Deletion | NM_016169.4(SUFU):c.71del (p.Pro24fs) | SUFU | Pathogenic | 10 | 104263974 | 104263974 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA116365,OMIM:607035.0005 |
Deletion | NC_000009.12:g.(?_95442982)_(95508549_?)del | PTCH1 | Pathogenic | 9 | 98205264 | 98270831 | na | na | criteria provided, single submitter | - |
Deletion | NC_000009.12:g.(?_95101697)_(95508371_?)del | PTCH1 | Pathogenic | 9 | 97863979 | 98270653 | na | na | criteria provided, single submitter | - |
Deletion | NC_000009.12:g.(?_95446906)_(95508367_?)del | PTCH1 | Pathogenic | 9 | 98209188 | 98270649 | na | na | criteria provided, single submitter | - |
Deletion | NM_000264.5(PTCH1):c.114del (p.Leu39fs) | PTCH1 | Pathogenic/Likely pathogenic | 9 | 98270530 | 98270530 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16043675 |
single nucleotide variant | NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter) | PTCH1 | Pathogenic | 9 | 98270457 | 98270457 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA374121269 |
single nucleotide variant | NM_000264.5(PTCH1):c.201+1G>A | PTCH1 | Likely pathogenic | 9 | 98270442 | 98270442 | C | T | criteria provided, single submitter | ClinGen:CA374121236 |
Deletion | NM_000264.5(PTCH1):c.202-16_227del | PTCH1 | Pathogenic | 9 | 98268856 | 98268897 | CGGCGCTTTCCGGCCAGTAGCCTTCCCCTGGGGACGAAGCAGA | C | criteria provided, single submitter | ClinGen:CA658797250 |
single nucleotide variant | NM_000264.5(PTCH1):c.202-2A>C | PTCH1 | Pathogenic/Likely pathogenic | 9 | 98268883 | 98268883 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA374120777 |
single nucleotide variant | NM_000264.5(PTCH1):c.234G>A (p.Trp78Ter) | PTCH1 | Pathogenic | 9 | 98268849 | 98268849 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA374120644 |