Deletion | NC_000001.11:g.(?_193122191)_(193250722_?)del | CDC73 | Pathogenic | 1 | 193091321 | 193219852 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_193236246)_(193236366_?)del | CDC73 | Pathogenic | 1 | 193205376 | 193205496 | na | na | criteria provided, single submitter | - |
Duplication | NC_000001.10:g.(?_193172925)_(193205486_?)dup | CDC73 | Likely pathogenic | 1 | 193172925 | 193205486 | na | na | criteria provided, single submitter | - |
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.1052del (p.Pro351fs) | CDC73 | Pathogenic | 1 | 193181212 | 193181212 | TC | T | criteria provided, single submitter | ClinGen:CA658656978 |
single nucleotide variant | NM_024529.5(CDC73):c.729+1G>T | CDC73 | Likely pathogenic | 1 | 193111197 | 193111197 | G | T | criteria provided, single submitter | ClinGen:CA16609963 |
Indel | NM_024529.5(CDC73):c.723_725delinsC (p.Gly242fs) | CDC73 | Pathogenic | 1 | 193111190 | 193111192 | AGG | C | criteria provided, single submitter | ClinGen:CA10602747 |
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.505C>T (p.Gln169Ter) | CDC73 | Pathogenic | 1 | 193107296 | 193107296 | C | T | criteria provided, single submitter | ClinGen:CA343961378 |