NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)Pathogenic
not provided|Xeroderma pigmentosum group B|Xeroderma pigmentosum|Xeroderma pigmentosum group B;Trichothiodystrophy 2, photosensitive|ERCC3-related disorder|Hereditary cancer-predisposing syndrome
★★☆☆2026→ Residue 109
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter)Pathogenic
not provided|Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum group B|Xeroderma pigmentosum
★★☆☆2026→ Residue 374
NM_000122.2(ERCC3):c.1354C>T (p.Arg452Ter)Pathogenic
Xeroderma pigmentosum group B|not provided|Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum group B
★★☆☆2026→ Residue 452
NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter)Pathogenic
not provided|Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum group B
★★☆☆2026→ Residue 388
NM_000122.2(ERCC3):c.1757del (p.Gln586fs)Pathogenic
not provided|Xeroderma pigmentosum|Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum group B|Trichothiodystrophy 2, photosensitive|Inborn genetic diseases
★★☆☆2026→ Residue 586
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)Pathogenic
Xeroderma pigmentosum group B|not specified|not provided|Xeroderma pigmentosum|Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum group B|ERCC3-related disorder
★★☆☆2025→ Residue 474
NM_000122.2(ERCC3):c.1757_1758del (p.Gln586fs)Pathogenic
not provided|ERCC3-related disorder|Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum group B
★★☆☆2025→ Residue 586
NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter)Pathogenic
not provided|Xeroderma pigmentosum group B|Inborn genetic diseases|Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum group B
★★☆☆2025→ Residue 711
NM_000122.2(ERCC3):c.1735del (p.Tyr579fs)Pathogenic
not provided
★★☆☆2025→ Residue 579
NM_000122.2(ERCC3):c.657+1G>ALikely pathogenic
not provided|Xeroderma pigmentosum|Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum group B|Thyroid cancer, nonmedullary, 1
★★☆☆2025
NM_000122.2(ERCC3):c.471+1G>APathogenic
Xeroderma pigmentosum group B|Xeroderma pigmentosum|not provided
★★☆☆2025
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter)Pathogenic
Xeroderma pigmentosum group B|not provided|Inborn genetic diseases|Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum group B|Trichothiodystrophy 2, photosensitive
★★☆☆2024→ Residue 425
NM_000122.2(ERCC3):c.583C>T (p.Arg195Ter)Pathogenic
Xeroderma pigmentosum group B|not provided|Xeroderma pigmentosum
★★☆☆2024→ Residue 195
NM_000122.2(ERCC3):c.1828-1G>CLikely pathogenic
not provided|Xeroderma pigmentosum group B;Trichothiodystrophy 2, photosensitive
★★☆☆2024
NM_000122.2(ERCC3):c.760C>T (p.Gln254Ter)Pathogenic
Xeroderma pigmentosum group B|not provided
★★☆☆2024→ Residue 254
NM_000122.2(ERCC3):c.1588C>T (p.Arg530Ter)Pathogenic
not provided|Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum group B
★★☆☆2024→ Residue 530
NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter)Pathogenic
not provided|Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum group B
★★☆☆2024→ Residue 574
NM_000122.2(ERCC3):c.1300G>T (p.Glu434Ter)Pathogenic
Xeroderma pigmentosum group B|Xeroderma pigmentosum|not provided|Xeroderma pigmentosum group B;Trichothiodystrophy 2, photosensitive
★★☆☆2024→ Residue 434
NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter)Pathogenic
Xeroderma pigmentosum group B|not provided
★★☆☆2022→ Residue 154
NM_000122.2(ERCC3):c.335dup (p.His112fs)Pathogenic
not provided
★☆☆☆2026→ Residue 112