| CEP290 W7C | insufficiently evaluated pathogenic | unknown |
(11 web hits) | |
| CEP290 R205X | insufficiently evaluated pathogenic | unknown |
(8 web hits) | |
| CEP290 E277Q | insufficiently evaluated not reviewed, f=0.014 | unknown |
| var-GS19017-1100-36-ASM |
| CEP290 D664G | uncertain benign, f=0.009 | unknown | Reported as a non-pathogenic polymorphism, appears to be more common in East Asians.
(1 web hit) | var-GS18942-1100-36-ASM |
| CEP290 L750X | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| CEP290 K838E | insufficiently evaluated none, f=0.032 | unknown |
(2 web hits) | var-GS18942-1100-36-ASM |
| CEP290 L906W | insufficiently evaluated not reviewed, f=0.038 | unknown |
| var-GS18501-1100-36-ASM |
| CEP290 D983Shift | pathogenic | recessive | Although there are no known reports for this variant, this is predicted to be very disruptive in a gene associated with recessive ciliopathy disorders (mostly Joubert Syndrome and/or Leber’s Congenital Amaurosis). This variant would be predicted to have a similarly severe recessive pathogenic effect.
| CGI sample GS000005532 |
| CEP290 A1129P | insufficiently evaluated none | unknown |
| |
| CEP290 Q1136H | insufficiently evaluated none | unknown |
| |
| CEP290 R1237H | insufficiently evaluated not reviewed, f=0.052 | unknown |
| hu3215A7 build 36 substitution variants |
| CEP290 D1413H | insufficiently evaluated not reviewed | unknown |
| |
| CEP290 K1575X | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| CEP290 R1746Q | insufficiently evaluated none, f=0.008 | unknown |
| |
| CEP290 R1752Q | insufficiently evaluated not reviewed, f=0.002 | unknown |
| var-GS19129-1100-36-ASM |
| CEP290 I1836V | insufficiently evaluated not reviewed, f=0.004 | unknown |
| var-GS19025-1100-36-ASM |
| CEP290 G1890X | insufficiently evaluated pathogenic, f=0.000 | unknown |
(11 web hits) | |
| CEP290 E1903X | insufficiently evaluated pathogenic | unknown |
(1 web hit) | |
| CEP290 I2202Shift | insufficiently evaluated not reviewed | unknown |
| CGI sample GS00253-DNA_B01_200_37 |
| CEP290 R2210C | insufficiently evaluated not reviewed, f=0.000 | unknown |
| var-GS10851-1100-36-ASM |
| CEP290 I2269T | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |