Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000455.5(STK11):c.134_145del (p.Leu45_Tyr49delinsHis) | STK11 | Pathogenic | 19 | 1207046 | 1207057 | CTCATCGGCAAGT | C | criteria provided, single submitter | ClinGen:CA022653 |
Deletion | NM_000455.5(STK11):c.129del (p.Lys44fs) | STK11 | Pathogenic | 19 | 1207040 | 1207040 | GC | G | criteria provided, single submitter | ClinGen:CA16616219 |
single nucleotide variant | NM_000455.5(STK11):c.109C>T (p.Gln37Ter) | STK11 | Pathogenic | 19 | 1207021 | 1207021 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16602777 |
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.106del (p.Tyr36fs) | STK11 | Pathogenic | 19 | 1207018 | 1207018 | CT | C | criteria provided, single submitter | ClinGen:CA645369773 |
Deletion | NM_000455.5(STK11):c.105_106del (p.Tyr36fs) | STK11 | Pathogenic | 19 | 1207016 | 1207017 | ATC | A | criteria provided, single submitter | - |
Duplication | NM_000455.5(STK11):c.93dup (p.Thr32fs) | STK11 | Pathogenic | 19 | 1207003 | 1207004 | T | TC | criteria provided, single submitter | ClinGen:CA645369772 |
Duplication | NM_000455.5(STK11):c.82dup (p.Arg28fs) | STK11 | Pathogenic | 19 | 1206992 | 1206993 | A | AC | criteria provided, single submitter | - |
Deletion | NM_000455.5(STK11):c.67del (p.Asp23fs) | STK11 | Pathogenic | 19 | 1206978 | 1206978 | TG | T | criteria provided, single submitter | ClinGen:CA658656738 |
Deletion | NM_000455.4(STK11):c.(?_-1)_920+?del | STK11 | Pathogenic | 19 | 1206912 | 1222005 | na | na | criteria provided, single submitter | - |