1 |
ABCG5 |
NM_022436.3(ABCG5):c.-76C>T |
SNV |
Pathogenic
|
1321322 |
|
GRCh37: 2:44065894-44065894 GRCh38: 2:43838755-43838755 |
2 |
ABCG8 |
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) |
SNV |
Pathogenic
|
4969 |
rs137852989 |
GRCh37: 2:44105004-44105004 GRCh38: 2:43877865-43877865 |
3 |
ABCG8 |
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) |
SNV |
Pathogenic
|
4970 |
rs137852990 |
GRCh37: 2:44079831-44079831 GRCh38: 2:43852692-43852692 |
4 |
ABCG8 |
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) |
SNV |
Pathogenic
Pathogenic
|
4972 |
rs137852991 |
GRCh37: 2:44100948-44100948 GRCh38: 2:43873809-43873809 |
5 |
ABCG8 |
NM_022437.3(ABCG8):c.1787T>G (p.Leu596Arg) |
SNV |
Pathogenic
|
4973 |
rs137852992 |
GRCh37: 2:44104730-44104730 GRCh38: 2:43877591-43877591 |
6 |
ABCG8 |
NM_022437.3(ABCG8):c.691C>A (p.Pro231Thr) |
SNV |
Pathogenic
|
4974 |
rs137852993 |
GRCh37: 2:44079622-44079622 GRCh38: 2:43852483-43852483 |
7 |
ABCG8 |
NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter) |
SNV |
Pathogenic
|
39520 |
rs137854891 |
GRCh37: 2:44073448-44073448 GRCh38: 2:43846309-43846309 |
8 |
ABCG8 |
NM_022437.3(ABCG8):c.904C>T (p.Gln302Ter) |
SNV |
Pathogenic
|
972743 |
rs1668974150 |
GRCh37: 2:44079947-44079947 GRCh38: 2:43852808-43852808 |
9 |
ABCG8 |
NM_022437.3(ABCG8):c.556A>T (p.Lys186Ter) |
SNV |
Pathogenic
|
1322575 |
|
GRCh37: 2:44078956-44078956 GRCh38: 2:43851817-43851817 |
10 |
ABCG8 |
NM_022437.3(ABCG8):c.361C>T (p.Arg121Ter) |
SNV |
Pathogenic
|
1322586 |
|
GRCh37: 2:44078761-44078761 GRCh38: 2:43851622-43851622 |
11 |
ABCG8 |
NM_022437.3(ABCG8):c.120C>A (p.Tyr40Ter) |
SNV |
Pathogenic
|
500779 |
rs1000291485 |
GRCh37: 2:44071702-44071702 GRCh38: 2:43844563-43844563 |
12 |
ABCG8 |
NM_022437.3(ABCG8):c.965-1G>C |
SNV |
Pathogenic
Uncertain Significance
|
546173 |
rs957176669 |
GRCh37: 2:44099114-44099114 GRCh38: 2:43871975-43871975 |
13 |
ABCG8 |
NM_022437.3(ABCG8):c.881T>G (p.Leu294Ter) |
SNV |
Pathogenic
|
1684427 |
|
GRCh37: 2:44079924-44079924 GRCh38: 2:43852785-43852785 |
14 |
ABCG8 |
NM_022437.3(ABCG8):c.1752G>A (p.Trp584Ter) |
SNV |
Pathogenic
|
1698995 |
|
GRCh37: 2:44102548-44102548 GRCh38: 2:43875409-43875409 |
15 |
ABCG8 |
NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter) |
SNV |
Pathogenic
|
499930 |
rs544500542 |
GRCh37: 2:44102404-44102404 GRCh38: 2:43875265-43875265 |
16 |
ABCG8 |
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) |
SNV |
Pathogenic
Pathogenic/Likely Pathogenic
|
4967 |
rs137852987 |
GRCh37: 2:44099233-44099233 GRCh38: 2:43872094-43872094 |
17 |
ABCG8 |
NM_022437.3(ABCG8):c.547del (p.Gln183fs) |
DEL |
Pathogenic
|
4971 |
rs387906323 |
GRCh37: 2:44078945-44078945 GRCh38: 2:43851806-43851806 |
18 |
ABCG5, DYNC2LI1 |
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) |
SNV |
Pathogenic
