Variants of ABCC2 located in coding regions
! These entries do not include the mined mutations.
Variation |
Location |
Effect |
Review status |
URL |
p.Val86= |
exon 3 |
? |
Uncertain significance |
ClinVar |
p.Ser281Asn |
exon 7 |
N |
Likely benign |
ClinVar |
p.Lys495Glu |
exon 11 |
N |
Benign |
ClinVar |
p.Gly758Val |
exon 18 |
D |
Likely pathogenic |
ClinVar |
p.Arg768Trp |
exon 18 |
D |
Pathogenic |
ClinVar |
p.Leu784= |
exon 18 |
? |
Uncertain significance |
ClinVar |
p.Tyr967* |
exon 22 |
D |
Pathogenic |
ClinVar |
p.Ile1009Thr |
exon 22 |
N |
Benign |
ClinVar |
p.Ile1036Thr |
exon 23 |
N |
Benign |
ClinVar |
p.Arg1066* |
exon 23 |
D |
Pathogenic |
ClinVar |
p.Val1127Ile |
exon 24 |
? |
Uncertain significance |
ClinVar |
p.Ile1173Phe |
exon 25 |
D |
Pathogenic |
ClinVar |
p.Arg1181Leu |
exon 25 |
N |
Benign |
ClinVar |
p.Pro1291Leu |
exon 28 |
N |
Benign |
ClinVar |
p.Ile1324= |
exon 28 |
N |
Benign |
ClinVar |
p.Ile1359Leu |
exon 29 |
? |
Uncertain significance |
ClinVar |
p.Gln1382Arg |
exon 29 |
D |
Pathogenic |
ClinVar |
p.Met1393Ile |
exon 30 |
? |
Uncertain significance |
ClinVar |
p.Ser1438= |
exon 31 |
? |
Uncertain significance |
ClinVar |
p.Asn1509= |
exon 32 |
N |
Benign |
ClinVar |