single nucleotide variant | NM_001199107.2(TBC1D24):c.971C>A (p.Ser324Ter) | TBC1D24 | Pathogenic | 16 | 2547716 | 2547716 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His) | TBC1D24 | Pathogenic | 16 | 2547068 | 2547068 | A | C | criteria provided, single submitter | ClinGen:CA394377931 |
single nucleotide variant | NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) | TBC1D24 | Likely pathogenic | 16 | 2547015 | 2547015 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA394377660 |
single nucleotide variant | NM_001199107.2(TBC1D24):c.725G>A (p.Arg242His) | TBC1D24 | Pathogenic | 16 | 2546874 | 2546874 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) | TBC1D24 | Pathogenic/Likely pathogenic | 16 | 2546873 | 2546873 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA319025,UniProtKB:Q9ULP9#VAR_070915,OMIM:613577.0007 |
Indel | NM_001199107.2(TBC1D24):c.691_700delinsCTT (p.Val231fs) | TBC1D24 | Pathogenic | 16 | 2546840 | 2546849 | GTCTTCCTGG | CTT | criteria provided, single submitter | ClinGen:CA319071 |
single nucleotide variant | NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) | TBC1D24 | Pathogenic | 16 | 2546835 | 2546835 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA344789,UniProtKB:Q9ULP9#VAR_070102,OMIM:613577.0005 |
single nucleotide variant | NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) | TBC1D24 | Pathogenic/Likely pathogenic | 16 | 2546829 | 2546829 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA319035 |
single nucleotide variant | NM_001199107.2(TBC1D24):c.619C>T (p.Gln207Ter) | TBC1D24 | Pathogenic | 16 | 2546768 | 2546768 | C | T | criteria provided, single submitter | ClinGen:CA7844031 |
Deletion | NM_001199107.2(TBC1D24):c.557del (p.Leu186fs) | TBC1D24 | Pathogenic | 16 | 2546706 | 2546706 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA620709065 |