| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs2099130 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, intron variant, missense variant, genic downstream transcript variant |
|
rs6716782 |
T>G |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, splice acceptor variant, genic upstream transcript variant, intron variant |
|
rs28933405 |
C>A,T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs34706299 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs55634230 |
A>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs55914517 |
C>A,T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs56373393 |
C>T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs61232800 |
T>C,G |
Benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72647842 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign |
Coding sequence variant, genic upstream transcript variant, synonymous variant |
|
rs72647861 |
C>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs72647868 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs72647870 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs72647884 |
G>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs72647894 |
C>G,T |
Benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs72647897 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, missense variant, intron variant |
|
rs72647901 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, missense variant, intron variant |
|
rs72647902 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, missense variant, intron variant |
|
rs72648913 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, missense variant, intron variant |
|
rs72648923 |
C>A,G,T |
Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648925 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648929 |
C>G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance, benign-likely-benign |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648930 |
T>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648936 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648940 |
C>A |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648942 |
T>C |
Benign, uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648945 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648949 |
G>C,T |
Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648953 |
G>T |
Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648958 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648965 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign |
Genic upstream transcript variant, genic downstream transcript variant, intron variant |
|
rs72648969 |
C>T |
Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648971 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Genic downstream transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648973 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648975 |
G>T |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, genic downstream transcript variant, intron variant |
|
rs72648981 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648989 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648990 |
G>A,C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648994 |
T>C |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72648997 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign |
Missense variant, genic downstream transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72650011 |
G>A |
Benign, uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72650031 |
G>A,T |
Benign, conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72650034 |
C>G,T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72650035 |
T>C |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72650040 |
C>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs72650064 |
G>T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, genic downstream transcript variant, intron variant |
|
rs72677223 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign |
Coding sequence variant, genic downstream transcript variant, synonymous variant |
|
rs72677225 |
C>A |
Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs111671438 |
C>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant, genic downstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
|
rs112009206 |
A>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
|
rs115825044 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs117551279 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant, intron variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs138060032 |
G>A |
Uncertain-significance, pathogenic, likely-benign |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs138331646 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign-likely-benign |
Coding sequence variant, synonymous variant, genic upstream transcript variant |
|
rs138788406 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant, genic upstream transcript variant |
|
rs138853909 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, intron variant |
|
rs139486133 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, intron variant, missense variant, coding sequence variant |
|
rs139504522 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs139517732 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs139790668 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, intron variant |
|
rs140064945 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, missense variant, coding sequence variant |
|
rs140640738 |
T>G |
Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, intron variant |
|
rs140664731 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs140743001 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs141027782 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, missense variant, coding sequence variant |
|
rs141258018 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs142132973 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, intron variant, missense variant, coding sequence variant |
|
rs142304137 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, intron variant, missense variant, coding sequence variant |
|
rs142414432 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs142951505 |
C>T |
Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs143845692 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant, intron variant |
|
rs144025230 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, intron variant |
|
rs144209883 |
A>G,T |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, missense variant, coding sequence variant |
|
rs144214844 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant, genic upstream transcript variant |
|
rs144639994 |
C>A,T |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs144690298 |
C>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, stop gained, intron variant, genic upstream transcript variant |
|
rs144750850 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, synonymous variant |
|
rs144848584 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs145039979 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs145581345 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, coding sequence variant, intron variant |
|
rs145649088 |
G>A,C |
Likely-pathogenic, likely-benign, uncertain-significance |
Genic upstream transcript variant, missense variant, coding sequence variant, stop gained |
