ERCC4 — 987 ClinVar variants

All ClinVar germline ERCC4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 487 flagged for review →

31 Pathogenic · 14 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 46 Conflicting · 52 Benign · 10 Benign/Likely benign · 261 Likely benign · 552 Uncertain significance

Full ERCC4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 487

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

ERCC4 p.Leu591Val Likely pathogenic Single submitter
ovarian cancer

Predictors agree, ClinVar conflicts 13

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ERCC4 p.Ala109Thr Conflicting Single submitter
xeroderma pigmentosum group F
ERCC4 p.Ala596Glu Conflicting Single submitter
ovarian cancer
ERCC4 p.Arg576Thr Conflicting Single submitter
Inborn genetic diseases
ERCC4 p.Gly912Arg Conflicting Single submitter
xeroderma pigmentosum group F
ERCC4 p.Ile634Met Conflicting Single submitter
Cockayne syndrome
ERCC4 p.Ile706Thr Conflicting Single submitter
Inborn genetic diseases
ERCC4 p.Ile746Val Conflicting Single submitter
xeroderma pigmentosum group F
ERCC4 p.Lys464Ile Conflicting Single submitter
xeroderma pigmentosum group F
ERCC4 p.Lys915Arg Conflicting Single submitter
Inborn genetic diseases
ERCC4 p.Pro379Ser Conflicting Single submitter
xeroderma pigmentosum group F
ERCC4 p.Pro472Leu Conflicting Single submitter
xeroderma pigmentosum group F
ERCC4 p.Tyr344Phe Conflicting Single submitter
xeroderma pigmentosum group F
ERCC4 p.Val536Leu Conflicting Single submitter
xeroderma pigmentosum group F

Predictors lean, ClinVar uncertain 266

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 266

ERCC4 p.Ala13Ser Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Ala13Thr Uncertain significance Multiple submitters
behavioral variant of frontotemporal dementia
ERCC4 p.Ala235Thr Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Ala446Ser Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Ala565Thr Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Ala7Thr Uncertain significance Multiple submitters
Cockayne syndrome
ERCC4 p.Ala874Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ERCC4 p.Arg158Cys Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Arg158His Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Arg515His Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Arg576Ser Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Arg701His Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Arg740Cys Uncertain significance Multiple submitters
Cockayne syndrome
ERCC4 p.Arg9Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ERCC4 p.Asn63His Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Asp664Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ERCC4 p.Cys525Trp Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Gln21Glu Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Gln406Arg Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Glu368Lys Uncertain significance Multiple submitters
Cockayne syndrome
ERCC4 p.Glu456Lys Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Glu517Lys Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Glu527Asp Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Gly159Ser Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Gly403Arg Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Gly559Asp Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Gly659Asp Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Gly703Val Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Gly734Ser Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Gly912Glu Uncertain significance Multiple submitters
Cockayne syndrome
ERCC4 p.His868Pro Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Ile290Met Uncertain significance Multiple submitters
Cockayne syndrome
ERCC4 p.Ile337Val Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Ile553Val Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Ile73Val Uncertain significance Multiple submitters
Inborn genetic diseases
ERCC4 p.Leu313Pro Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Leu401Phe Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Leu580Pro Uncertain significance Multiple submitters
xeroderma pigmentosum
ERCC4 p.Lys364Glu Uncertain significance Multiple submitters
Cockayne syndrome
ERCC4 p.Lys445Thr Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Lys488Arg Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Met12Val Uncertain significance Multiple submitters
XFE progeroid syndrome
ERCC4 p.Met335Val Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Pro404Ser Uncertain significance Multiple submitters
Cockayne syndrome
ERCC4 p.Pro526Leu Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Pro602Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ERCC4 p.Pro696Leu Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Pro763Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ERCC4 p.Ser334Leu Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Ser3Leu Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Ser540Leu Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Ser886Gly Uncertain significance Multiple submitters
Cockayne syndrome
ERCC4 p.Thr552Ile Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Thr660Ile Uncertain significance Multiple submitters
xeroderma pigmentosum
ERCC4 p.Thr827Lys Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Tyr46Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ERCC4 p.Val498Ala Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Val588Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ERCC4 p.Val588Ile Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Val756Met Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Val909Ile Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Ala109Val Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Ala11Val Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Ala224Val Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Ala349Thr Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Ala36Pro Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Ala383Val Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Ala41Gly Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Ala430Asp Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Ala478Thr Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Ala565Gly Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Ala596Val Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Ala661Thr Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Ala67Thr Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Ala7Val Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Ala825Val Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Ala878Ser Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Ala892Thr Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg112Ser Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Arg135Lys Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Arg138Lys Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Arg150Cys Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Arg150Pro Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg153Cys Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Arg153His Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg340Gln Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg415Gly Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg434Lys Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg43Trp Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Arg463Thr Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Arg468Ser Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg490Gln Uncertain significance Single submitter
ERCC4 p.Arg515Cys Uncertain significance Single submitter
ERCC4 p.Arg589Gly Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Arg595Gly Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg604Thr Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Arg689Cys Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg692Gln Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg726Cys Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg726His Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg740His Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg754Cys Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Arg754His Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg87Cys Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg8Gln Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg97Cys Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg97His Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Arg9Pro Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Asn167Asp Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Asn184Asp Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Asn244Lys Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Asn308Lys Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Asn338Ser Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Asn678Lys Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Asp126His Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Asp172His Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Asp271Tyr Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Asp30Ala Uncertain significance Single submitter
ERCC4 p.Asp330Ala Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Asp457Glu Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Asp541Asn Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Asp541Gly Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Asp541Val Uncertain significance Single submitter
ERCC4 p.Asp582Glu Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Asp664Asn Uncertain significance Single submitter
ERCC4 p.Asp705Val Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Asp715Tyr Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Asp731Asn Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Cys57Ser Uncertain significance Single submitter
ERCC4 p.Gln144Arg Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Gln300Arg Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Gln473Arg Uncertain significance Single submitter
XFE progeroid syndrome
ERCC4 p.Gln65Leu Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Gln677Arg Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Gln818Glu Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Gln818His Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Gln849Leu Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Glu141Lys Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Glu145Gln Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Glu19Lys Uncertain significance Single submitter
XFE progeroid syndrome
ERCC4 p.Glu2Gln Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Glu372Lys Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Glu429Lys Uncertain significance Single submitter
xeroderma pigmentosum
ERCC4 p.Glu533Lys Uncertain significance Single submitter
ERCC4 p.Glu549Asp Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Glu676Gln Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Glu778Asp Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Glu840Ala Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Gly105Ala Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Gly105Arg Uncertain significance Single submitter
xeroderma pigmentosum group F

