Deletion | NM_000264.5(PTCH1):c.3450-2_3483del | PTCH1 | Pathogenic | 9 | 98212189 | 98212224 | GGATGGTGAGGATCGCCAGCACAGCAAAGAAATACCT | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000264.5(PTCH1):c.3449+1G>A | PTCH1 | Pathogenic | 9 | 98215759 | 98215759 | C | T | criteria provided, single submitter | ClinGen:CA336067 |
single nucleotide variant | NM_000264.5(PTCH1):c.3440T>C (p.Phe1147Ser) | PTCH1 | Likely pathogenic | 9 | 98215769 | 98215769 | A | G | criteria provided, single submitter | ClinGen:CA374111664 |
Deletion | NM_000264.5(PTCH1):c.3428_3429del (p.Gly1142_Ser1143insTer) | PTCH1 | Pathogenic | 9 | 98215780 | 98215781 | CAG | C | criteria provided, single submitter | ClinGen:CA658657882 |
single nucleotide variant | NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe) | PTCH1 | Pathogenic/Likely pathogenic | 9 | 98215814 | 98215814 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro) | PTCH1 | Pathogenic/Likely pathogenic | 9 | 98215815 | 98215815 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10582674,UniProtKB:Q13635#VAR_010980 |
Deletion | NM_000264.5(PTCH1):c.3364_3365del (p.Met1122fs) | PTCH1 | Pathogenic | 9 | 98215844 | 98215845 | CAT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612827 |
Duplication | NM_000264.5(PTCH1):c.3314dup (p.Thr1106fs) | PTCH1 | Pathogenic | 9 | 98215894 | 98215895 | C | CA | criteria provided, single submitter | - |
Duplication | NM_000264.5(PTCH1):c.3287dup (p.Thr1097fs) | PTCH1 | Pathogenic | 9 | 98218576 | 98218577 | G | GA | criteria provided, single submitter | - |
single nucleotide variant | NM_000264.5(PTCH1):c.3169-1G>A | PTCH1 | Likely pathogenic | 9 | 98218696 | 98218696 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612830 |