single nucleotide variant | NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu) | TBC1D24 | Pathogenic | 16 | 2546682 | 2546682 | C | T | criteria provided, single submitter | ClinGen:CA156356,UniProtKB:Q9ULP9#VAR_072107,OMIM:613577.0014 |
single nucleotide variant | NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter) | TBC1D24 | Pathogenic/Likely pathogenic | 16 | 2546632 | 2546632 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA7844009 |
Deletion | NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) | TBC1D24 | Pathogenic/Likely pathogenic | 16 | 2546623 | 2546623 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA319047 |
single nucleotide variant | NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter) | TBC1D24 | Pathogenic | 16 | 2546591 | 2546591 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His) | TBC1D24 | Pathogenic | 16 | 2546588 | 2546588 | G | C | criteria provided, single submitter | ClinGen:CA339785,UniProtKB:Q9ULP9#VAR_064365,OMIM:613577.0001 |
single nucleotide variant | NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter) | TBC1D24 | Pathogenic | 16 | 2546495 | 2546495 | A | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys) | TBC1D24 | Likely pathogenic | 16 | 2546470 | 2546470 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16608138 |
single nucleotide variant | NM_001199107.2(TBC1D24):c.192C>A (p.Cys64Ter) | TBC1D24 | Likely pathogenic | 16 | 2546341 | 2546341 | C | A | criteria provided, single submitter | ClinGen:CA16620168 |
Deletion | NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer) | TBC1D24 | Pathogenic | 16 | 2546320 | 2546320 | GC | G | criteria provided, single submitter | ClinGen:CA620709056 |
single nucleotide variant | NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter) | TBC1D24 | Pathogenic | 16 | 2546280 | 2546280 | G | A | criteria provided, multiple submitters, no conflicts | - |