Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000455.4(STK11):c.-1115_*16+?del | STK11 | Pathogenic | 19 | 1205798 | 1226662 | 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 | - |
Deletion | NC_000019.9:g.(?_852323)_(1226652_?)del | STK11 | Pathogenic | 19 | 852323 | 1226652 | na | na | criteria provided, single submitter | - |
Deletion | NC_000019.10:g.(?_1206908)_(1226652_?)del | STK11 | Pathogenic | 19 | 1206907 | 1226651 | na | na | criteria provided, single submitter | - |
Deletion | NM_000455.5(STK11):c.1097_1108+1232del | STK11 | Pathogenic | 19 | 1223158 | 1224401 | ACTTCACGGTGCCCGGTGAGTCTGGCGGGGGCCCCTGCCCGGCTCTGCTGACTCGGCCAGGATGTCCCACGGGAGCAGGGTGCCTGCCTGTCTGCAACAAGGACAGCTTCTGCCCTCTGGTGGCCAATCCCACGTCCCCAAAGCCTCCAGCCCACCTGCAGGCTGCCTCCGCCCTGCGGGCCGCTGGGACATGGCTGAAAGGTGTGGGGTCAGCGGGGGCACCAGCCCAGGCCTGTCTGGCCAGGAGGGTTCCTCAGGCGTCTCTCCGGGTGCTGCCCAGCCAGGCACCACCCACCGGCCTTGGCCTGAGTCCCAGCAGGAGCAGGCGGGGGAGCCCCAGGGTCGGGGGAGGGTAGGTGAGAGTCAGGGTGCAGGGTGGCCCCTCAGACAGCTGGCATGAGAGAGGGTCCAGTGGCCCTCCCTCCCGTCGTCCCTGAGGCCTGCCCGCTGGCCCTGATGCCGGCCGCCCTTCTTCCCTAGGTGGCGAGGAGGCGTCTGAGGCAGGGCTTAGAGCGGAGCGCGGCTTGCAGAAGAGCGAGGGCTCAGACCTTTCAGGAGAGGAAGCCTCTCGGCCGGCGCCGCAGTAGTGCCTGAGGAGGAGCTCAGGGCCTTAGCGTAGGGGCGGCCCACATTGGCAGCCAGCCCCTCCCCGCCATGCTCCCGGCTTGGCTGTGTTCGGCCCAGGGCTGGGCCGTGTCATAAAGAGTTTTGCAGTGTATCTGCAGGGTGGATGCTTGCTGCGCTCGGGCTGGAGCCTGAGGGGGCTTTCTGCTTTACTGTTTCAGCGGGAAGTGGTGGGCAGGGGCCGGCCTGAGAAGGGGGGTACGCCAGGCAGGTTGGGATGTGAGGACCCAGTGCACAGGGTCCACCCCCGGGCCCGAGGGTCCCAGAATAGTGGGGGCCCTGCAGAGAGCCCCCCATTAGGTCCCTCAGCACTCCTGGGCCCCTCATCAAACCCCTAGGCTCAGCTCAGTAGCTGGTCCCCAGGAGAGTACAGTGTGGGGGCCCCCGAGAGCACAGTGTATGGGGGTCCCCGGGGGGTACAGTGTCTGGGGGCCCCCCAGGAGGATGCAGCATGTGGGGGCCCCCCAGGAGGGTACAGCGTGTGTGGGGCCCCCAGGATCACAGGGTCTCAGCTCCTGGGCTCTTGGATTTGCAGCACCACGACCATCGCGTCTGGTCTGTTGGAACGGGAGGTGCTGCTGGGTACCCTGGTCACTAGGGTGTGCTGGGAGGTGGGGGCCC | A | criteria provided, single submitter | ClinGen:CA658799095 |
Deletion | NC_000019.10:g.(?_1218417)_(1223172_?)del | STK11 | Pathogenic | 19 | 1218416 | 1223171 | na | na | criteria provided, single submitter | - |
Deletion | NM_000455.5(STK11):c.989_996del (p.Asp330fs) | STK11 | Pathogenic | 19 | 1223050 | 1223057 | AGGACCGGT | A | criteria provided, single submitter | ClinGen:CA16616228 |
Duplication | NM_000455.5(STK11):c.988dup (p.Asp330fs) | STK11 | Pathogenic | 19 | 1223049 | 1223050 | A | AG | criteria provided, single submitter | ClinGen:CA273378 |
Duplication | NM_000455.5(STK11):c.965dup (p.Pro324fs) | STK11 | Pathogenic | 19 | 1223027 | 1223028 | A | AT | criteria provided, single submitter | - |
Deletion | NM_000455.5(STK11):c.964del (p.Ile322fs) | STK11 | Pathogenic | 19 | 1223027 | 1223027 | CA | C | criteria provided, single submitter | - |