single nucleotide variant | NM_000264.5(PTCH1):c.394+1G>A | PTCH1 | Pathogenic | 9 | 98268688 | 98268688 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA374120125 |
single nucleotide variant | NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter) | PTCH1 | Pathogenic | 9 | 98248148 | 98248148 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA374117333 |
Duplication | NM_000264.5(PTCH1):c.407dup (p.Ser137fs) | PTCH1 | Pathogenic | 9 | 98248143 | 98248144 | T | TA | criteria provided, single submitter | - |
single nucleotide variant | NM_000264.5(PTCH1):c.433C>T (p.Gln145Ter) | PTCH1 | Pathogenic | 9 | 98248118 | 98248118 | G | A | criteria provided, single submitter | ClinGen:CA374117210 |
single nucleotide variant | NM_000264.5(PTCH1):c.448G>T (p.Glu150Ter) | PTCH1 | Pathogenic | 9 | 98248103 | 98248103 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA374117142 |
Deletion | NM_000264.5(PTCH1):c.454_455del (p.Met152fs) | PTCH1 | Pathogenic | 9 | 98248096 | 98248097 | CAT | C | criteria provided, single submitter | ClinGen:CA16612783 |
Insertion | NM_000264.5(PTCH1):c.489_490insTA (p.Glu164Ter) | PTCH1 | Pathogenic | 9 | 98248061 | 98248062 | C | CTA | criteria provided, single submitter | ClinGen:CA16618914 |
Deletion | NM_000264.5(PTCH1):c.482_491del (p.Thr161fs) | PTCH1 | Pathogenic | 9 | 98248060 | 98248069 | TTCTTTAGGGG | T | criteria provided, single submitter | ClinGen:CA645369456 |
Deletion | NM_000264.5(PTCH1):c.564_569del (p.His189_Val190del) | PTCH1 | Likely pathogenic | 9 | 98247982 | 98247987 | TACATGG | T | criteria provided, single submitter | ClinGen:CA658656059 |
single nucleotide variant | NM_000264.5(PTCH1):c.579C>A (p.Tyr193Ter) | PTCH1 | Pathogenic | 9 | 98247972 | 98247972 | G | T | criteria provided, single submitter | - |