Gene | Coding | Amino acid change | PolyPhen | SIFT | Mutation Taster | Phenotype | Number of cases |
---|---|---|---|---|---|---|---|
MTHFR | c.1816C > T | p.R606C | Possibly damaging | Damaging | Disease causing | BL CLP | 1/103 |
MTHFR | c.62G > A | p.S21N | Benign | Damaging | Disease causing | BL CP | 1/103 |
MYH9 | c.5722G > A | p.D1908N | Possibly damaging | Damaging | Disease causing | L CLP | 1/103 |
MYH9 | c.3676C > T | p.R1226W | Benign | Damaging | Disease causing | L CLP | 1/103 |
MYH9 | c.3320G > A | p.R1107Q | Possibly damaging | Damaging | Disease causing | BL CP | 1/103 |
MYH9 | c.3262G > A | p.A1088T | Possibly damaging | Damaging | Disease causing | R CL | 1/103 |
MYH9 | c.2606C > T | p.T869M | Benign | Damaging | Polymorphism | BL CP | 1/103 |
MYH9 | c.452A > G | p.Y151C | Possibly damaging | Damaging | Disease causing | L CLP | 1/103 |
CRISPLD2 | c.119_121del | p.40_41del | — | — | Polymorphism | L CLP | 1/103 |
CRISPLD2 | c.1337C > G | p.A446G | Possibly damaging | Damaging | Disease causing | L CLP | 1/103 |
ABCA4 | c.6498C > G | p.I2166M | Possibly damaging | Tolerated | Disease causing | R CLP | 1/103 |
ABCA4 | c.4610C > T | p.T1537M | Possibly damaging | Damaging | Disease causing | L CL; unknown CP | 2/103 |
ABCA4 | c.4297G > A | p.V1433I | Possibly damaging | Tolerated | Polymorphism | BL CLP | 1/103 |
ABCA4 | c.763C > T | p.R255C | Possibly damaging | Tolerated | Disease causing | L CL | 1/103 |
FOXE1 | c.1090G > A | p.G364S | Possibly damaging | Tolerated | Disease causing | BL CLP | 2/103 |
FGF8 | c.251C > T | p.P84L | Possibly damaging | Damaging | Disease causing | L CL | 1/103 |
FGF8 | c.250C > T | p.P84S | Possibly damaging | Damaging | Disease causing | L CL | 1/103 |
VAX1 | c.363dupT | p.C122fs | — | — | Disease causing | R CLP | 1/103 |
PVRL1 | c.334 T > A | p.S112T | Benign | — | Disease causing | Unknown CLP | 1/103 |
PVRL1 | c.52C > T | p.L18F | Benign | — | Polymorphism | R CLP; L CLP | 2/103 |
FGFR2 | c.293C > T | p.T98M | Possibly damaging | Damaging | Disease causing | L CL | 1/103 |
IRF6 | c.421_423del | p.141_141del | — | — | Disease causing | R CLP | 1/103 |