Variants of ABCA3 located in coding regions
! These entries do not include the mined mutations.| Variation | Location | Effect | Review status | URL |
|---|---|---|---|---|
| p.Leu101Pro | exon 5 | D | Pathogenic | ClinVar |
| p.Asp123Asn | exon 6 | N | Likely benign | ClinVar |
| p.Val150= | exon 7 | N | Benign | ClinVar |
| p.Gly205Arg | exon 7 | ? | not provided | ClinVar |
| p.Ala227= | exon 8 | N | Benign | ClinVar |
| p.Glu292Val | exon 9 | D | Likely pathogenic | ClinVar |
| p.Leu326Pro | exon 9 | D | Pathogenic | ClinVar |
| p.Phe353= | exon 10 | N | Benign | ClinVar |
| p.Ala501Glu | exon 13 | ? | Uncertain significance | ClinVar |
| p.Glu517Lys | exon 13 | ? | Uncertain significance | ClinVar |
| p.Asn568Asp | exon 14 | D | Pathogenic | ClinVar |
| p.Pro585= | exon 15 | N | Benign | ClinVar |
| p.Gly668Asp | exon 16 | ? | not provided | ClinVar |
| p.Asp696Asn | exon 17 | ? | Uncertain significance | ClinVar |
| p.Arg709Trp | exon 17 | ? | Uncertain significance | ClinVar |
| p.Ile733= | exon 17 | N | Likely benign | ClinVar |
| p.Pro766Ser | exon 18 | ? | Uncertain significance | ClinVar |
| p.Ala823Pro | exon 19 | ? | not provided | ClinVar |
| p.Arg892His | exon 20 | ? | Uncertain significance | ClinVar |
| p.Trp1142* | exon 23 | D | Pathogenic | ClinVar |
| p.Phe1441Ser | exon 28 | ? | not provided | ClinVar |
| p.Asp1539= | exon 30 | N | Likely benign | ClinVar |
| p.Leu1553Pro | exon 30 | D | Pathogenic | ClinVar |
| p.Thr1556= | exon 30 | N | Likely benign | ClinVar |
| p.Gln1591Pro | exon 31 | D | Pathogenic | ClinVar |
| p.Gly1608Cys | exon 31 | ? | not provided | ClinVar |