Deletion | NC_000010.11:g.(?_102593630)_(102597299_?)del | SUFU | Pathogenic | 10 | 104353387 | 104357056 | na | na | criteria provided, single submitter | - |
Duplication | NM_000264.5(PTCH1):c.1135dup (p.Tyr379fs) | PTCH1 | Pathogenic | 9 | 98241361 | 98241362 | T | TA | criteria provided, single submitter | ClinGen:CA658797234 |
single nucleotide variant | NM_000264.5(PTCH1):c.767G>A (p.Trp256Ter) | PTCH1 | Pathogenic | 9 | 98242850 | 98242850 | C | T | criteria provided, single submitter | ClinGen:CA374114539 |
Deletion | NM_000264.5(PTCH1):c.1885del (p.Ala629fs) | PTCH1 | Pathogenic | 9 | 98231398 | 98231398 | GC | G | criteria provided, single submitter | ClinGen:CA658797239 |
Duplication | NM_000264.5(PTCH1):c.1651dup (p.Thr551fs) | PTCH1 | Pathogenic | 9 | 98238392 | 98238393 | G | GT | criteria provided, single submitter | ClinGen:CA658797240 |
Deletion | NM_000264.5(PTCH1):c.741_746+1del | PTCH1 | Likely pathogenic | 9 | 98244230 | 98244236 | ACAGGAGG | A | criteria provided, single submitter | ClinGen:CA658797235 |
Deletion | NM_000264.5(PTCH1):c.615del (p.Lys205fs) | PTCH1 | Pathogenic | 9 | 98244455 | 98244455 | AT | A | criteria provided, single submitter | ClinGen:CA658797237 |
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 |
Deletion | NM_000264.5(PTCH1):c.279del (p.Cys92_Tyr93insTer) | PTCH1 | Pathogenic | 9 | 98268804 | 98268804 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658797247 |
Deletion | NM_000264.5(PTCH1):c.202-16_227del | PTCH1 | Pathogenic | 9 | 98268856 | 98268897 | CGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGA | C | criteria provided, single submitter | ClinGen:CA658797250 |