|
rs145932311 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, coding sequence variant, intron variant |
|
rs146057575 |
T>C |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs146400809 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign |
Missense variant, coding sequence variant, genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs146627500 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Missense variant, coding sequence variant, genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs146636599 |
C>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs146690035 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant, intron variant |
|
rs146828735 |
T>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs146970027 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs147314430 |
C>G |
Likely-benign, not-provided, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant, intron variant |
|
rs147603843 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, synonymous variant |
|
rs147879266 |
C>T |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant |
|
rs148115514 |
C>G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant, intron variant |
|
rs148140756 |
G>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, genic downstream transcript variant, intron variant |
|
rs148164929 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs148169214 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs148269839 |
A>C,G |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs148631577 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs148920986 |
C>A,T |
Likely-pathogenic, uncertain-significance |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs149059189 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs149470241 |
T>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs149523263 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Missense variant, synonymous variant, coding sequence variant, genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs149748934 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant, intron variant |
|
rs149755500 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs149855485 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Missense variant, coding sequence variant, genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs149910892 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign |
Synonymous variant, coding sequence variant, genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs150231219 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs150544093 |
C>T |
Uncertain-significance, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, intron variant, synonymous variant |
|
rs151253841 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, genic upstream transcript variant, coding sequence variant |
|
rs181206334 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, intron variant, synonymous variant |
|
rs182934463 |
T>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, intron variant, synonymous variant |
|
rs183220684 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Upstream transcript variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, intron variant |
|
rs183245562 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs183328495 |
G>A |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, intron variant, synonymous variant |
|
rs183336802 |
T>C |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic upstream transcript variant, coding sequence variant |
|
rs184153985 |
T>G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant, intron variant |
|
rs184307461 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, intron variant, synonymous variant |
|
rs184412722 |
T>C |
Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant, intron variant |
|
rs184713215 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs184888200 |
A>G,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant |
|
rs185962498 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, intron variant |
|
rs186624523 |
C>T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, intron variant |
|
rs187365142 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant |
|
rs187703540 |
C>T |
Likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs188878341 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, intron variant |
|
rs189127014 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, intron variant |
|
rs189286381 |
C>A,T |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, intron variant |
|
rs189951108 |
C>T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, intron variant |
|
rs190192954 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, intron variant |
|
rs190461403 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, intron variant, missense variant, genic downstream transcript variant |
|
rs190604150 |
C>T |
Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant, intron variant |
|
rs190636272 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, intron variant |
|
rs191699632 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, intron variant, genic downstream transcript variant, missense variant |
|
rs191708454 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs191968963 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs192408585 |
A>C,T |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs192766485 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs192857526 |
G>C |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, synonymous variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs199546417 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs199557654 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs199565715 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, genic upstream transcript variant, splice donor variant |
|
rs199576800 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, synonymous variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs199620003 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs199793620 |
G>A,C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs199951296 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, genic upstream transcript variant |
|
rs200061856 |
A>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs200103997 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs200118743 |
C>G |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs200161147 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs200204761 |
T>G |
Conflicting-interpretations-of-pathogenicity, benign |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs200213832 |
G>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs200359082 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs200445568 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs200459347 |
G>A,C,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs200593368 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs200594798 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs200760091 |
T>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, intron variant, genic upstream transcript variant, missense variant |
|
rs200792058 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs200821070 |
T>A,C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs200840285 |