Predictors split 207

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 207

ERCC4 p.Ala428Val Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Ala56Val Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Ala826Val Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Arg267Cys Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Arg292Gln Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Arg37Cys Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Arg415Gln Benign/Likely benign Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Arg598Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ERCC4 p.Arg618His Uncertain significance Multiple submitters
Cockayne syndrome
ERCC4 p.Arg624Gln Uncertain significance Multiple submitters
Cockayne syndrome
ERCC4 p.Arg670Gln Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Arg864Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ERCC4 p.Arg864His Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Arg86Cys Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Arg86His Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Arg87His Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Asn234His Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Asn845Ser Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Asn893Asp Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Asp562Asn Uncertain significance Multiple submitters
Cockayne syndrome
ERCC4 p.Asp834Tyr Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Glu447Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ERCC4 p.Glu448Gln Likely benign Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Glu99Gln Uncertain significance Multiple submitters
XFE progeroid syndrome
ERCC4 p.Gly259Glu Uncertain significance Multiple submitters
XFE progeroid syndrome
ERCC4 p.Gly600Glu Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Gly611Arg Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Gly648Ser Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Gly673Ser Uncertain significance Multiple submitters
Cockayne syndrome
ERCC4 p.His243Arg Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Ile266Met Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Ile729Thr Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Ile92Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ERCC4 p.Leu132Phe Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Leu27Phe Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Leu49Phe Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Leu793Val Uncertain significance Multiple submitters
Inborn genetic diseases
ERCC4 p.Lys264Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ERCC4 p.Lys370Asn Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Met12Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ERCC4 p.Pro550Ser Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Ser246Leu Uncertain significance Multiple submitters
Cockayne syndrome
ERCC4 p.Ser312Ala Uncertain significance Multiple submitters
Cockayne syndrome
ERCC4 p.Ser331Thr Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Ser412Asn Uncertain significance Multiple submitters
Cockayne syndrome
ERCC4 p.Ser639Arg Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Ser764Gly Uncertain significance Multiple submitters
Cockayne syndrome
ERCC4 p.Ser865Phe Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Thr316Met Uncertain significance Multiple submitters
xeroderma pigmentosum
ERCC4 p.Thr667Asn Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Tyr297Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ERCC4 p.Tyr344Cys Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Tyr423Cys Uncertain significance Multiple submitters
Cockayne syndrome
ERCC4 p.Tyr564Cys Uncertain significance Multiple submitters
XFE progeroid syndrome
ERCC4 p.Tyr606Phe Uncertain significance Multiple submitters
Fanconi anemia complementation group Q
ERCC4 p.Tyr898Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ERCC4 p.Val116Ile Uncertain significance Multiple submitters
xeroderma pigmentosum
ERCC4 p.Val33Ala Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Val709Met Uncertain significance Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Val81Phe Benign/Likely benign Multiple submitters
xeroderma pigmentosum group F
ERCC4 p.Ala168Gly Conflicting Single submitter
xeroderma pigmentosum group F
ERCC4 p.Ala168Val Conflicting Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Ala257Ser Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Ala428Glu Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Ala565Val Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Ala808Gly Conflicting Single submitter
Inborn genetic diseases
ERCC4 p.Ala808Val Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Ala860Asp Conflicting Single submitter
Inborn genetic diseases
ERCC4 p.Ala874Val Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Ala877Gly Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Ala878Val Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg138Gly Uncertain significance Single submitter
XFE progeroid syndrome
ERCC4 p.Arg267His Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Arg267Leu Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg595Thr Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg618Cys Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg618Leu Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Arg624Trp Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg701Cys Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg702Gln Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg702Trp Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Arg750Cys Conflicting Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Arg750His Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Arg799Trp Conflicting Single submitter
Autosomal recessive ERCC4-related disorders
ERCC4 p.Asn244His Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Asn738Asp Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Asn859Tyr Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Asn862Ser Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Asp126Val Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Asp251Asn Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Asp30Glu Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Asp422His Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Asp422Val Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Asp42Asn Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Asp42Gly Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Asp509Asn Uncertain significance Single submitter
XFE progeroid syndrome
ERCC4 p.Asp762Glu Uncertain significance Single submitter
ERCC4 p.Asp824Val Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Asp834Val Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Cys53Tyr Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Cys863Ser Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Gln154Arg Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Gln496His Conflicting Single submitter
Inborn genetic diseases
ERCC4 p.Gln590Glu Uncertain significance Single submitter
XFE progeroid syndrome
ERCC4 p.Gln849Glu Conflicting Single submitter
xeroderma pigmentosum group F
ERCC4 p.Gln881Glu Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Glu210Ala Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Glu25Gln Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Glu317Gly Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Glu502Lys Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Glu527Lys Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Glu628Ala Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Glu707Ala Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Glu707Asp Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Glu70Lys Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Glu811Gly Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Glu811Val Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Glu99Ala Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Gly174Ser Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Gly321Arg Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Gly402Arg Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Gly703Asp Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Gly773Arg Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Gly889Val Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.His137Asp Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.His177Tyr Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.His207Gln Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.His275Tyr Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.His807Asn Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.His902Arg Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Ile107Met Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Ile107Thr Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Ile225Met Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Ile229Val Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Ile554Met Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Ile759Met Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Leu185Ile Uncertain significance Single submitter
Inborn genetic diseases
ERCC4 p.Leu230Val Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Leu313Val Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Leu329Phe Uncertain significance Single submitter
Fanconi anemia complementation group Q
ERCC4 p.Leu388Val Uncertain significance Single submitter
ERCC4 p.Leu433Trp Uncertain significance Single submitter
ERCC4 p.Leu435Ile Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Leu44Phe Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Leu51Arg Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Leu798Val Uncertain significance Single submitter
xeroderma pigmentosum
ERCC4 p.Leu84Phe Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Leu866Met Uncertain significance Single submitter
Cockayne syndrome
ERCC4 p.Leu884Phe Uncertain significance Single submitter
xeroderma pigmentosum group F
ERCC4 p.Lys238Glu Uncertain significance Single submitter
Fanconi anemia complementation group Q

All ERCC4 variants

Pathogenic 31

p.Thr495fs Multiple submitters Cockayne syndrome
p.Trp193Ter Multiple submitters Cockayne syndrome
p.Tyr577Ter Multiple submitters spastic ataxia
c.207+196T>A Single submitter xeroderma pigmentosum
c.793-2A>G Single submitter Fanconi anemia complementation group Q
p.Arg20Ter Single submitter xeroderma pigmentosum group F
p.Arg483fs Single submitter xeroderma pigmentosum group F
p.Arg576_Tyr577insTer Single submitter xeroderma pigmentosum group F
p.Arg692Ter Single submitter xeroderma pigmentosum group F
p.Arg8Ter Single submitter xeroderma pigmentosum group F
p.Cys417Ter Single submitter xeroderma pigmentosum group F
p.Gln103Ter Single submitter xeroderma pigmentosum
p.Gln144Ter Single submitter
p.Gln21Ter Single submitter
p.Gln286Ter Single submitter xeroderma pigmentosum group F
p.Gln296Ter Single submitter xeroderma pigmentosum group F
p.Gln50Ter Single submitter xeroderma pigmentosum group F
p.Glu676Ter Single submitter xeroderma pigmentosum group F
p.Glu68Ter Single submitter xeroderma pigmentosum group F
p.Ile357fs Single submitter
p.Leu284fs Single submitter xeroderma pigmentosum group F
p.Leu291Ter Single submitter xeroderma pigmentosum group F
p.Met222fs Single submitter Cockayne syndrome
p.Met748fs Single submitter xeroderma pigmentosum group F
p.Thr173fs Single submitter
p.Thr439fs Single submitter
p.Tyr297Ter Single submitter Cockayne syndrome
p.Val23fs Single submitter xeroderma pigmentosum group F
p.Arg153Pro No assertion criteria XFE progeroid syndrome
p.Leu230Pro No assertion criteria Fanconi anemia complementation group Q
p.Thr770fs No assertion criteria xeroderma pigmentosum group F

