single nucleotide variant | NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter) | TBC1D24 | Pathogenic | 16 | 2546270 | 2546270 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16608135 |
single nucleotide variant | NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) | TBC1D24 | Pathogenic/Likely pathogenic | 16 | 2546268 | 2546268 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA347136 |
single nucleotide variant | NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) | TBC1D24 | Pathogenic | 16 | 2546267 | 2546267 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA345418,UniProtKB:Q9ULP9#VAR_070913,OMIM:613577.0008 |
single nucleotide variant | NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val) | TBC1D24 | Pathogenic | 16 | 2546265 | 2546265 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA7843924 |
single nucleotide variant | NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter) | TBC1D24 | Pathogenic | 16 | 2546207 | 2546207 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA7843914 |
single nucleotide variant | NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu) | TBC1D24 | Pathogenic | 16 | 2546207 | 2546207 | C | G | criteria provided, single submitter | ClinGen:CA266220,UniProtKB:Q9ULP9#VAR_070912,OMIM:613577.0009 |
Deletion | NC_000016.10:g.(?_2496129)_(2500978_?)del | TBC1D24 | Pathogenic | 16 | 2546130 | 2550979 | na | na | criteria provided, single submitter | - |