T>A |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, upstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs200941841 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs200953966 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, intron variant, genic upstream transcript variant, missense variant |
|
rs200972189 |
C>A,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs200992277 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, genic downstream transcript variant, intron variant, missense variant |
|
rs201035457 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, intron variant, missense variant |
|
rs201046911 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs201057307 |
G>C |
Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs201089861 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, genic upstream transcript variant |
|
rs201129413 |
A>G |
Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, synonymous variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs201257644 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs201263441 |
C>T |
Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs201390600 |
A>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, synonymous variant, missense variant |
|
rs201394117 |
C>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs201395913 |
T>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, synonymous variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs201418615 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs201437752 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs201523784 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs201565932 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs201571580 |
C>A,T |
Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs201611946 |
A>C,G |
Conflicting-interpretations-of-pathogenicity |
Intron variant, genic upstream transcript variant |
|
rs201625116 |
A>G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs201653851 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs201728165 |
C>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs201738153 |
G>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs201744218 |
G>C,T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs201797790 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, intron variant, missense variant |
|
rs201810836 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs201837864 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, genic upstream transcript variant |
|
rs201857541 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs201888760 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs201944202 |
C>A |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs201991864 |
G>A |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs202014478 |
C>T |
Benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs202089818 |
G>A |
Benign-likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, synonymous variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs202160275 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs202234172 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant, genic upstream transcript variant, splice acceptor variant |
|
rs267607155 |
A>G,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs267607157 |
G>A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs267607158 |
G>A |
Pathogenic |
Intron variant, stop gained, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs367648529 |
C>T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, genic upstream transcript variant |
|
rs367821526 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, synonymous variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs367826445 |
C>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs367888853 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs368005198 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, synonymous variant |
|
rs368056479 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, intron variant, missense variant |
|
rs368155350 |
C>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, synonymous variant |
|
rs368282893 |
C>T |
Likely-pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs368327166 |
TCT>-,TCTTCT |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign |
Inframe insertion, intron variant, inframe deletion, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs368548209 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, genic upstream transcript variant |
|
rs368698752 |
A>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant, synonymous variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs368770038 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs368781863 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, synonymous variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs368967197 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs369095270 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs369275615 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Genic upstream transcript variant, intron variant, missense variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs369365087 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs369385294 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs369434563 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs369508943 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs369594816 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant |
|
rs369739111 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs369800903 |
C>T |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs369933152 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs370208081 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs370266918 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign |
Genic upstream transcript variant, intron variant, missense variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs370548693 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs370812788 |
A>C |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Genic upstream transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs370903846 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs370912401 |
G>T |
Likely-pathogenic, uncertain-significance |
Genic upstream transcript variant, stop gained, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs370973715 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs371121439 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, genic downstream transcript variant, intron variant |
|
rs371318311 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, genic downstream transcript variant, intron variant |
|
rs371447978 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, synonymous variant, coding sequence variant |
|
rs371452173 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs371455094 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs371542947 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs371596417 |
A>G |
Likely-pathogenic, uncertain-significance |
Genic upstream transcript variant, splice donor variant |
|
rs371687650 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Genic upstream transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs371725574 |
C>T |
Likely-pathogenic, uncertain-significance |
Genic upstream transcript variant, intron variant, splice acceptor variant, genic downstream transcript variant |
|