Pathogenic/Likely pathogenic 14

p.Ala400fs Multiple submitters Cockayne syndrome
p.Arg314fs Multiple submitters XFE progeroid syndrome
p.Arg468fs Multiple submitters XFE progeroid syndrome
p.Arg589Trp Multiple submitters autosomal recessive cerebellar ataxia
p.Arg772Ter Multiple submitters xeroderma pigmentosum group F
p.Asn308fs Multiple submitters Fanconi anemia complementation group Q
p.Cys236Arg Multiple submitters xeroderma pigmentosum group F
p.Cys723Ter Multiple submitters Fanconi anemia complementation group Q
p.Gln473fs Multiple submitters xeroderma pigmentosum group F
p.Glu628fs Multiple submitters xeroderma pigmentosum group F
p.Phe186fs Multiple submitters Cockayne syndrome
p.Ser459Ter Multiple submitters xeroderma pigmentosum group F
p.Trp450Ter Multiple submitters XFE progeroid syndrome
c.388+1164_792+795del No assertion criteria XFE progeroid syndrome

Likely pathogenic 21

c.1102+1G>T Multiple submitters xeroderma pigmentosum
p.Arg689Ser Multiple submitters Cockayne syndrome
c.1214-1G>A Single submitter xeroderma pigmentosum
c.1905-8_1909del Single submitter XFE progeroid syndrome
c.2017+1G>A Single submitter xeroderma pigmentosum group F
c.2017+1G>C Single submitter xeroderma pigmentosum
c.388+1G>A Single submitter XFE progeroid syndrome
c.792+1G>A Single submitter xeroderma pigmentosum group F
p.Gln206Ter Single submitter Fanconi anemia complementation group Q
p.Glu239Lys Single submitter Abnormality of blood and blood-forming tissues
p.Ile553fs Single submitter XFE progeroid syndrome
p.Ile634fs Single submitter XFE progeroid syndrome
p.Ile746fs Single submitter XFE progeroid syndrome
p.Ile800fs Single submitter xeroderma pigmentosum group F
p.Leu252fs Single submitter
p.Leu591Val Single submitter ovarian cancer ⚠
p.Met361fs Single submitter
p.Pro194fs Single submitter xeroderma pigmentosum group F
p.Ser324Ter Single submitter XFE progeroid syndrome
p.Ser613Ter Single submitter
p.Tyr101Ter Single submitter xeroderma pigmentosum

Conflicting classifications of pathogenicity 46

c.1102+13G>T Single submitter xeroderma pigmentosum group F
c.1812-5T>C Single submitter xeroderma pigmentosum group F
c.580_584+1del Single submitter xeroderma pigmentosum group F
c.973+11A>T Single submitter Fanconi anemia complementation group Q
c.974-6T>C Single submitter Cockayne syndrome
p.Ala109Thr Single submitter xeroderma pigmentosum group F ⚠
p.Ala168Gly Single submitter xeroderma pigmentosum group F ⚠
p.Ala168Val Single submitter Fanconi anemia complementation group Q ⚠
p.Ala428= Single submitter xeroderma pigmentosum group F
p.Ala596Glu Single submitter ovarian cancer ⚠
p.Ala672= Single submitter Fanconi anemia complementation group Q
p.Ala808Gly Single submitter Inborn genetic diseases ⚠
p.Ala860Asp Single submitter Inborn genetic diseases ⚠
p.Arg576Thr Single submitter Inborn genetic diseases ⚠
p.Arg726= Single submitter Fanconi anemia complementation group Q
p.Arg750Cys Single submitter Fanconi anemia complementation group Q ⚠
p.Arg799Trp Single submitter Autosomal recessive ERCC4-related disorders ⚠
p.Cys35= Single submitter xeroderma pigmentosum group F
p.Gln496His Single submitter Inborn genetic diseases ⚠
p.Gln849Glu Single submitter xeroderma pigmentosum group F ⚠
p.Glu179= Single submitter xeroderma pigmentosum
p.Gly912Arg Single submitter xeroderma pigmentosum group F ⚠
p.Ile634Met Single submitter Cockayne syndrome ⚠
p.Ile706Thr Single submitter Inborn genetic diseases ⚠
p.Ile733= Single submitter xeroderma pigmentosum group F
p.Ile746Val Single submitter xeroderma pigmentosum group F ⚠
p.Leu192= Single submitter Cockayne syndrome
p.Leu580= Single submitter xeroderma pigmentosum group F
p.Leu76= Single submitter xeroderma pigmentosum group F
p.Leu838= Single submitter xeroderma pigmentosum group F
p.Lys157= Single submitter xeroderma pigmentosum group F
p.Lys238= Single submitter xeroderma pigmentosum group F
p.Lys280= Single submitter xeroderma pigmentosum group F
p.Lys464Ile Single submitter xeroderma pigmentosum group F ⚠
p.Lys601Thr Single submitter xeroderma pigmentosum ⚠
p.Lys915Arg Single submitter Inborn genetic diseases ⚠
p.Pro379Ser Single submitter xeroderma pigmentosum group F ⚠
p.Pro472Leu Single submitter xeroderma pigmentosum group F ⚠
p.Ser521Arg Single submitter xeroderma pigmentosum group F ⚠
p.Ser764= Single submitter xeroderma pigmentosum group F
p.Thr809= Single submitter xeroderma pigmentosum group F
p.Tyr344Phe Single submitter xeroderma pigmentosum group F ⚠
p.Tyr71His Single submitter xeroderma pigmentosum group F ⚠
p.Val178Leu Single submitter xeroderma pigmentosum group F ⚠
p.Val536Leu Single submitter xeroderma pigmentosum group F ⚠
p.Val81Ile Single submitter xeroderma pigmentosum group F ⚠