Pathogenic
|
30485 |
rs199689137 |
GRCh37: 2:44050063-44050063 GRCh38: 2:43822924-43822924 |
19 |
ABCG5, DYNC2LI1 |
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) |
SNV |
Pathogenic
|
4980 |
rs119480069 |
GRCh37: 2:44051210-44051210 GRCh38: 2:43824071-43824071 |
20 |
ABCG5, DYNC2LI1 |
NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter) |
SNV |
Pathogenic
|
1120119 |
|
GRCh37: 2:44053544-44053544 GRCh38: 2:43826405-43826405 |
21 |
ABCG5, DYNC2LI1 |
NM_022436.3(ABCG5):c.1138del (p.Leu379_Val380insTer) |
DEL |
Pathogenic
|
1437547 |
|
GRCh37: 2:44051238-44051238 GRCh38: 2:43824099-43824099 |
22 |
ABCG5, DYNC2LI1 |
NM_022436.3(ABCG5):c.1890del (p.Phe630fs) |
DEL |
Pathogenic
|
1684420 |
|
GRCh37: 2:44040321-44040321 GRCh38: 2:43813182-43813182 |
23 |
ABCG5, DYNC2LI1 |
NM_022436.3(ABCG5):c.575del (p.Gly192fs) |
DEL |
Pathogenic
|
817282 |
rs762031825 |
GRCh37: 2:44055181-44055181 GRCh38: 2:43828042-43828042 |
24 |
ABCG5, DYNC2LI1 |
NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg) |
SNV |
Pathogenic
Uncertain Significance
|
1046346 |
rs143740796 |
GRCh37: 2:44051562-44051562 GRCh38: 2:43824423-43824423 |
25 |
ABCG8 |
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) |
SNV |
Pathogenic/Likely Pathogenic
Likely Pathogenic
|
4968 |
rs137852988 |
GRCh37: 2:44102516-44102516 GRCh38: 2:43875377-43875377 |
26 |
ABCG5, DYNC2LI1 |
NM_022436.3(ABCG5):c.978del (p.Glu326fs) |
DEL |
Pathogenic/Likely Pathogenic
|
222478 |
rs869025350 |
GRCh37: 2:44051498-44051498 GRCh38: 2:43824359-43824359 |
27 |
ABCG8 |
NM_022437.3(ABCG8):c.562-1G>A |
SNV |
Likely Pathogenic
|
1698806 |
|
GRCh37: 2:44079492-44079492 GRCh38: 2:43852353-43852353 |
28 |
ABCG8 |
NM_022437.3(ABCG8):c.965-1G>A |
SNV |
Likely Pathogenic
|
517640 |
rs957176669 |
GRCh37: 2:44099114-44099114 GRCh38: 2:43871975-43871975 |
29 |
ABCG5 |
NC_000002.11:g.(?_44047116)_44053814del |
DEL |
Likely Pathogenic
|
1067880 |
|
GRCh37: GRCh38: |
30 |
ABCG5, DYNC2LI1 |
NM_022436.3(ABCG5):c.634+1G>A |
SNV |
Likely Pathogenic
|
1068115 |
|
GRCh37: 2:44055121-44055121 GRCh38: 2:43827982-43827982 |
31 |
ABCG5, DYNC2LI1 |
NM_022436.3(ABCG5):c.1323_1324+2del |
DEL |
Likely Pathogenic
|
1468263 |
|
GRCh37: 2:44051050-44051053 GRCh38: 2:43823911-43823914 |
32 |
ABCG5, DYNC2LI1 |
NM_022436.3(ABCG5):c.635-153_1588del |
DEL |
Likely Pathogenic
|
943877 |
|
GRCh37: 2:44047115-44053813 GRCh38: 2:43819976-43826674 |
33 |
ABCG5, DYNC2LI1 |
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) |
SNV |
Conflicting Interpretations Of Pathogenicity
Uncertain Significance
|
284636 |
rs141828689 |
GRCh37: 2:44055163-44055163 GRCh38: 2:43828024-43828024 |
34 |
ABCG5, DYNC2LI1 |
NM_022436.3(ABCG5):c.905-3dup |
DUP |
Conflicting Interpretations Of Pathogenicity
|
336045 |
rs142037828 |
GRCh37: 2:44051573-44051574 GRCh38: 2:43824434-43824435 |
