | criteria provided, single submitter | ClinGen:CA645369767 |
single nucleotide variant | NM_000455.5(STK11):c.200T>C (p.Leu67Pro) | STK11 | Pathogenic/Likely pathogenic | 19 | 1207112 | 1207112 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA022714,UniProtKB:Q15831#VAR_006202,OMIM:602216.0008 |
Deletion | NM_000455.5(STK11):c.199del (p.Leu67fs) | STK11 | Pathogenic/Likely pathogenic | 19 | 1207111 | 1207111 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA645509244 |
Deletion | NM_000455.5(STK11):c.195_198del (p.Glu65fs) | STK11 | Pathogenic | 19 | 1207107 | 1207110 | AGGTG | A | criteria provided, single submitter | ClinGen:CA645369766 |
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 |