Variants of ABCC9 located in coding regions
! These entries do not include the mined mutations.| Variation | Location | Effect | Review status | URL |
|---|---|---|---|---|
| p.Asn16Ser | exon 1 | ? | Uncertain significance | ClinVar |
| p.Asn16= | exon 1 | N | Likely benign | ClinVar |
| p.Val32= | exon 1 | N | Likely benign | ClinVar |
| p.Gln57* | exon 2 | ? | Uncertain significance | ClinVar |
| p.His60Tyr | exon 2 | D | Pathogenic | ClinVar |
| p.Arg96Gln | exon 3 | ? | Conflicting interpretations of pathogenicity | ClinVar |
| p.Arg97Trp | exon 3 | ? | Uncertain significance | ClinVar |
| p.Asn124= | exon 3 | N | Likely benign | ClinVar |
| p.Lys132Arg | exon 3 | ? | Uncertain significance | ClinVar |
| p.Tyr140= | exon 4 | N | Likely benign | ClinVar |
| p.Arg192Lys | exon 5 | ? | Uncertain significance | ClinVar |
| p.Cys263= | exon 5 | N | Benign | ClinVar |
| p.Asp266= | exon 5 | N | Benign | ClinVar |
| p.Leu306= | exon 6 | N | Likely benign | ClinVar |
| p.Asp308= | exon 6 | N | Benign | ClinVar |
| p.Tyr352= | exon 7 | N | Benign | ClinVar |
| p.Ala355Ser | exon 7 | ? | Uncertain significance | ClinVar |
| p.Ile381Asn | exon 7 | ? | Uncertain significance | ClinVar |
| p.Thr400= | exon 8 | N | Likely benign | ClinVar |
| p.Ala418Thr | exon 8 | ? | Uncertain significance | ClinVar |
| p.Pro432= | exon 8 | N | Likely benign | ClinVar |
| p.Gly453Ala | exon 9 | ? | Uncertain significance | ClinVar |
| p.Ala478Val | exon 9 | D | Pathogenic | ClinVar |
| p.Glu519= | exon 10 | N | Likely benign | ClinVar |
| p.Tyr535His | exon 10 | ? | Conflicting interpretations of pathogenicity | ClinVar |
| p.Ala559= | exon 12 | N | Benign/Likely benign | ClinVar |
| p.Asp616= | exon 13 | N | Benign | ClinVar |
| p.Asp617Asn | exon 13 | ? | Uncertain significance | ClinVar |
| p.Ser625= | exon 13 | N | Likely benign | ClinVar |
| p.Glu629Asp | exon 13 | ? | Conflicting interpretations of pathogenicity | ClinVar |
| p.Val637Ile | exon 13 | ? | Uncertain significance | ClinVar |
| p.Arg660Trp | exon 14 | D | Likely pathogenic | ClinVar |
| p.Arg661Cys | exon 14 | ? | Uncertain significance | ClinVar |
| p.Arg661His | exon 14 | ? | Uncertain significance | ClinVar |
| p.Arg663Cys | exon 14 | ? | Uncertain significance | ClinVar |
| p.Thr667Lys | exon 14 | ? | Uncertain significance | ClinVar |
| p.Lys673= | exon 14 | ? | Uncertain significance | ClinVar |
| p.Gly684Ser | exon 15 | ? | Conflicting interpretations of pathogenicity | ClinVar |
| p.Ser689Phe | exon 15 | ? | Uncertain significance | ClinVar |
| p.Arg694Gln | exon 15 | ? | Uncertain significance | ClinVar |
| p.Ala717Thr | exon 16 | ? | Uncertain significance | ClinVar |
| p.Ile718= | exon 16 | N | Likely benign | ClinVar |
| p.Asn733Asp | exon 16 | ? | Uncertain significance | ClinVar |