35 |
ABCG8 |
NM_022437.3(ABCG8):c.342G>A (p.Leu114=) |
SNV |
Uncertain Significance
|
336068 |
rs150970273 |
GRCh37: 2:44078742-44078742 GRCh38: 2:43851603-43851603 |
36 |
ABCG8 |
NM_022437.3(ABCG8):c.1212-7T>A |
SNV |
Uncertain Significance
|
501909 |
rs759300542 |
GRCh37: 2:44100919-44100919 GRCh38: 2:43873780-43873780 |
37 |
ABCG8 |
NM_022437.3(ABCG8):c.1206G>C (p.Leu402=) |
SNV |
Uncertain Significance
|
895180 |
rs1041083656 |
GRCh37: 2:44099440-44099440 GRCh38: 2:43872301-43872301 |
38 |
ABCG8 |
NM_022437.3(ABCG8):c.175G>T (p.Ala59Ser) |
SNV |
Uncertain Significance
|
895098 |
rs779861537 |
GRCh37: 2:44073303-44073303 GRCh38: 2:43846164-43846164 |
39 |
ABCG5 |
NM_022436.3(ABCG5):c.281C>G (p.Thr94Arg) |
SNV |
Uncertain Significance
Uncertain Significance
|
336053 |
rs558993616 |
GRCh37: 2:44059207-44059207 GRCh38: 2:43832068-43832068 |
40 |
ABCG8 |
NM_022437.3(ABCG8):c.1569A>G (p.Pro523=) |
SNV |
Uncertain Significance
|
336085 |
rs575386215 |
GRCh37: 2:44102365-44102365 GRCh38: 2:43875226-43875226 |
41 |
ABCG5, DYNC2LI1 |
NM_022436.3(ABCG5):c.1850C>G (p.Thr617Arg) |
SNV |
Uncertain Significance
|
336035 |
rs528636525 |
GRCh37: 2:44040361-44040361 GRCh38: 2:43813222-43813222 |
42 |
ABCG8 |
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys) |
SNV |
Uncertain Significance
Uncertain Significance
|
291264 |
rs34754243 |
GRCh37: 2:44079755-44079755 GRCh38: 2:43852616-43852616 |
43 |
ABCG5, DYNC2LI1 |
NM_022436.3(ABCG5):c.1569C>T (p.Ile523_Val524=) |
SNV |
Uncertain Significance
Likely Benign
|
336037 |
rs376969021 |
GRCh37: 2:44047134-44047134 GRCh38: 2:43819995-43819995 |
44 |
ABCG8 |
NM_022437.3(ABCG8):c.1858C>T (p.Leu620Phe) |
SNV |
Uncertain Significance
|
899332 |
rs746858868 |
GRCh37: 2:44104801-44104801 GRCh38: 2:43877662-43877662 |
45 |
ABCG8 |
NM_022437.3(ABCG8):c.1743C>A (p.Ser581Arg) |
SNV |
Uncertain Significance
|
899331 |
rs750730480 |
GRCh37: 2:44102539-44102539 GRCh38: 2:43875400-43875400 |
46 |
ABCG8 |
NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met) |
SNV |
Uncertain Significance
|
287003 |
rs140778634 |
GRCh37: 2:44099244-44099244 GRCh38: 2:43872105-43872105 |
47 |
ABCG8 |
NM_022437.3(ABCG8):c.168G>A (p.Val56=) |
SNV |
Uncertain Significance
|
899217 |
rs973149684 |
GRCh37: 2:44073296-44073296 GRCh38: 2:43846157-43846157 |
48 |
ABCG8 |
NM_022437.3(ABCG8):c.76A>G (p.Arg26Gly) |
SNV |
Uncertain Significance
|
498839 |
rs138925418 |
GRCh37: 2:44071658-44071658 GRCh38: 2:43844519-43844519 |
49 |
ABCG5 |
NM_022436.3(ABCG5):c.151G>A (p.Val51Met) |
SNV |
Uncertain Significance
|
899153 |
rs551349294 |
GRCh37: 2:44065087-44065087 GRCh38: 2:43837948-43837948 |
50 |
ABCG5 |
NM_022436.3(ABCG5):c.207C>G (p.Leu69=) |
SNV |
Uncertain Significance
|
899152 |
rs866321664 |
GRCh37: 2:44065031-44065031 GRCh38: 2:43837892-43837892 |