rs372124201 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs372166634 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic downstream transcript variant, intron variant |
|
rs372264428 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, benign |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs372277017 |
G>A |
Pathogenic, uncertain-significance |
Genic upstream transcript variant, stop gained, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs372382546 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign |
Synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs372392376 |
A>C |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs372528823 |
C>A,T |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs372997298 |
C>A,T |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs373065549 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Genic upstream transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs373083865 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs373179717 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs373223049 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs373429851 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, intron variant, coding sequence variant, genic downstream transcript variant |
|
rs373491468 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs373496180 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs373636988 |
A>T |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign |
Genic downstream transcript variant, intron variant |
|
rs373815877 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, genic downstream transcript variant, intron variant, synonymous variant, upstream transcript variant, coding sequence variant |
|
rs374408615 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs374419129 |
T>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs374449452 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs374479775 |
C>G |
Conflicting-interpretations-of-pathogenicity, benign |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs374509926 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, synonymous variant, coding sequence variant |
|
rs374615369 |
C>T |
Likely-pathogenic, uncertain-significance |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs374620001 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs374631591 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs374683153 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs375009631 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, genic downstream transcript variant, intron variant |
|
rs375022009 |
G>A |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs375083775 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs375103237 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs375417155 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant |
|
rs375448572 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, synonymous variant, coding sequence variant |
|
rs375474669 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs375603989 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs376037792 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs376527094 |
A>C,G |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Genic upstream transcript variant, coding sequence variant, missense variant, synonymous variant |
|
rs376744914 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, synonymous variant, intron variant |
|
rs376820575 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, synonymous variant, intron variant |
|
rs376823283 |
C>A,G,T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant, intron variant |
|
rs376874956 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant, intron variant |
|
rs377042940 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant, intron variant |
|
rs377232641 |
TCT>- |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, intron variant, inframe deletion |
|
rs377556808 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, synonymous variant, intron variant |
|
rs397517481 |
C>A,T |
Likely-pathogenic |
Genic upstream transcript variant, intron variant, splice donor variant, genic downstream transcript variant |
|
rs397517486 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, coding sequence variant, stop gained |
|
rs397517497 |
C>T |
Uncertain-significance, likely-pathogenic |
Genic upstream transcript variant, intron variant, splice donor variant |
|
rs397517501 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, genic downstream transcript variant |
|
rs397517521 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, genic downstream transcript variant |
|
rs397517527 |
C>T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant, intron variant |
|
rs397517540 |
C>A |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, genic downstream transcript variant |
|
rs397517547 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained |
|
rs397517565 |
T>- |
Uncertain-significance, likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs397517570 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs397517573 |
C>G,T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs397517576 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs397517580 |
G>A |
Uncertain-significance, likely-pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
|
rs397517663 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant |
|
rs397517825 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign |
Genic upstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant, intron variant |
|
rs397517827 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant, intron variant |
|
rs397517829 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant, intron variant |
|
rs397517830 |
C>A,T |
Uncertain-significance, likely-pathogenic |
Stop gained, genic upstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant, intron variant |
|
rs398124445 |
T>A |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant, genic downstream transcript variant |
|
rs398124450 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, coding sequence variant, synonymous variant, genic downstream transcript variant |
|
rs528853682 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, synonymous variant |
|
rs532102837 |
G>A,T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign |
Genic upstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant, intron variant |
|
rs533384820 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs535281449 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, intron variant, missense variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs542965530 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, intron variant |
|
rs543102139 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs547338168 |
G>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, synonymous variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant |
|
rs550441902 |
C>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic upstream transcript variant, coding sequence variant |
|
rs551811137 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant, missense variant, coding sequence variant |
|
rs553548392 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant |
|
rs557125278 |
A>G |
Benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs557526069 |
C>A,T |
Pathogenic |
