| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|---|---|---|---|
| CYP11B1 C10Y | insufficiently evaluated not reviewed, f=0.001 | unknown | var-GS19834-1100-36-ASM | |
| CYP11B1 P42S | insufficiently evaluated pathogenic | unknown |
(26 web hits) | |
| CYP11B1 R43Q | insufficiently evaluated none, f=0.021 | unknown |
(17 web hits) | CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| var-GS19735-1100-36-ASM | ||||
| var-GS18555-1100-36-ASM | ||||
| var-GS18537-1100-36-ASM | ||||
| CGI sample GS00253-DNA_B01_200_37 | ||||
| var-GS18526-1100-36-ASM (hom) | ||||
| var-GS18947-1100-36-ASM | ||||
| var-GS19670-1100-36-ASM | ||||
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom) | ||||
| var-GS18956-1100-36-ASM | ||||
| var-GS18517-1100-36-ASM | ||||
| CYP11B1 P94L | insufficiently evaluated pathogenic | unknown |
(69 web hits) | |
| CYP11B1 W116X | insufficiently evaluated pathogenic | unknown |
(5 web hits) | |
| CYP11B1 Q121E | insufficiently evaluated not reviewed | unknown |
(1 web hit) | |
| CYP11B1 N133H | insufficiently evaluated pathogenic | unknown |
(25 web hits) | |
| CYP11B1 T248I | insufficiently evaluated none, f=0.000 | unknown |
(4 web hits) | var-GS19704-1100-36-ASM |
| CYP11B1 T318M | insufficiently evaluated pathogenic | unknown |
(49 web hits) | |
| CYP11B1 T319M | insufficiently evaluated pathogenic | unknown |
(19 web hits) | |
| CYP11B1 N335D | insufficiently evaluated not reviewed, f=0.002 | unknown | var-GS18505-1100-36-ASM | |
| CYP11B1 A348T | insufficiently evaluated not reviewed | unknown | CGI sample GS01173-DNA_D06 from PGP sample 69488604 | |
| CYP11B1 A368D | insufficiently evaluated pathogenic | unknown |
(62 web hits) | |
| CYP11B1 R374Q | insufficiently evaluated pathogenic | unknown |
(13 web hits) | |
| CYP11B1 A386V | insufficiently evaluated benign, f=0.022 | recessive | The variant has been reported causative for congenital adrenal hyperplasia, but a later report reclassifies it as a benign polymorphism after it was seen in one control. (8 web hits) | CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| var-GS19735-1100-36-ASM | ||||
| var-GS18555-1100-36-ASM | ||||
| var-GS18537-1100-36-ASM | ||||
| var-GS18526-1100-36-ASM (hom) | ||||
| var-GS19670-1100-36-ASM | ||||
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom) | ||||
| var-GS18517-1100-36-ASM | ||||
| CYP11B1 Y423X | insufficiently evaluated pathogenic | unknown |
(19 web hits) | |
| CYP11B1 R448H | insufficiently evaluated pathogenic | unknown |
(130 web hits) | |
| Page: 1 2 Total results: 17 | ||||