single nucleotide variant | NM_012186.3(FOXE3):c.244A>G (p.Met82Val) | FOXE3 | Pathogenic/Likely pathogenic | 1 | 47882231 | 47882231 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001613.4(ACTA2):c.138G>T (p.Met46Ile) | ACTA2 | Pathogenic/Likely pathogenic | 10 | 90707135 | 90707135 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser) | TGFBR1 | Pathogenic/Likely pathogenic | 9 | 101911532 | 101911532 | T | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_002317.7(LOX):c.545del (p.Pro182fs) | LOX | Pathogenic/Likely pathogenic | 5 | 121413136 | 121413136 | AG | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002317.7(LOX):c.604G>T (p.Gly202Ter) | LOX | Pathogenic/Likely pathogenic | 5 | 121413077 | 121413077 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002474.3(MYH11):c.4578+1G>C | MYH11 | Pathogenic/Likely pathogenic | 16 | 15815278 | 15815278 | C | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002317.7(LOX):c.1035+1G>A | LOX | Pathogenic/Likely pathogenic | 5 | 121409707 | 121409707 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA360881260 |
Deletion | NM_002317.7(LOX):c.1131+1_1131+6del | LOX | Pathogenic/Likely pathogenic | 5 | 121406183 | 121406188 | TCTTTAC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618096 |
single nucleotide variant | NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu) | TGFBR1 | Pathogenic/Likely pathogenic | 9 | 101900266 | 101900266 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612911 |
single nucleotide variant | NM_002474.3(MYH11):c.4578+1G>A | MYH11 | Pathogenic/Likely pathogenic | 16 | 15815278 | 15815278 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16043053 |