single nucleotide variant | NM_000264.5(PTCH1):c.1511C>A (p.Pro504Gln) | PTCH1 | Likely pathogenic | 9 | 98239132 | 98239132 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000264.5(PTCH1):c.1531G>C (p.Gly511Arg) | PTCH1 | Likely pathogenic | 9 | 98239112 | 98239112 | C | G | criteria provided, single submitter | - |
Deletion | NM_000264.5(PTCH1):c.1737_1745del (p.Val580_Val582del) | PTCH1 | Likely pathogenic | 9 | 98232197 | 98232205 | CACCACTACT | C | criteria provided, single submitter | - |
Deletion | NM_000264.5(PTCH1):c.747-54_1261del | PTCH1 | Likely pathogenic | 9 | 98240423 | 98242924 | GAAAGCACCTTTTGAGTGGAGTTCTGTGCGACACTCTGATGAACCACCTGTGGTCACAACAGAATGCGAAATGCCCAAATGCAATGAACACTTCCACAAGCCTCGACAGCACAGATCTCAGGTGACACAGCGCAGCCCTTCTTTTTTTCTGATGCATTTTTTAAAAAAGTTCTACGTGATTCCAGGGCAGGGAGAGAAGCTGAAGTTGGGCTAACATTAAAGAACCCTGTTTTAGGACAAGGGCCATGGCTAATCAGTGGCAGTGGGTGCTGCTGAGGGCTGGTGTCGCTGGAGTTCACTCTGAGTGCTGTATTTACTCCAGGGCTGAGACTGCTCGTCTCTTCTCCGTTAACTTCACAATTGACTTGCGGTCCCATCGGCTCCCCACTAATCCAAAACAACTCATTCTTATGGCCCTCCTCCCCCTGTTCATTTGCTGGCCACTTTTAAAAGGTCACATGCAGCTCAGTAGAGGTCACTGCTTGGGAAACAAAGGCCAGCTCCTGTCACATGACCTGACCAAGGGGCCTGCAGCTGTGAACAGATTCTATGCCTTGCTAATGTTTTCCAGACACCTTTGCTAACCAAGTGTTTTTTTAAACACTGTTATGTGCTTTAGTTCTGGAATTCACAACTGGTTACTAAACATGTCTCAGGGCACCCCAATTAGAACTAGTCTTTTAGATATTATCCCAGGATTTTCAATATCAAAGAAGAGGAAAAAAGTTTTCATCCCATCAAGTTCCCAGAATTGCAATGTTTTGAAAATAAAGCGAATGGAAAGAAATGTTTTAAATAATGGTGAAAATGAAGAATTGCATAACCAGCGAGTCTGCACGCCGATTCGAAGGTGGGTTTACCTCCACATATGTCCTCTGCCAGGCCTCCAGGATGGCTGCCGCTTTGTCCTCGTTCCAGTTGATGTGTGAGACATACTCGTACCCCTTGAAGTGCTCGTACATTTGCTTGGGAGTCATTAACTGGAACATGGTCTGCAGGGCATGGGCGCTGCAGCACAGTCCAAGGGAAGGCACATCATCAGTATTCCCAGGAAGCAGTTTCCACTGCCTCAAATCCCCAGCCAGCTCCCCCAACTCACTGGCTGCAATTCTTTTCCTTCTCTGTGAGCACATGTTTCCATTAAAATGGGACCAGGATGGTTATTTTATTTAATAGATTGATGTACCATATTAAAGGTATAACCTTACAAACCTTTTACAGATATACCCCAAAATTAAATTAATAGGCAATTTCCTTTCACAGTTTCCATTCCATGAAACAGGAAGGGGAGAGGAGCAGATAGCTTGAACAGATACACCGGGCTCAGTGACGCATACTTGCTGTGCAGAAATCCCAGACGGTGGCGTTCCCAAGGGAGAAATCTTACACGAAACGCCAGACACCTGACTGACCAGAGTCCACAAGTGCACAAAGGATAATTCTTATTGAGCCGCTGGCTCTCCATCTTTTGCTAACAGTCTATGACACTGTGCAGCTCGCACCACCAACTCTCTCTGACCAGTGTGTCCCGGCCTACTTTACACCTGCTCCCATTCTCTACCTAATGGGCAGATCTCCTTAAACCCTATAGTCAGGAACTATGGTCCTGATGAAAACTACAAATCCATTCTTGAAAAATTCCCCACAAGGTGCTTTTTCAAGCTGTTGCAGTCTGCTACTATTTCTTAATATTCTATGACGCCACCTGGCTAGCGAGGATAACGGTTTAAGTATTAATACAAATACACTTGCCGATGTCAGGAGGGAAGTGGCTTTTGAGGAAAGGAAGAAGACTACAGGGCATAGATTGTCCTCGGGAGCTGGCTTACCTGACGAGTTTTCCAGTGCTGTTCTTGACTGTGCCACCCACAATCAACTCCTCCTGCCAGTGCATATACTTTCTGGATAAGCCATGACATCCACCATTCAAAACAAGGGCCATATCAAGAGGCTAAAATAAAAAGACAGCCACATAATTATGGGAATTAGTAGGCAGGTCACATGCCTTGTTAAAATCCAGTGCATTAAGGGCTTGTGTGTTTCAGAGAGAACATTAATAGCAAGGCTAATGGGAGGTGTATGGCAAATCTTACAGCAAAATTTAGCTCTATAAATAAACTTAGTTCCATAGACAAAGACGATCATGGAGAATGAAATGTTAAAAATGAAAATAATAAAGTGAACGATGAATGGACACAAAAAAGTGTTTTGCTCTCCACCCTTCTGAGAGCGCTCACTGCTGGTACTCACTTTGGTTGAATTTTTGTTGGGGGCTGTGGCGGGGCAGTCTGGATCGGCCGGATTGAGGCAGGGGCGGTCCATGTAACCATGACCAACCTCAGCCTTATTCAGCATTTCCTCCCAGCTGTCCACTTGATAGTTTATTTTCTTTAACTCTTCCAGGAATTCCAAAGGGTCGAAGTTTGTCCACCGCAAAGGAGGTTTACCTCTGCAAAAGAAATTAGGAGACGAGACCATGAAAAGAGCCTTCTAAACGCATCGT | G | criteria provided, single submitter | - |
Deletion | NM_000264.5(PTCH1):c.2251-28_2276del | PTCH1 | Likely pathogenic | 9 | 98229682 | 98229735 | GCCCAGAAAAAGGAAGATCACCACTACCTGGAACAGAAGAGGCACAAGGTCAGAC | G | criteria provided, single submitter | - |
single nucleotide variant | NM_016169.4(SUFU):c.183-1G>A | SUFU | Likely pathogenic | 10 | 104268925 | 104268925 | G | A | criteria provided, single submitter | ClinGen:CA377888078 |
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.1418_1432del (p.Gly473_Val477del) | PTCH1 | Likely pathogenic | 9 | 98239900 | 98239914 | GCAACCAGCAGGACGC | G | criteria provided, single submitter | ClinGen:CA658656046 |
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_016169.4(SUFU):c.847G>T (p.Glu283Ter) | SUFU | Likely pathogenic | 10 | 104356987 | 104356987 | G | T | criteria provided, single submitter | ClinGen:CA377910608 |