Deletion | NC_000001.11:g.(?_193122191)_(193250722_?)del | CDC73 | Pathogenic | 1 | 193091321 | 193219852 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_004752.4(GCM2):c.187G>A (p.Gly63Ser) | GCM2 | Likely pathogenic | 6 | 10877529 | 10877529 | C | T | criteria provided, single submitter | ClinGen:CA117937,UniProtKB:O75603#VAR_058045,OMIM:603716.0003 |
single nucleotide variant | NM_004752.4(GCM2):c.1504A>G (p.Asn502Asp) | GCM2 | Likely pathogenic | 6 | 10874245 | 10874245 | T | C | criteria provided, single submitter | ClinGen:CA3633870 |
Deletion | NC_000006.12:g.(?_10875891)_(10881865_?)del | GCM2 | Pathogenic | 6 | 10876124 | 10882098 | na | na | criteria provided, single submitter | - |
Duplication | NM_004752.4(GCM2):c.456+2dup | GCM2 | Pathogenic | 6 | 10876675 | 10876676 | T | TA | criteria provided, single submitter | ClinGen:CA3634073 |
single nucleotide variant | NM_004752.4(GCM2):c.408C>A (p.Tyr136Ter) | GCM2 | Pathogenic | 6 | 10876726 | 10876726 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA362724360 |
Duplication | NM_018646.6(TRPV6):c.530_533dup (p.Arg179fs) | TRPV6 | Pathogenic | 7 | 142574968 | 142574969 | G | GGCAA | criteria provided, multiple submitters, no conflicts | OMIM:606680.0001 |
single nucleotide variant | NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr) | TRPV6 | Pathogenic/Likely pathogenic | 7 | 142574530 | 142574530 | A | G | criteria provided, multiple submitters, no conflicts | OMIM:606680.0003 |
single nucleotide variant | NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln) | TRPV6 | Likely pathogenic | 7 | 142572886 | 142572886 | C | T | criteria provided, single submitter | OMIM:606680.0002 |
single nucleotide variant | NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu) | TRPV6 | Likely pathogenic | 7 | 142572711 | 142572711 | C | T | criteria provided, single submitter | OMIM:606680.0004 |