Benign 52

c.1102+219G>A Multiple submitters
c.1102+237C>G Multiple submitters
c.1102+307G>A Multiple submitters
c.1103-311C>G Multiple submitters
c.1103-90T>C Multiple submitters
c.1213+220G>A Multiple submitters
c.1812-103G>A Multiple submitters
c.1904+156A>C Multiple submitters
c.1905-28G>A Multiple submitters xeroderma pigmentosum group F
c.1905-35T>C Multiple submitters XFE progeroid syndrome
c.207+11G>A Multiple submitters Cockayne syndrome
c.207+49G>A Multiple submitters
c.389-36C>G Multiple submitters
c.974-122C>A Multiple submitters
c.974-303T>G Multiple submitters
c.974-7G>A Multiple submitters Cockayne syndrome
c.*11C>T Multiple submitters xeroderma pigmentosum group F
c.*1421G>T Multiple submitters xeroderma pigmentosum group F
c.*2174A>G Multiple submitters xeroderma pigmentosum group F
c.*2513C>A Multiple submitters xeroderma pigmentosum group F
c.*3032G>T Multiple submitters xeroderma pigmentosum group F
c.*3125A>G Multiple submitters xeroderma pigmentosum group F
c.*3195G>A Multiple submitters xeroderma pigmentosum group F
c.*3493T>C Multiple submitters xeroderma pigmentosum group F
c.*3801C>T Multiple submitters xeroderma pigmentosum group F
c.*3913G>C Multiple submitters xeroderma pigmentosum group F
c.*484G>T Multiple submitters xeroderma pigmentosum group F
c.*726G>C Multiple submitters xeroderma pigmentosum group F
c.*810G>A Multiple submitters xeroderma pigmentosum group F
c.*971C>G Multiple submitters xeroderma pigmentosum group F
p.Glu628= Multiple submitters xeroderma pigmentosum group F
p.Pro821= Multiple submitters xeroderma pigmentosum group F
p.Ser662Pro Multiple submitters xeroderma pigmentosum group F
p.Ser835= Multiple submitters xeroderma pigmentosum group F
c.1102+45A>G Single submitter
c.1103-317C>T Single submitter
c.1213+11dup Single submitter Cockayne syndrome
c.1811+234G>A Single submitter
c.1905-215_1905-213del Single submitter
c.1905-241T>C Single submitter
c.2017+223G>A Single submitter
c.208-311C>G Single submitter
c.389-200G>A Single submitter
c.793-13A>T Single submitter Fanconi anemia complementation group Q
c.793-160C>T Single submitter
c.974-7_974-6inv Single submitter Fanconi anemia complementation group Q
c.*1472C>T Single submitter xeroderma pigmentosum group F
c.*1880C>T Single submitter xeroderma pigmentosum group F
c.*2539A>G Single submitter xeroderma pigmentosum group F
c.*2744T>A Single submitter xeroderma pigmentosum group F
c.*3327A>G Single submitter xeroderma pigmentosum group F
c.*674G>C Single submitter xeroderma pigmentosum group F

Benign/Likely benign 10

c.389-5C>T Multiple submitters Fanconi anemia complementation group Q
c.*2577C>A Multiple submitters xeroderma pigmentosum group F
p.Arg415Gln Multiple submitters xeroderma pigmentosum group F ⚠
p.Glu482= Multiple submitters Fanconi anemia complementation group Q
p.Glu875Gly Multiple submitters xeroderma pigmentosum group F
p.Glu883Lys Multiple submitters xeroderma pigmentosum group F
p.Ile873Val Multiple submitters xeroderma pigmentosum group F
p.Leu84= Multiple submitters xeroderma pigmentosum group F
p.Thr885= Multiple submitters xeroderma pigmentosum group F
p.Val81Phe Multiple submitters xeroderma pigmentosum group F ⚠

Likely benign 261

c.793-69G>T Multiple submitters
c.974-72A>G Multiple submitters
c.*1056A>G Multiple submitters xeroderma pigmentosum group F
p.Ala279= Multiple submitters Fanconi anemia complementation group Q
p.Arg483= Multiple submitters Fanconi anemia complementation group Q
p.Asp302= Multiple submitters Cockayne syndrome
p.Gln682= Multiple submitters xeroderma pigmentosum group F
p.Glu448Gln Multiple submitters xeroderma pigmentosum group F ⚠
p.His868= Multiple submitters Cockayne syndrome
p.His869= Multiple submitters xeroderma pigmentosum group F
p.Leu240= Multiple submitters Fanconi anemia complementation group Q
p.Leu620= Multiple submitters xeroderma pigmentosum group F
p.Phe544= Multiple submitters Cockayne syndrome
p.Pro839= Multiple submitters xeroderma pigmentosum
p.Ser246= Multiple submitters xeroderma pigmentosum group F
p.Ser3= Multiple submitters xeroderma pigmentosum group F
p.Tyr610= Multiple submitters xeroderma pigmentosum group F
p.Tyr898= Multiple submitters xeroderma pigmentosum group F
c.1102+14T>C Single submitter xeroderma pigmentosum group F
c.1102+20C>T Single submitter xeroderma pigmentosum group F
c.1102+36dup Single submitter xeroderma pigmentosum group F
c.1102+7T>A Single submitter Fanconi anemia complementation group Q
c.1213+18G>A Single submitter xeroderma pigmentosum group F
c.1213+214G>A Single submitter
c.1213+8A>G Single submitter xeroderma pigmentosum group F
c.1214-10C>A Single submitter xeroderma pigmentosum group F
c.1214-19T>C Single submitter xeroderma pigmentosum group F
c.1214-4T>G Single submitter xeroderma pigmentosum group F
c.1214-8A>G Single submitter xeroderma pigmentosum group F
c.1811+10A>G Single submitter
c.1811+15A>G Single submitter xeroderma pigmentosum group F
c.1811+16T>C Single submitter xeroderma pigmentosum group F
c.1811+9T>A Single submitter xeroderma pigmentosum group F
c.1811+9T>G Single submitter Cockayne syndrome
c.1812-17T>C Single submitter xeroderma pigmentosum group F
c.1812-6A>G Single submitter xeroderma pigmentosum group F
c.1904+190G>A Single submitter
c.1904+4_1904+6dup Single submitter xeroderma pigmentosum group F
c.1904+7C>G Single submitter Cockayne syndrome
c.1904+7C>T Single submitter Cockayne syndrome
c.1905-140A>T Single submitter
c.1905-20G>A Single submitter xeroderma pigmentosum group F
c.1905-20G>C Single submitter Fanconi anemia complementation group Q
c.1905-4A>G Single submitter xeroderma pigmentosum group F
c.1905-7C>G Single submitter Cockayne syndrome
c.2017+19del Single submitter xeroderma pigmentosum group F
c.2018-18C>G Single submitter xeroderma pigmentosum group F
c.2018-19A>T Single submitter Fanconi anemia complementation group Q
c.2018-20T>C Single submitter xeroderma pigmentosum group F
c.207+13T>A Single submitter Cockayne syndrome
c.207+13T>C Single submitter Fanconi anemia complementation group Q
c.207+16C>G Single submitter Fanconi anemia complementation group Q
c.207+19G>T Single submitter Cockayne syndrome
c.207+79G>C Single submitter
c.208-17A>G Single submitter xeroderma pigmentosum group F
c.208-19C>G Single submitter xeroderma pigmentosum group F
c.208-6A>G Single submitter xeroderma pigmentosum group F
c.208-7G>T Single submitter xeroderma pigmentosum group F
c.388+13A>G Single submitter Fanconi anemia complementation group Q
c.388+15T>C Single submitter Cockayne syndrome
c.388+16C>A Single submitter xeroderma pigmentosum group F
c.388+18T>C Single submitter Cockayne syndrome
c.388+19A>C Single submitter xeroderma pigmentosum group F
c.388+20_388+25del Single submitter xeroderma pigmentosum group F
c.389-17A>C Single submitter xeroderma pigmentosum group F
c.389-206C>T Single submitter
c.389-376C>T Single submitter
c.389-5C>A Single submitter xeroderma pigmentosum group F
c.389-8C>G Single submitter Fanconi anemia complementation group Q
c.389-9C>A Single submitter Cockayne syndrome
c.584+14T>G Single submitter xeroderma pigmentosum group F
c.585-10G>A Single submitter xeroderma pigmentosum group F
c.585-14A>G Single submitter Cockayne syndrome
c.585-18A>C Single submitter xeroderma pigmentosum group F
c.792+7T>C Single submitter xeroderma pigmentosum group F
c.792+7T>G Single submitter xeroderma pigmentosum group F
c.793-17T>C Single submitter Fanconi anemia complementation group Q
c.793-18A>G Single submitter xeroderma pigmentosum group F
c.793-9T>G Single submitter xeroderma pigmentosum group F
c.973+17C>T Single submitter Cockayne syndrome
c.973+20A>G Single submitter xeroderma pigmentosum group F
c.973+7G>A Single submitter Cockayne syndrome
c.974-15A>G Single submitter Cockayne syndrome
c.974-17T>C Single submitter Cockayne syndrome
c.974-20_974-16del Single submitter Cockayne syndrome
c.974-8C>T Single submitter Fanconi anemia complementation group Q
c.*1353G>A Single submitter xeroderma pigmentosum group F
c.*1708G>A Single submitter xeroderma pigmentosum group F
c.*2139A>C Single submitter xeroderma pigmentosum group F
c.*2577del Single submitter
c.*2816A>T Single submitter xeroderma pigmentosum group F
c.*3200A>G Single submitter xeroderma pigmentosum group F
c.*3439G>A Single submitter xeroderma pigmentosum group F
c.*3537C>T Single submitter xeroderma pigmentosum group F
c.*3727G>T Single submitter xeroderma pigmentosum group F
c.*3911C>T Single submitter xeroderma pigmentosum group F
c.*558A>C Single submitter xeroderma pigmentosum group F
c.*675G>T Single submitter xeroderma pigmentosum group F
c.*701A>T Single submitter xeroderma pigmentosum group F
c.*947T>C Single submitter xeroderma pigmentosum group F
p.Ala109= Single submitter Fanconi anemia complementation group Q
p.Ala11= Single submitter xeroderma pigmentosum group F
p.Ala136= Single submitter xeroderma pigmentosum group F
p.Ala235= Single submitter Fanconi anemia complementation group Q
p.Ala315= Single submitter xeroderma pigmentosum group F
p.Ala41= Single submitter xeroderma pigmentosum group F
p.Ala583= Single submitter xeroderma pigmentosum group F
p.Ala596= Single submitter Cockayne syndrome
p.Ala661= Single submitter xeroderma pigmentosum group F
p.Ala808= Single submitter xeroderma pigmentosum group F
p.Ala810= Single submitter xeroderma pigmentosum group F
p.Ala825= Single submitter Cockayne syndrome
p.Ala826= Single submitter xeroderma pigmentosum group F
p.Arg112= Single submitter xeroderma pigmentosum group F
p.Arg138= Single submitter xeroderma pigmentosum group F
p.Arg180= Single submitter Cockayne syndrome
p.Arg43= Single submitter xeroderma pigmentosum group F
p.Arg477= Single submitter Fanconi anemia complementation group Q
p.Arg576= Single submitter Cockayne syndrome
p.Arg589= Single submitter xeroderma pigmentosum group F
p.Arg624= Single submitter Cockayne syndrome
p.Arg646= Single submitter Cockayne syndrome
p.Arg689= Single submitter xeroderma pigmentosum group F
p.Arg740= Single submitter Cockayne syndrome
p.Arg754= Single submitter
p.Arg772= Single submitter xeroderma pigmentosum group F
p.Arg8= Single submitter Fanconi anemia complementation group Q
p.Asn308= Single submitter xeroderma pigmentosum group F
p.Asn653= Single submitter xeroderma pigmentosum group F
p.Asn738= Single submitter xeroderma pigmentosum group F
p.Asn845= Single submitter xeroderma pigmentosum group F
p.Asn890= Single submitter xeroderma pigmentosum group F
p.Asp121= Single submitter xeroderma pigmentosum group F
p.Asp457= Single submitter xeroderma pigmentosum group F
p.Asp541= Single submitter xeroderma pigmentosum group F
p.Asp655= Single submitter xeroderma pigmentosum group F
p.Asp882= Single submitter Cockayne syndrome
p.Asp899= Single submitter xeroderma pigmentosum group F
p.Cys723= Single submitter Fanconi anemia complementation group Q
p.Gln406= Single submitter Cockayne syndrome
p.Gln5= Single submitter xeroderma pigmentosum group F
p.Gln75= Single submitter xeroderma pigmentosum group F
p.Gln822= Single submitter Fanconi anemia complementation group Q
p.Glu372= Single submitter Cockayne syndrome
p.Glu397= Single submitter xeroderma pigmentosum group F
p.Glu429= Single submitter xeroderma pigmentosum group F
p.Glu527= Single submitter xeroderma pigmentosum group F
p.Glu533= Single submitter xeroderma pigmentosum group F
p.Glu725= Single submitter Cockayne syndrome
p.Glu811= Single submitter xeroderma pigmentosum group F
p.Gly325= Single submitter xeroderma pigmentosum
p.Gly38= Single submitter Cockayne syndrome
p.Gly427= Single submitter xeroderma pigmentosum group F
p.Gly499= Single submitter xeroderma pigmentosum group F
p.Gly559= Single submitter Fanconi anemia complementation group Q
p.His197= Single submitter Cockayne syndrome
p.His275= Single submitter xeroderma pigmentosum group F
p.His807= Single submitter xeroderma pigmentosum group F
p.His83= Single submitter xeroderma pigmentosum group F
p.His902= Single submitter xeroderma pigmentosum group F
p.Ile128= Single submitter xeroderma pigmentosum group F
p.Ile140= Single submitter Fanconi anemia complementation group Q
p.Ile357= Single submitter xeroderma pigmentosum group F
p.Ile363= Single submitter Cockayne syndrome
p.Ile518= Single submitter xeroderma pigmentosum group F
p.Ile699= Single submitter xeroderma pigmentosum group F
p.Ile706= Single submitter
p.Ile729= Single submitter xeroderma pigmentosum group F
p.Ile73= Single submitter Cockayne syndrome
p.Ile873= Single submitter xeroderma pigmentosum group F
p.Leu119= Single submitter xeroderma pigmentosum group F
p.Leu127= Single submitter xeroderma pigmentosum group F
p.Leu15= Single submitter Cockayne syndrome
p.Leu185= Single submitter xeroderma pigmentosum group F
p.Leu237= Single submitter Cockayne syndrome
p.Leu252= Single submitter Cockayne syndrome
p.Leu27= Single submitter xeroderma pigmentosum group F
p.Leu284= Single submitter
p.Leu291= Single submitter xeroderma pigmentosum group F
p.Leu32= Single submitter xeroderma pigmentosum group F
p.Leu375= Single submitter xeroderma pigmentosum group F
p.Leu384= Single submitter Cockayne syndrome
p.Leu39= Single submitter xeroderma pigmentosum group F
p.Leu420= Single submitter Cockayne syndrome
p.Leu433= Single submitter Fanconi anemia complementation group Q
p.Leu44= Single submitter Fanconi anemia complementation group Q
p.Leu49= Single submitter xeroderma pigmentosum group F
p.Leu492= Single submitter xeroderma pigmentosum group F
p.Leu504= Single submitter xeroderma pigmentosum group F
p.Leu558= Single submitter xeroderma pigmentosum group F
p.Leu566= Single submitter xeroderma pigmentosum group F
p.Leu58= Single submitter xeroderma pigmentosum group F
p.Leu60= Single submitter Fanconi anemia complementation group Q
p.Leu633= Single submitter Fanconi anemia complementation group Q
p.Leu732= Single submitter xeroderma pigmentosum group F
p.Leu736= Single submitter xeroderma pigmentosum group F
p.Leu741= Single submitter xeroderma pigmentosum group F
p.Leu758= Single submitter xeroderma pigmentosum group F
p.Leu769= Single submitter Fanconi anemia complementation group Q
p.Leu798= Single submitter xeroderma pigmentosum group F
p.Leu801= Single submitter xeroderma pigmentosum group F
p.Leu812= Single submitter Cockayne syndrome
p.Leu816= Single submitter xeroderma pigmentosum group F
p.Leu879= Single submitter xeroderma pigmentosum group F
p.Leu897= Single submitter xeroderma pigmentosum group F
p.Lys282= Single submitter xeroderma pigmentosum group F
p.Lys354= Single submitter xeroderma pigmentosum group F
p.Lys356= Single submitter xeroderma pigmentosum group F
p.Lys438= Single submitter xeroderma pigmentosum group F
p.Lys460= Single submitter xeroderma pigmentosum group F
p.Phe440= Single submitter xeroderma pigmentosum group F
p.Phe587= Single submitter Cockayne syndrome
p.Phe776= Single submitter xeroderma pigmentosum group F
p.Phe900= Single submitter Fanconi anemia complementation group Q
p.Pro124= Single submitter xeroderma pigmentosum group F
p.Pro14= Single submitter xeroderma pigmentosum group F
p.Pro272= Single submitter Fanconi anemia complementation group Q
p.Pro55= Single submitter xeroderma pigmentosum group F
p.Pro550= Single submitter Cockayne syndrome
p.Pro556= Single submitter xeroderma pigmentosum group F
p.Pro563= Single submitter Cockayne syndrome
p.Pro708= Single submitter Fanconi anemia complementation group Q
p.Pro755= Single submitter xeroderma pigmentosum group F
p.Ser142= Single submitter xeroderma pigmentosum group F
p.Ser334= Single submitter xeroderma pigmentosum group F
p.Ser540= Single submitter Cockayne syndrome
p.Ser666= Single submitter xeroderma pigmentosum group F
p.Ser805= Single submitter Cockayne syndrome
p.Ser880= Single submitter Fanconi anemia complementation group Q
p.Ser904= Single submitter xeroderma pigmentosum group F
p.Thr102= Single submitter xeroderma pigmentosum group F
p.Thr227= Single submitter xeroderma pigmentosum group F
p.Thr305= Single submitter xeroderma pigmentosum group F
p.Thr316= Single submitter Fanconi anemia complementation group Q
p.Thr369= Single submitter Cockayne syndrome
p.Thr416= Single submitter
p.Thr439= Single submitter xeroderma pigmentosum group F
p.Thr484= Single submitter Fanconi anemia complementation group Q
p.Thr586= Single submitter xeroderma pigmentosum group F
p.Thr667= Single submitter xeroderma pigmentosum group F
p.Thr837= Single submitter
p.Thr93Ala Single submitter Inborn genetic diseases
p.Tyr101= Single submitter xeroderma pigmentosum group F
p.Tyr134= Single submitter Cockayne syndrome
p.Tyr423= Single submitter Fanconi anemia complementation group Q
p.Tyr581= Single submitter Fanconi anemia complementation group Q
p.Tyr742= Single submitter Fanconi anemia complementation group Q
p.Tyr98= Single submitter Cockayne syndrome
p.Val133= Single submitter
p.Val178= Single submitter Fanconi anemia complementation group Q
p.Val187= Single submitter Cockayne syndrome
p.Val23= Single submitter xeroderma pigmentosum group F
p.Val449= Single submitter xeroderma pigmentosum group F
p.Val61= Single submitter Cockayne syndrome
p.Val657= Single submitter xeroderma pigmentosum group F
p.Val685= Single submitter xeroderma pigmentosum group F
p.Val858= Single submitter Cockayne syndrome
p.Val908= Single submitter xeroderma pigmentosum group F
p.Ile546= No assertion criteria ERCC4-related disorder
p.Phe630= No assertion criteria ERCC4-related disorder
p.Pro526= No assertion criteria ERCC4-related disorder