Genic upstream transcript variant, intron variant, genic downstream transcript variant, missense variant, coding sequence variant, stop gained |
|
rs561557554 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant |
|
rs563582627 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, genic upstream transcript variant, intron variant |
|
rs565784637 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, synonymous variant, coding sequence variant |
|
rs566299753 |
G>T |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant |
|
rs566794300 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, synonymous variant, intron variant, coding sequence variant |
|
rs569003242 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, intron variant |
|
rs571348685 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs577363824 |
C>T |
Pathogenic, uncertain-significance |
Splice donor variant, genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs577716745 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant, genic upstream transcript variant |
|
rs587780487 |
TTCAGGTAGAACTTCCTCTTCTTCAGGTAGAACTTCCTCTTC>-,TTCAGGTAGAACTTCCTCTTC |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign |
Inframe deletion, genic downstream transcript variant, intron variant, genic upstream transcript variant, coding sequence variant |
|
rs587780488 |
C>G,T |
Pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs587780987 |
G>A |
Benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, genic upstream transcript variant |
|
rs727503636 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Splice donor variant, genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs727503644 |
->A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs727503652 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant |
|
rs727503655 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant, missense variant, genic upstream transcript variant, coding sequence variant |
|
rs727503658 |
A>- |
Likely-pathogenic, uncertain-significance |
Genic downstream transcript variant, intron variant, genic upstream transcript variant, frameshift variant, coding sequence variant |
|
rs727503661 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, intron variant, missense variant, genic upstream transcript variant, coding sequence variant |
|
rs727503682 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs727504198 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance |
Stop gained, genic downstream transcript variant, coding sequence variant, missense variant |
|
rs727504199 |
TTC>- |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Inframe deletion, genic downstream transcript variant, coding sequence variant |
|
rs727504452 |
CTGCCGTGCT>- |
Likely-pathogenic |
Genic downstream transcript variant, intron variant, genic upstream transcript variant, frameshift variant, coding sequence variant |
|
rs727504499 |
G>A |
Likely-pathogenic, uncertain-significance |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs727504515 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, intron variant, missense variant, genic upstream transcript variant, coding sequence variant |
|
rs727504843 |
C>A |
Likely-pathogenic |
Genic downstream transcript variant, intron variant, genic upstream transcript variant, stop gained, coding sequence variant |
|
rs727505256 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs727505350 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs730880244 |
T>C,G |
Likely-pathogenic, uncertain-significance |
Genic downstream transcript variant, splice acceptor variant |
|
rs746033038 |
C>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, genic upstream transcript variant |
|
rs746115846 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant, genic upstream transcript variant |
|
rs746563654 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs746721983 |
G>A |
Pathogenic, likely-pathogenic, uncertain-significance |
Genic downstream transcript variant, intron variant, genic upstream transcript variant, stop gained, coding sequence variant |
|
rs746912694 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic downstream transcript variant, intron variant, genic upstream transcript variant, synonymous variant, coding sequence variant |
|
rs747240394 |
G>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic downstream transcript variant, intron variant, missense variant, genic upstream transcript variant, coding sequence variant |
|
rs747286444 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Intron variant, genic upstream transcript variant, missense variant, stop gained, coding sequence variant |
|
rs747289468 |
G>A,C |
Likely-pathogenic |
Genic downstream transcript variant, intron variant, genic upstream transcript variant, missense variant, stop gained, coding sequence variant |
|
rs747376234 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant, missense variant, genic upstream transcript variant, coding sequence variant |
|
rs748313513 |
G>A,T |
Likely-pathogenic |
Stop gained, synonymous variant, coding sequence variant, genic upstream transcript variant |
|
rs748675191 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs748885610 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, synonymous variant |
|
rs749705939 |
C>T |
Not-provided, pathogenic, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, splice acceptor variant |
|
rs749823104 |
T>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, synonymous variant |
|
rs749875409 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, intron variant |
|
rs750996600 |
C>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, synonymous variant |
|
rs751733811 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant, intron variant, synonymous variant |
|
rs751902051 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, synonymous variant |
|
rs752620885 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, synonymous variant |
|
rs752856716 |
->A |
Uncertain-significance, likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs753356474 |
G>A,C |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic upstream transcript variant, coding sequence variant |
|
rs753892271 |
C>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, intron variant |
|
rs755492644 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, synonymous variant |
|
rs755793186 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, synonymous variant, intron variant |
|
rs756282138 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, synonymous variant |
|
rs756475184 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, genic downstream transcript variant, intron variant |
|
rs756518824 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, synonymous variant, intron variant |
|
rs757569345 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, synonymous variant |
|
rs757604614 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, synonymous variant |
|
rs758598014 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, synonymous variant |
|
rs760666570 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, missense variant, coding sequence variant, synonymous variant |
|
rs761859812 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, genic upstream transcript variant |
|
rs762141482 |
A>G |
Benign, conflicting-interpretations-of-pathogenicity |
Intron variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, synonymous variant |
