KCNQ2 R207Q | insufficiently evaluated pathogenic | unknown |
(21 web hits) | |
KCNQ2 R207W | insufficiently evaluated pathogenic | unknown |
(67 web hits) | |
KCNQ2 R214W | insufficiently evaluated pathogenic | unknown |
(51 web hits) | |
KCNQ2 S247W | insufficiently evaluated pathogenic | unknown |
(7 web hits) | |
KCNQ2 Y284C | insufficiently evaluated pathogenic | unknown |
(42 web hits) | |
KCNQ2 A306T | insufficiently evaluated pathogenic | unknown |
(53 web hits) | |
KCNQ2 E515D | insufficiently evaluated not reviewed, f=0.000 | unknown |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
KCNQ2 K526N | insufficiently evaluated pathogenic | unknown |
(9 web hits) | |
KCNQ2 N749T | insufficiently evaluated not reviewed | unknown |
| hu728FFF build 36 substitution variants (hom) |
KCNQ2 N752T | insufficiently evaluated not reviewed | unknown |
| hu728FFF build 36 substitution variants (hom) |
KCNQ2 N762T | insufficiently evaluated not reviewed | unknown |
| hu728FFF build 36 substitution variants (hom) |
KCNQ2 N780T | insufficiently evaluated not reviewed, f=0.597 | unknown |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom) |