Uncertain significance 552

Showing the top 300 by review status; the full set is in the sitemap.

c.*2588A>G Multiple submitters xeroderma pigmentosum group F
p.Ala13Ser Multiple submitters xeroderma pigmentosum group F ⚠
p.Ala13Thr Multiple submitters behavioral variant of frontotemporal dementia ⚠
p.Ala235Thr Multiple submitters Fanconi anemia complementation group Q ⚠
p.Ala428Val Multiple submitters Fanconi anemia complementation group Q ⚠
p.Ala446Ser Multiple submitters Fanconi anemia complementation group Q ⚠
p.Ala565Thr Multiple submitters xeroderma pigmentosum group F ⚠
p.Ala56Val Multiple submitters xeroderma pigmentosum group F ⚠
p.Ala7Thr Multiple submitters Cockayne syndrome ⚠
p.Ala826Val Multiple submitters xeroderma pigmentosum group F ⚠
p.Ala874Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg158Cys Multiple submitters xeroderma pigmentosum group F ⚠
p.Arg158His Multiple submitters Fanconi anemia complementation group Q ⚠
p.Arg267Cys Multiple submitters xeroderma pigmentosum group F ⚠
p.Arg292Gln Multiple submitters xeroderma pigmentosum group F ⚠
p.Arg37Cys Multiple submitters xeroderma pigmentosum group F ⚠
p.Arg515His Multiple submitters Fanconi anemia complementation group Q ⚠
p.Arg576Ser Multiple submitters xeroderma pigmentosum group F ⚠
p.Arg598Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg618His Multiple submitters Cockayne syndrome ⚠
p.Arg624Gln Multiple submitters Cockayne syndrome ⚠
p.Arg670Gln Multiple submitters xeroderma pigmentosum group F ⚠
p.Arg701His Multiple submitters xeroderma pigmentosum group F ⚠
p.Arg740Cys Multiple submitters Cockayne syndrome ⚠
p.Arg864Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg864His Multiple submitters xeroderma pigmentosum group F ⚠
p.Arg86Cys Multiple submitters Fanconi anemia complementation group Q ⚠
p.Arg86His Multiple submitters Fanconi anemia complementation group Q ⚠
p.Arg87His Multiple submitters xeroderma pigmentosum group F ⚠
p.Arg9Gly Multiple submitters Inborn genetic diseases ⚠
p.Asn234His Multiple submitters Fanconi anemia complementation group Q ⚠
p.Asn63His Multiple submitters xeroderma pigmentosum group F ⚠
p.Asn845Ser Multiple submitters xeroderma pigmentosum group F ⚠
p.Asn893Asp Multiple submitters xeroderma pigmentosum group F ⚠
p.Asp562Asn Multiple submitters Cockayne syndrome ⚠
p.Asp664Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp834Tyr Multiple submitters xeroderma pigmentosum group F ⚠
p.Cys525Trp Multiple submitters Fanconi anemia complementation group Q ⚠
p.Gln21Glu Multiple submitters Fanconi anemia complementation group Q ⚠
p.Gln406Arg Multiple submitters xeroderma pigmentosum group F ⚠
p.Glu368Lys Multiple submitters Cockayne syndrome ⚠
p.Glu447Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu456Lys Multiple submitters xeroderma pigmentosum group F ⚠
p.Glu517Lys Multiple submitters xeroderma pigmentosum group F ⚠
p.Glu527Asp Multiple submitters xeroderma pigmentosum group F ⚠
p.Glu99Gln Multiple submitters XFE progeroid syndrome ⚠
p.Gly159Ser Multiple submitters xeroderma pigmentosum group F ⚠
p.Gly259Glu Multiple submitters XFE progeroid syndrome ⚠
p.Gly403Arg Multiple submitters xeroderma pigmentosum group F ⚠
p.Gly559Asp Multiple submitters xeroderma pigmentosum group F ⚠
p.Gly600Glu Multiple submitters Fanconi anemia complementation group Q ⚠
p.Gly611Arg Multiple submitters xeroderma pigmentosum group F ⚠
p.Gly648Ser Multiple submitters xeroderma pigmentosum group F ⚠
p.Gly659Asp Multiple submitters Fanconi anemia complementation group Q ⚠
p.Gly673Ser Multiple submitters Cockayne syndrome ⚠
p.Gly703Val Multiple submitters xeroderma pigmentosum group F ⚠
p.Gly734Ser Multiple submitters xeroderma pigmentosum group F ⚠
p.Gly912Glu Multiple submitters Cockayne syndrome ⚠
p.His243Arg Multiple submitters Fanconi anemia complementation group Q ⚠
p.His868Pro Multiple submitters xeroderma pigmentosum group F ⚠
p.Ile266Met Multiple submitters Fanconi anemia complementation group Q ⚠
p.Ile290Met Multiple submitters Cockayne syndrome ⚠
p.Ile337Val Multiple submitters Fanconi anemia complementation group Q ⚠
p.Ile553Val Multiple submitters xeroderma pigmentosum group F ⚠
p.Ile729Thr Multiple submitters Fanconi anemia complementation group Q ⚠
p.Ile73Val Multiple submitters Inborn genetic diseases ⚠
p.Ile92Ser Multiple submitters Inborn genetic diseases ⚠
p.Leu132Phe Multiple submitters xeroderma pigmentosum group F ⚠
p.Leu27Phe Multiple submitters xeroderma pigmentosum group F ⚠
p.Leu313Pro Multiple submitters xeroderma pigmentosum group F ⚠
p.Leu401Phe Multiple submitters xeroderma pigmentosum group F ⚠
p.Leu49Phe Multiple submitters Fanconi anemia complementation group Q ⚠
p.Leu580Pro Multiple submitters xeroderma pigmentosum ⚠
p.Leu793Val Multiple submitters Inborn genetic diseases ⚠
p.Lys264Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys364Glu Multiple submitters Cockayne syndrome ⚠
p.Lys370Asn Multiple submitters xeroderma pigmentosum group F ⚠
p.Lys445Thr Multiple submitters xeroderma pigmentosum group F ⚠
p.Lys488Arg Multiple submitters xeroderma pigmentosum group F ⚠
p.Met12Ile Multiple submitters Inborn genetic diseases ⚠
p.Met12Val Multiple submitters XFE progeroid syndrome ⚠
p.Met335Val Multiple submitters xeroderma pigmentosum group F ⚠
p.Pro404Ser Multiple submitters Cockayne syndrome ⚠
p.Pro526Leu Multiple submitters xeroderma pigmentosum group F ⚠
p.Pro550Ser Multiple submitters Fanconi anemia complementation group Q ⚠
p.Pro602Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro696Leu Multiple submitters xeroderma pigmentosum group F ⚠
p.Pro763Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser246Leu Multiple submitters Cockayne syndrome ⚠
p.Ser312Ala Multiple submitters Cockayne syndrome ⚠
p.Ser331Thr Multiple submitters Fanconi anemia complementation group Q ⚠
p.Ser334Leu Multiple submitters xeroderma pigmentosum group F ⚠
p.Ser3Leu Multiple submitters xeroderma pigmentosum group F ⚠
p.Ser412Asn Multiple submitters Cockayne syndrome ⚠
p.Ser540Leu Multiple submitters xeroderma pigmentosum group F ⚠
p.Ser639Arg Multiple submitters Fanconi anemia complementation group Q ⚠
p.Ser764Gly Multiple submitters Cockayne syndrome ⚠
p.Ser865Phe Multiple submitters xeroderma pigmentosum group F ⚠
p.Ser886Gly Multiple submitters Cockayne syndrome ⚠
p.Thr316Met Multiple submitters xeroderma pigmentosum ⚠
p.Thr552Ile Multiple submitters Fanconi anemia complementation group Q ⚠
p.Thr660Ile Multiple submitters xeroderma pigmentosum ⚠
p.Thr667Asn Multiple submitters Fanconi anemia complementation group Q ⚠
p.Thr827Lys Multiple submitters Fanconi anemia complementation group Q ⚠
p.Tyr297Asn Multiple submitters Inborn genetic diseases ⚠
p.Tyr344Cys Multiple submitters xeroderma pigmentosum group F ⚠
p.Tyr423Cys Multiple submitters Cockayne syndrome ⚠
p.Tyr46Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr564Cys Multiple submitters XFE progeroid syndrome ⚠