|
rs762330685 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, synonymous variant |
|
rs762470432 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, genic downstream transcript variant |
|
rs763098227 |
TCT>- |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant, inframe deletion, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs763361422 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, genic downstream transcript variant, intron variant |
|
rs763629416 |
C>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, synonymous variant |
|
rs765019023 |
->A |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, splice donor variant |
|
rs765214404 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, genic downstream transcript variant |
|
rs765647346 |
C>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant |
|
rs767120669 |
C>A,T |
Likely-pathogenic |
Missense variant, stop gained, genic downstream transcript variant, coding sequence variant, intron variant |
|
rs767137418 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, synonymous variant |
|
rs767983460 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, synonymous variant |
|
rs768632287 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs768936623 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, synonymous variant |
|
rs769097909 |
C>A,T |
Pathogenic, uncertain-significance |
Missense variant, stop gained, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs769505705 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, synonymous variant |
|
rs770029258 |
T>A,C |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant, stop gained |
|
rs770084292 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, synonymous variant |
|
rs770767998 |
G>A,C,T |
Likely-pathogenic, uncertain-significance |
Missense variant, stop gained, genic downstream transcript variant, coding sequence variant, synonymous variant |
|
rs771562210 |
C>A,T |
Likely-pathogenic, uncertain-significance |
Genic downstream transcript variant, splice donor variant |
|
rs771843862 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs771898264 |
TTC>- |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Inframe deletion, genic upstream transcript variant, coding sequence variant |
|
rs772195716 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs772235481 |
G>A,C |
Pathogenic, uncertain-significance |
Missense variant, stop gained, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs772600691 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, synonymous variant |
|
rs772882862 |
T>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs773744166 |
C>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant |
|
rs775552018 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, intron variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant |
|
rs775889693 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign |
Synonymous variant, coding sequence variant, genic downstream transcript variant |
|
rs775954427 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant, genic downstream transcript variant |
|
rs776361113 |
A>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, intron variant, genic upstream transcript variant |
|
rs777924443 |
CTCT>- |
Pathogenic |
Intron variant, genic downstream transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs778172350 |
->C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant |
|
rs778338717 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, intron variant, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant |
|
rs779549899 |
AG>- |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant |
|
rs779652311 |
A>T |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, intron variant, missense variant, genic downstream transcript variant |
|
rs780415493 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, genic upstream transcript variant, stop gained, missense variant |
|
rs781552736 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, intron variant, genic downstream transcript variant, synonymous variant |
|
rs786205542 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs786205543 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, genic upstream transcript variant, intron variant |
|
rs786205544 |
T>C |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, intron variant, missense variant, genic downstream transcript variant |
|
rs794727043 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, genic upstream transcript variant, splice donor variant, intron variant |
|
rs794727178 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, synonymous variant |
|
rs794727888 |
AA>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained, intron variant, genic downstream transcript variant |
|
rs794729311 |
GTAGTT>A |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, intron variant |
|
rs794729390 |
->GAGCT |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs796314079 |
C>A |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs797046060 |
GC>T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant |
|
rs797046064 |
CAAA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs866407525 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Genic upstream transcript variant, coding sequence variant, intron variant, genic downstream transcript variant, synonymous variant |
|
rs869025556 |
->T |
Likely-pathogenic, uncertain-significance |
Genic upstream transcript variant, coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant |
|
rs869238992 |
T>A |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs869312037 |
CA>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs869312038 |
TG>- |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant |
|
rs869312039 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained, intron variant, genic downstream transcript variant |
|
rs869312040 |
C>- |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant |
|
rs869312041 |
C>- |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant, intron variant |
|
rs869312042 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs869312043 |
G>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs869312044 |
C>- |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs869312045 |
->T |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs869312046 |
A>C |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs869312099 |
C>T |
Pathogenic, uncertain-significance |
Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant |
|
rs869312102 |
C>T |
Likely-pathogenic, uncertain-significance |
Genic upstream transcript variant, coding sequence variant, stop gained, intron variant, genic downstream transcript variant |
|
rs869312103 |
C>A |
Likely-pathogenic, uncertain-significance |
Genic upstream transcript variant, coding sequence variant, stop gained, intron variant, genic downstream transcript variant |
|
rs869312104 |
T>- |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant |
|
rs869312105 |
A>C,G |
Likely-pathogenic |
Coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant |
|
rs869312106 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs876657663 |
CGTGTAA>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs876657664 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs876657673 |