| p.Val734Ile | exon 17 | ? | Conflicting interpretations of pathogenicity | ClinVar |
| p.Pro739Ala | exon 17 | ? | Uncertain significance | ClinVar |
| p.Tyr754= | exon 18 | N | Benign/Likely benign | ClinVar |
| p.Ala825= | exon 20 | N | Benign | ClinVar |
| p.Ala841= | exon 21 | N | Benign/Likely benign | ClinVar |
| p.Gln852* | exon 21 | D | Likely pathogenic | ClinVar |
| p.Thr877= | exon 21 | N | Benign/Likely benign | ClinVar |
| p.Arg938Gln | exon 23 | ? | Uncertain significance | ClinVar |
| p.Arg939Trp | exon 23 | D | Likely pathogenic | ClinVar |
| p.Tyr942= | exon 23 | N | Benign | ClinVar |
| p.Asp954= | exon 23 | N | Benign | ClinVar |
| p.Pro978Thr | exon 24 | ? | Uncertain significance | ClinVar |
| p.His1005Leu | exon 24 | D | Likely pathogenic | ClinVar |
| p.Ser1020Pro | exon 24 | D | Pathogenic | ClinVar |
| p.Cys1043Tyr | exon 25 | D | Pathogenic | ClinVar |
| p.Phe1096= | exon 26 | N | Likely benign | ClinVar |
| p.Thr1100Ile | exon 26 | ? | Uncertain significance | ClinVar |
| p.Ile1107= | exon 27 | N | Benign | ClinVar |
| p.Ser1113= | exon 27 | N | Likely benign | ClinVar |
| p.Arg1116Cys | exon 27 | D | Pathogenic | ClinVar |
| p.Arg1116His | exon 27 | D | Pathogenic | ClinVar |
| p.Val1137Ile | exon 27 | N | Benign | ClinVar |
| p.Arg1154Trp | exon 27 | D | Pathogenic | ClinVar |
| p.Arg1154Gln | exon 27 | D | Pathogenic | ClinVar |
| p.His1174Tyr | exon 28 | D | Likely pathogenic | ClinVar |
| p.Arg1186Gln | exon 28 | ? | Uncertain significance | ClinVar |
| p.Met1198Ile | exon 29 | ? | Uncertain significance | ClinVar |
| p.Thr1202Ala | exon 29 | ? | Uncertain significance | ClinVar |
| p.Thr1223Met | exon 29 | ? | Uncertain significance | ClinVar |
| p.Thr1223= | exon 29 | ? | Uncertain significance | ClinVar |
| p.Leu1256= | exon 30 | N | Benign/Likely benign | ClinVar |
| p.Tyr1261* | exon 31 | ? | Uncertain significance | ClinVar |
| p.Pro1299Leu | exon 32 | ? | Uncertain significance | ClinVar |
| p.Val1319Ile | exon 32 | ? | Uncertain significance | ClinVar |
| p.Ser1354= | exon 33 | N | Likely benign | ClinVar |
| p.Arg1386His | exon 34 | ? | Uncertain significance | ClinVar |
| p.Val1451Ala | exon 36 | ? | Uncertain significance | ClinVar |
| p.Gln1455= | exon 36 | N | Likely benign | ClinVar |
| p.Ile1479= | exon 36 | N | Likely benign | ClinVar |
| p.Val1490= | exon 37 | N | Likely benign | ClinVar |
| p.Arg1506Cys | exon 38 | ? | Uncertain significance | ClinVar |
| p.Ala1513Thr | exon 38 | D | Pathogenic | ClinVar |
| p.Asn1523= | exon 38 | N | Likely benign | ClinVar |
| p.Leu1524Ile | exon 38 | N | Likely benign | ClinVar |
| p.Leu1524* | exon 38 | N | Likely benign | ClinVar |
| p.Ala1535Thr | exon 38 | ? | Uncertain significance | ClinVar |
| p.Asn1538Ser | exon 38 | ? | Uncertain significance | ClinVar |
| p.Thr1547Ile | exon 38 | D | Pathogenic | ClinVar |