single nucleotide variant | NM_024529.5(CDC73):c.237+1G>C | CDC73 | Pathogenic | 1 | 193094348 | 193094348 | G | C | criteria provided, single submitter | ClinGen:CA16609972 |
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 |
Deletion | NM_024529.5(CDC73):c.4del (p.Ala2fs) | CDC73 | Pathogenic | 1 | 193091333 | 193091333 | TG | T | criteria provided, single submitter | ClinGen:CA16609960 |
single nucleotide variant | NM_024529.5(CDC73):c.188T>C (p.Leu63Pro) | CDC73 | Likely pathogenic | 1 | 193094298 | 193094298 | T | C | criteria provided, single submitter | ClinGen:CA16609951 |
Deletion | NM_024529.5(CDC73):c.245del (p.Asn82fs) | CDC73 | Pathogenic | 1 | 193099308 | 193099308 | GA | G | criteria provided, single submitter | ClinGen:CA16609946 |
Duplication | NC_000001.10:g.(?_193172925)_(193205486_?)dup | CDC73 | Likely pathogenic | 1 | 193172925 | 193205486 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_193130174)_(193130243_?)del | CDC73 | Pathogenic | 1 | 193099304 | 193099373 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_024529.5(CDC73):c.132-2A>G | CDC73 | Likely pathogenic | 1 | 193094240 | 193094240 | A | G | criteria provided, single submitter | ClinGen:CA16044356 |
single nucleotide variant | NM_024529.5(CDC73):c.355C>T (p.Gln119Ter) | CDC73 | Pathogenic | 1 | 193104568 | 193104568 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602772 |
single nucleotide variant | NM_024529.5(CDC73):c.226C>T (p.Arg76Ter) | CDC73 | Pathogenic | 1 | 193094336 | 193094336 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602771 |