| 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 |