->A |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, stop gained, intron variant, genic downstream transcript variant |
|
rs878854299 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, coding sequence variant, stop gained, intron variant, missense variant, genic downstream transcript variant |
|
rs878854369 |
C>G |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs878854370 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, intron variant |
|
rs878854371 |
TTTC>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs878903172 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, coding sequence variant, intron variant, genic downstream transcript variant, synonymous variant |
|
rs878915517 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, coding sequence variant, intron variant, genic downstream transcript variant, synonymous variant |
|
rs879103814 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, synonymous variant |
|
rs886037909 |
A>G |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, missense variant |
|
rs886042283 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant |
|
rs886042511 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, genic downstream transcript variant |
|
rs886042543 |
A>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant |
|
rs886042667 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, genic downstream transcript variant |
|
rs886044076 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, intron variant, synonymous variant, genic downstream transcript variant |
|
rs886044306 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, genic upstream transcript variant, intron variant, missense variant, genic downstream transcript variant |
|
rs901197333 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant, coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, missense variant |
|
rs1025136671 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, genic downstream transcript variant, intron variant |
|
rs1029227575 |
T>A |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs1057518065 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1057519160 |
C>T |
Likely-pathogenic |
Intron variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, stop gained |
|
rs1057519237 |
G>A,C |
Likely-pathogenic |
Intron variant, genic downstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, stop gained |
|
rs1060500405 |
G>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1060500549 |
C>G |
Uncertain-significance, pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs1060503946 |
T>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant |
|
rs1114167333 |
CA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1198364572 |
->T |
Likely-pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant, intron variant, genic downstream transcript variant |
|
rs1198504900 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic upstream transcript variant, coding sequence variant, intron variant, genic downstream transcript variant |
|
rs1228771607 |
A>G,T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant, intron variant |
|
rs1266489077 |
T>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant, genic upstream transcript variant, intron variant |
|
rs1353528319 |
C>T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs1389908421 |
C>T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant, genic upstream transcript variant, intron variant |
|
rs1408345511 |
G>- |
Likely-pathogenic |
Frameshift variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, intron variant |
|
rs1454950897 |
->T |
Likely-pathogenic |
Coding sequence variant, intron variant, frameshift variant, genic upstream transcript variant |
|
rs1553741321 |
->T |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553741531 |
C>A |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1553742630 |
->C |
Uncertain-significance, likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553754743 |
->T |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1553775212 |
TTTCT>- |
Likely-pathogenic |
Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant |
|
rs1553809971 |
G>- |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, genic upstream transcript variant, intron variant, coding sequence variant |
|
rs1553852989 |
C>A |
Likely-pathogenic |
Splice donor variant, intron variant, genic upstream transcript variant, genic downstream transcript variant |
|
rs1553882262 |
AG>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, genic upstream transcript variant, intron variant, coding sequence variant |
|
rs1553908254 |
G>C |
Likely-pathogenic |
Stop gained, genic downstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant |
|
rs1553909995 |
TA>- |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, genic upstream transcript variant, intron variant, coding sequence variant |
|
rs1553915256 |
C>T |
Pathogenic |
Splice donor variant, intron variant, genic upstream transcript variant, genic downstream transcript variant |
|
rs1553939749 |
GGGAGATGGTT>- |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, genic upstream transcript variant, intron variant, coding sequence variant |
|
rs1554015228 |
C>T |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1554023044 |
T>A |
Likely-pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant |
|
rs1554042042 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant |
|
rs1559873786 |
GATGTAT>- |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1559877046 |
T>A,C |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, genic downstream transcript variant, stop gained |
|
rs1560513651 |
C>G |
Pathogenic |
Splice acceptor variant, genic upstream transcript variant, genic downstream transcript variant, intron variant |
|
rs1560689563 |
A>G |
Likely-pathogenic |
Coding sequence variant, intron variant, genic downstream transcript variant, genic upstream transcript variant, missense variant |
|
rs1561445221 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs1574066113 |
C>- |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, frameshift variant, intron variant |
|
rs1574083547 |
GT>- |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, frameshift variant, intron variant |
|
rs1574087037 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant, genic downstream transcript variant, intron variant |
|
rs1574570125 |
G>C |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, stop gained |
|
rs1574817395 |
A>G |
Pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs1574982376 |
C>T |
Pathogenic |
Splice donor variant, genic upstream transcript variant |
|
rs1574990483 |
->A |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs1576608220 |
CA>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1576685753 |
->AGGC |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1576742510 |
C>A |
Likely-pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1577134819 |
T>C |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs1577824925 |
C>A |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant, intron variant, genic upstream transcript variant |
|
rs1578126437 |
G>A |
Pathogenic |
Intron variant, stop gained, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant |
|
rs1578175759 |
->AAAG |
Likely-pathogenic |
Intron variant, inframe indel, stop gained, genic downstream transcript variant, coding sequence variant, genic upstream transcript variant |