VID | Gene | HGVSC | HGVSP | SIFT Prediction | PolyPhen2Â prediction | Clinvar annotation |
---|---|---|---|---|---|---|
19:1046239:G | ABCA7 | c.1456C > G | p.(Pro486Ala) | Deleterious | Probably damaging | NA |
19:1047336:A | ABCA7 | c.2026G > A | p.(Ala676Thr) | Deleterious | Probably damaging | Benign [single provider] |
19:1058635:T | ABCA7 | c.5168C > T | p.(Ser1723Leu) | Deleterious | Probably damaging | NA |
2:202587783:T | ALS2 | c.3685T > A | p.(Trp1229Arg) | Deleterious | Possibly damaging | NA |
11:108117787:T | ATM | c.998C > T | p.(Ser333Phe) | Deleterious | Probably damaging | Conflicting interpretations: Uncertain significance(1); Benign(2); Likely benign(12) |
1:17312787:A | ATP13A2 | c.3472C > T | p.(Arg1158Cys) | Deleterious​ | Possibly damaging​ | Uncertain significance​ |
1:207680070:T | CR1 | c.313C > T | p.(Arg105Cys)​ | Deleterious​ | Probably damaging​ | NA |
1:207739203:T | CR1 | c.2537C > T​ | p.(Ser846Phe)​ | Deleterious​ | possibly damaging​ | NA |
11:88027209:C | CTSC | c.1357A > G​ | p.(Ile453Val)​ | Deleterious​ | possibly damaging​ | Benign/Likely benign​ |
7:143088584:T​ | EPHA1​ | c.2897G > A​ | p.(Arg966His)​ | Deleterious​ | Probably damaging​ | NA |
7:143092269:A​ | EPHA1​ | c.2090C > T​ | p.(Pro697Leu)​ | Deleterious​ | Possibly damaging​ | NA |
17:42427095:A​ | GRN​ | c.325G > A​ | p.(Gly109Arg)​ | Deleterious​ | Probably damaging​ | Uncertain significance |
2:74759825:A​ | HTRA2​ | c.1195G > A​ | p.(Gly399Ser)​ | Deleterious​ | Probably damaging​ | Benign/Likely benign |
5:126158560:T​ | LMNB1​ | c.1474G > T​ | p.(Ala492Ser)​ | Deleterious​ | possibly Damaging​ | NA |
19:45375208:T​ | NECTIN2​ | c.577C > T​ | p.(Arg193Trp)​ | Deleterious​ | Probably damaging​ | NA |
4:170398474:C​ | NEK1​ | c.2235T > G​ | p.(Asn745Lys)​ | Deleterious​ | Probably damaging​ | Conflicting interpretations: Likely pathogenic(1); Benign(3); Likely benign(2) |
7:37923923:C​ | NME8​ | c.1013T > C​ | p.(Ile338Thr)​ | Deleterious​ | Probably damaging​ | Benign |
7:37924854:A​ | NME8​ | c.1247G > A​ | p.(Ser416Asn)​ | Deleterious​ | Probably damaging​ | NA |
7:37936557:A​ | NME8​ | c.1630G > A​ | p.(Ala544Thr)​ | Deleterious​ | Probably damaging​ | Benign/Likely benign​ |
19:15273335:T​ | NOTCH3​ | c.5854G > A​ | p.(Val1952Met)​ | Deleterious​ | Probably damaging​ | Benign/Likely benign​ |
19:15289863:A​ | NOTCH3​ | c.3691C > T​ | p.(Arg1231Cys)​ | Deleterious​ | Possibly damaging​ | Conflicting interpretations: Pathogenic(2); Uncertain significance(5) |
19:15290917:A​ | NOTCH3​ | c.3293C > T​ | p.(Thr1098Ile)​ | Deleterious​ | Possibly damaging​ | NA |
20:3888719:A​ | PANK2​ | c.775G > A​ | p.(Gly259Arg)​ | Deleterious​ | Probably Damaging​ | NA |
1:20976976:A​ | PINK1​ | c.1538G > A​ | p.(Gly513Asp)​ | Deleterious​ | Probably damaging​ | NA |
22:38539240:A​ | PLA2G6​ | c.481C > T​ | p.(Arg161Cys)​ | Deleterious​ | Probably damaging​ | Uncertain significance​ |
15:89865073:C​ | POLG​ | c.2492A > G​ | p.(Tyr831Cys)​ | Deleterious​ | Possibly damaging​ | Benign/Likely benign​ |
6:161781201:A​ | PRKN​ | c.1204C > T​ | p.(Arg402Cys)​ | Deleterious​ | Probably damaging​ | Conflicting interpretations: Uncertain significance(2); Benign(1) |
14:93119136:A​ | RIN3​ | c.1742G > A​ | p.(Arg581Gln)​ | Deleterious​ | Probably damaging​ | NA |
14:93142861:C​ | RIN3​ | c.2377T > C​ | p.(Tyr793His)​ | Deleterious​ | Possibly damaging​ | NA |
9:135202325:C​ | SETX​ | c.4660T > G​ | p.(Cys1554Gly)​ | Deleterious​ | Probably damaging​ | Benign/Likely benign​ |
14:92905737:C​ | SLC24A4​ | c.377T > C​ | p.(Leu126Pro)​ | Deleterious​ | Probably damaging​ | NA |
11:2189817:C​ | TH​ | c.484T > G​ | p.(Phe162Val)​ | Deleterious​ | Possibly damaging​ | Uncertain significance​ |
9:132580901:G​ | TOR1A | c.646G > C | p.(Asp216His) | Deleterious | Possibly damaging | Benign |
15:62269347:C​ | VPS13C | c.2342T > G | p.(Leu781Trp) | Deleterious | Probably damaging | NA |
7:100016781:C​ | ZCWPW1 | c.314A > G | p.(Glu105Gly) | Deleterious | Probably damaging | NA |