Variants of ABCC8 located in coding regions
! These entries do not include the mined mutations.| Variation | Location | Effect | Review status | URL |
|---|---|---|---|---|
| p.Pro69= | exon 2 | N | Benign/Likely benign | ClinVar |
| p.Val86Ala | exon 2 | D | Pathogenic | ClinVar |
| p.Ala110= | exon 3 | N | Likely benign | ClinVar |
| p.Phe132Val | exon 3 | D | Pathogenic/Likely pathogenic | ClinVar |
| p.Leu135Pro | exon 3 | D | Pathogenic | ClinVar |
| p.Val141= | exon 4 | N | Likely benign | ClinVar |
| p.Asp209Glu | exon 5 | D | Pathogenic | ClinVar |
| p.Gln211Lys | exon 5 | D | Pathogenic | ClinVar |
| p.Leu225Pro | exon 5 | D | Pathogenic | ClinVar |
| p.His293Pro | exon 6 | ? | Uncertain significance | ClinVar |
| p.Gly296Arg | exon 6 | D | Likely pathogenic | ClinVar |
| p.Asn386= | exon 7 | N | Likely benign | ClinVar |
| p.Arg521Gln | exon 10 | ? | Uncertain significance | ClinVar |
| p.Thr524= | exon 10 | N | Likely benign | ClinVar |
| p.Phe536Leu | exon 10 | D | Likely pathogenic | ClinVar |
| p.Tyr539Cys | exon 10 | D | Likely pathogenic | ClinVar |
| p.Val560Met | exon 12 | N | Likely benign | ClinVar |
| p.His562= | exon 12 | N | Likely benign | ClinVar |
| p.Pro642= | exon 14 | N | Likely benign | ClinVar |
| p.Lys649= | exon 14 | N | Benign/Likely benign | ClinVar |
| p.Gly716Val | exon 16 | D | Pathogenic | ClinVar |
| p.Thr759= | exon 18 | N | Likely benign | ClinVar |
| p.Leu829= | exon 21 | N | Likely benign | ClinVar |
| p.Arg836* | exon 21 | D | Likely pathogenic | ClinVar |
| p.His846= | exon 21 | N | Likely benign | ClinVar |
| p.Ala871= | exon 22 | ? | Uncertain significance | ClinVar |
| p.Arg933* | exon 23 | D | Likely pathogenic | ClinVar |
| p.Gln953* | exon 24 | D | Likely pathogenic | ClinVar |
| p.Val1174Met | exon 28 | D | Likely pathogenic | ClinVar |
| p.Phe1182Cys | exon 28 | D | Likely pathogenic | ClinVar |
| p.Arg1183Gln | exon 28 | D | Likely pathogenic | ClinVar |
| p.Ala1204= | exon 29 | N | Benign | ClinVar |
| p.Arg1273= | exon 31 | N | Benign/Likely benign | ClinVar |
| p.Ala1369Ser | exon 33 | N | Likely benign | ClinVar |
| p.Arg1380Ser | exon 34 | D | Likely pathogenic | ClinVar |
| p.Arg1380Leu | exon 34 | D | Likely pathogenic | ClinVar |
| p.Phe1392Val | exon 34 | D | Pathogenic | ClinVar |
| p.Gly1401Arg | exon 35 | D | Likely pathogenic | ClinVar |
| p.Arg1437* | exon 36 | D | Pathogenic/Likely pathogenic | ClinVar |
| p.Ile1457Met | exon 36 | D | Likely pathogenic | ClinVar |
| p.Asp1471Asn | exon 36 | D | Likely pathogenic | ClinVar |
| p.Gly1477= | exon 37 | ? | Uncertain significance | ClinVar |
| p.Gly1485Glu | exon 37 | D | Likely pathogenic | ClinVar |
| p.Ile1519Ser | exon 38 | D | Likely pathogenic | ClinVar |
| p.Val1523Met | exon 38 | D | Likely pathogenic | ClinVar |
| p.Val1540Met | exon 39 | D | Likely pathogenic | ClinVar |
| p.Leu1543Pro | exon 39 | D | Likely pathogenic | ClinVar |
| p.Val1572Ile | exon 39 | N | Benign | ClinVar |
| p.Phe1576= | exon 39 | N | Likely benign | ClinVar |