Deletion | NM_024529.5(CDC73):c.1247del (p.Gly416fs) | CDC73 | Pathogenic | 1 | 193202211 | 193202211 | AG | A | criteria provided, single submitter | - |
Deletion | NM_024529.5(CDC73):c.718del (p.Ser240fs) | CDC73 | Pathogenic | 1 | 193111183 | 193111183 | CA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_024529.5(CDC73):c.664C>T (p.Arg222Ter) | CDC73 | Pathogenic | 1 | 193111131 | 193111131 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_024529.5(CDC73):c.358C>T (p.Arg120Ter) | CDC73 | Pathogenic | 1 | 193104571 | 193104571 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_024529.5(CDC73):c.53_54del (p.Ile18fs) | CDC73 | Pathogenic | 1 | 193091383 | 193091384 | ATT | A | criteria provided, single submitter | - |
single nucleotide variant | NM_024529.5(CDC73):c.1A>G (p.Met1Val) | CDC73 | Likely pathogenic | 1 | 193091331 | 193091331 | A | G | criteria provided, single submitter | - |
Duplication | NM_024529.5(CDC73):c.12_31dup (p.Tyr11fs) | CDC73 | Pathogenic | 1 | 193091339 | 193091340 | C | CGTGCTTAGCGTCCTGCGACA | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_193236246)_(193236366_?)del | CDC73 | Pathogenic | 1 | 193205376 | 193205496 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_193122191)_(193122341_?)del | CDC73 | Pathogenic | 1 | 193091321 | 193091471 | na | na | criteria provided, single submitter | - |
Indel | NM_024529.5(CDC73):c.375_376delinsT (p.Lys125fs) | CDC73 | Pathogenic | 1 | 193104671 | 193104672 | AC | T | criteria provided, single submitter | - |