NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp)Pathogenic
Xeroderma pigmentosum, type F/Cockayne syndrome|Cockayne syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q|XFE progeroid syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q|Xeroderma pigmentosum|ERCC4-related disorder|Autosomal recessive cerebellar ataxia
β
β
ββ2026β Residue 589
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter)Pathogenic
Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q;Cockayne syndrome|XFE progeroid syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q|not provided
β
β
ββ2025β Residue 459
NM_005236.3(ERCC4):c.1402del (p.Arg468fs)Pathogenic
Cockayne syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q|XFE progeroid syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q
β
β
ββ2025β Residue 468
NM_005236.3(ERCC4):c.1349G>A (p.Trp450Ter)Pathogenic
XFE progeroid syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q|Fanconi anemia complementation group Q
β
β
ββ2025β Residue 450
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)Pathogenic
Cockayne syndrome;Fanconi anemia complementation group Q;Xeroderma pigmentosum, group F|not provided|ERCC4-Related Disorders
β
β
ββ2025β Residue 193
NM_005236.3(ERCC4):c.1102+1G>TLikely pathogenic
Xeroderma pigmentosum, group F;Cockayne syndrome;Fanconi anemia complementation group Q|Xeroderma pigmentosum
β
β
ββ2025
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs)Pathogenic
not provided|Cockayne syndrome;Fanconi anemia complementation group Q;Xeroderma pigmentosum, group F
β
β
ββ2025β Residue 400
NM_005236.3(ERCC4):c.1417dup (p.Gln473fs)Pathogenic
Xeroderma pigmentosum, group F|Xeroderma pigmentosum, group F;Cockayne syndrome;Fanconi anemia complementation group Q
β
β
ββ2025β Residue 473
NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs)Pathogenic
Fanconi anemia complementation group Q|Precursor B-cell acute lymphoblastic leukemia|Cockayne syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q
β
β
ββ2025β Residue 495
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)Likely pathogenic
Fanconi anemia complementation group Q|Cockayne syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q|not provided|XFE progeroid syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q|ERCC4-Related Disorders
β
β
ββ2024β Residue 689
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs)Pathogenic
Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q;Cockayne syndrome|not provided
β
β
ββ2024β Residue 628
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter)Pathogenic
Fanconi anemia complementation group Q;Cockayne syndrome;Xeroderma pigmentosum, group F|not provided|Fanconi anemia complementation group Q;Xeroderma pigmentosum, group F;XFE progeroid syndrome
β
β
ββ2024β Residue 723
NM_005236.3(ERCC4):c.915del (p.Asn308fs)Pathogenic
not provided|Fanconi anemia complementation group Q;Xeroderma pigmentosum, group F;Cockayne syndrome|XFE progeroid syndrome;Fanconi anemia complementation group Q;Xeroderma pigmentosum, group F
β
β
ββ2024β Residue 308
NM_005236.3(ERCC4):c.938dup (p.Arg314fs)Pathogenic
Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q;Cockayne syndrome|XFE progeroid syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q
β
β
ββ2024β Residue 314
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs)Pathogenic
Cockayne syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q|Xeroderma pigmentosum, group F
β
β
ββ2023β Residue 186
NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg)Pathogenic
Xeroderma pigmentosum, type F/Cockayne syndrome|not provided|Xeroderma pigmentosum, group F
β
β
ββ2023β Residue 236
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter)Pathogenic
Xeroderma pigmentosum, type F/Cockayne syndrome|Spastic ataxia|Cockayne syndrome;Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q
β
β
ββ2021β Residue 577
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter)Pathogenic
Xeroderma pigmentosum, group F;Fanconi anemia complementation group Q;Cockayne syndrome
β
βββ2026β Residue 296
NM_005236.3(ERCC4):c.2074C>T (p.Arg692Ter)Pathogenic
Xeroderma pigmentosum, group F;Cockayne syndrome;Fanconi anemia complementation group Q
β
βββ2025β Residue 692
NM_005236.3(ERCC4):c.2314C>T (p.Arg772Ter)Pathogenic
Xeroderma pigmentosum, group F;Cockayne syndrome;Fanconi anemia complementation group Q
β
βββ2025β Residue 772