single nucleotide variant | NM_000264.5(PTCH1):c.741C>A (p.Tyr247Ter) | PTCH1 | Pathogenic | 9 | 98244236 | 98244236 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612940 |
Duplication | NM_016169.4(SUFU):c.171dup (p.Val58fs) | SUFU | Pathogenic | 10 | 104264079 | 104264080 | T | TC | criteria provided, single submitter | ClinGen:CA16612978 |
single nucleotide variant | NM_016169.4(SUFU):c.436C>T (p.Arg146Ter) | SUFU | Pathogenic | 10 | 104309845 | 104309845 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612979 |
Indel | NM_000264.5(PTCH1):c.2860_2869delinsTAGT (p.Asp954_Pro957delinsTer) | PTCH1 | Pathogenic | 9 | 98221900 | 98221909 | GCATGTAGTC | ACTA | criteria provided, single submitter | ClinGen:CA16618902 |
single nucleotide variant | NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter) | PTCH1 | Pathogenic/Likely pathogenic | 9 | 98221936 | 98221936 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618903 |
single nucleotide variant | NM_000264.5(PTCH1):c.2701C>T (p.Gln901Ter) | PTCH1 | Pathogenic | 9 | 98224140 | 98224140 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618904 |
Deletion | NM_000264.5(PTCH1):c.2072_2073del (p.Thr691fs) | PTCH1 | Pathogenic | 9 | 98231210 | 98231211 | CGG | C | criteria provided, single submitter | ClinGen:CA16618905 |
Duplication | NM_000264.5(PTCH1):c.1615dup (p.Glu539fs) | PTCH1 | Pathogenic | 9 | 98238428 | 98238429 | T | TC | criteria provided, single submitter | ClinGen:CA16618907 |
single nucleotide variant | NM_000264.5(PTCH1):c.1603-2A>G | PTCH1 | Pathogenic | 9 | 98238443 | 98238443 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618908 |
single nucleotide variant | NM_000264.5(PTCH1):c.1348-2A>G | PTCH1 | Pathogenic | 9 | 98239986 | 98239986 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618909 |