p.Tyr606Phe Multiple submitters Fanconi anemia complementation group Q ⚠
p.Tyr898Cys Multiple submitters Inborn genetic diseases ⚠
p.Val116Ile Multiple submitters xeroderma pigmentosum ⚠
p.Val33Ala Multiple submitters xeroderma pigmentosum group F ⚠
p.Val498Ala Multiple submitters xeroderma pigmentosum group F ⚠
p.Val588Ala Multiple submitters Inborn genetic diseases ⚠
p.Val588Ile Multiple submitters xeroderma pigmentosum group F ⚠
p.Val709Met Multiple submitters xeroderma pigmentosum group F ⚠
p.Val756Met Multiple submitters xeroderma pigmentosum group F ⚠
p.Val909Ile Multiple submitters Fanconi anemia complementation group Q ⚠
c.1892_1904+41dup Single submitter xeroderma pigmentosum group F
c.1905-6C>G Single submitter xeroderma pigmentosum
c.2017+3G>A Single submitter xeroderma pigmentosum group F
c.207+5G>C Single submitter Fanconi anemia complementation group Q
c.207+6G>T Single submitter xeroderma pigmentosum group F
c.208-3T>C Single submitter xeroderma pigmentosum group F
c.208-3T>G Single submitter xeroderma pigmentosum group F
c.389-330G>A Single submitter
c.389-6C>G Single submitter XFE progeroid syndrome
c.792+3A>G Single submitter XFE progeroid syndrome
c.*106A>G Single submitter xeroderma pigmentosum group F
c.*1251T>C Single submitter xeroderma pigmentosum group F
c.*1256G>C Single submitter xeroderma pigmentosum group F
c.*1288G>A Single submitter xeroderma pigmentosum group F
c.*1463C>T Single submitter xeroderma pigmentosum group F
c.*1478T>C Single submitter xeroderma pigmentosum group F
c.*150T>C Single submitter xeroderma pigmentosum group F
c.*1635G>A Single submitter xeroderma pigmentosum group F
c.*1676G>A Single submitter xeroderma pigmentosum group F
c.*1774C>T Single submitter xeroderma pigmentosum group F
c.*1796T>C Single submitter xeroderma pigmentosum group F
c.*1858C>T Single submitter xeroderma pigmentosum group F
c.*1897A>C Single submitter xeroderma pigmentosum group F
c.*1915A>G Single submitter xeroderma pigmentosum group F
c.*192T>C Single submitter xeroderma pigmentosum group F
c.*1981C>T Single submitter xeroderma pigmentosum group F
c.*2072T>G Single submitter xeroderma pigmentosum group F
c.*2180G>A Single submitter xeroderma pigmentosum group F
c.*218A>G Single submitter xeroderma pigmentosum group F
c.*2240A>G Single submitter xeroderma pigmentosum group F
c.*2255G>A Single submitter xeroderma pigmentosum group F
c.*2415A>G Single submitter xeroderma pigmentosum group F
c.*2423A>G Single submitter xeroderma pigmentosum group F
c.*2455G>T Single submitter xeroderma pigmentosum group F
c.*2463C>G Single submitter xeroderma pigmentosum group F
c.*248G>A Single submitter xeroderma pigmentosum group F
c.*248G>T Single submitter xeroderma pigmentosum group F
c.*2572C>G Single submitter xeroderma pigmentosum group F
c.*2659T>C Single submitter xeroderma pigmentosum group F
c.*2710C>T Single submitter xeroderma pigmentosum group F
c.*2712C>T Single submitter xeroderma pigmentosum group F
c.*2759C>T Single submitter xeroderma pigmentosum group F
c.*2825A>T Single submitter xeroderma pigmentosum group F
c.*2849G>A Single submitter xeroderma pigmentosum group F
c.*2872A>C Single submitter xeroderma pigmentosum group F
c.*2879A>C Single submitter xeroderma pigmentosum group F
c.*2892C>G Single submitter xeroderma pigmentosum group F
c.*3044A>C Single submitter xeroderma pigmentosum group F
c.*3071T>C Single submitter xeroderma pigmentosum group F
c.*3130T>C Single submitter xeroderma pigmentosum group F
c.*3230C>G Single submitter xeroderma pigmentosum group F
c.*3282C>G Single submitter xeroderma pigmentosum group F
c.*3319G>A Single submitter xeroderma pigmentosum group F
c.*3443G>A Single submitter xeroderma pigmentosum group F
c.*3542T>C Single submitter xeroderma pigmentosum group F
c.*3753C>G Single submitter xeroderma pigmentosum group F
c.*3818G>A Single submitter xeroderma pigmentosum group F
c.*384A>G Single submitter xeroderma pigmentosum group F
c.*3921A>C Single submitter xeroderma pigmentosum group F
c.*3965G>A Single submitter xeroderma pigmentosum group F
c.*411C>T Single submitter xeroderma pigmentosum group F
c.*539G>A Single submitter xeroderma pigmentosum group F
c.*630C>T Single submitter xeroderma pigmentosum group F
c.*712A>G Single submitter xeroderma pigmentosum group F
c.*745A>G Single submitter xeroderma pigmentosum group F
c.*859A>C Single submitter xeroderma pigmentosum group F
c.*875A>G Single submitter xeroderma pigmentosum group F
p.Ala109Val Single submitter Cockayne syndrome ⚠
p.Ala11Val Single submitter Fanconi anemia complementation group Q ⚠
p.Ala224Val Single submitter xeroderma pigmentosum group F ⚠
p.Ala257Ser Single submitter Cockayne syndrome ⚠
p.Ala349Thr Single submitter xeroderma pigmentosum group F ⚠
p.Ala36Pro Single submitter xeroderma pigmentosum group F ⚠
p.Ala383Val Single submitter Fanconi anemia complementation group Q ⚠
p.Ala41Gly Single submitter Fanconi anemia complementation group Q ⚠
p.Ala428Glu Single submitter xeroderma pigmentosum group F ⚠
p.Ala430Asp Single submitter xeroderma pigmentosum group F ⚠
p.Ala478Thr Single submitter xeroderma pigmentosum group F ⚠
p.Ala565Gly Single submitter Inborn genetic diseases ⚠
p.Ala565Val Single submitter Fanconi anemia complementation group Q ⚠
p.Ala596Val Single submitter Cockayne syndrome ⚠
p.Ala638Leu Single submitter Cockayne syndrome
p.Ala661Thr Single submitter xeroderma pigmentosum group F ⚠
p.Ala67Thr Single submitter xeroderma pigmentosum group F ⚠
p.Ala7Val Single submitter xeroderma pigmentosum group F ⚠
p.Ala808Val Single submitter xeroderma pigmentosum group F ⚠
p.Ala825Val Single submitter Cockayne syndrome ⚠
p.Ala874Val Single submitter Fanconi anemia complementation group Q ⚠
p.Ala877Gly Single submitter xeroderma pigmentosum group F ⚠
p.Ala878Ser Single submitter Fanconi anemia complementation group Q ⚠
p.Ala878Val Single submitter xeroderma pigmentosum group F ⚠
p.Ala892Thr Single submitter xeroderma pigmentosum group F ⚠
p.Arg112Ser Single submitter Cockayne syndrome ⚠
p.Arg135Lys Single submitter Fanconi anemia complementation group Q ⚠
p.Arg138Gly Single submitter XFE progeroid syndrome ⚠
p.Arg138Lys Single submitter Cockayne syndrome ⚠
p.Arg150Cys Single submitter Fanconi anemia complementation group Q ⚠
p.Arg150Pro Single submitter xeroderma pigmentosum group F ⚠
p.Arg153Cys Single submitter Cockayne syndrome ⚠
p.Arg153His Single submitter xeroderma pigmentosum group F ⚠
p.Arg267His Single submitter Fanconi anemia complementation group Q ⚠
p.Arg267Leu Single submitter xeroderma pigmentosum group F ⚠
p.Arg340Gln Single submitter xeroderma pigmentosum group F ⚠
p.Arg415Gly Single submitter xeroderma pigmentosum group F ⚠
p.Arg434Lys Single submitter xeroderma pigmentosum group F ⚠
p.Arg43Trp Single submitter Fanconi anemia complementation group Q ⚠
p.Arg463Thr Single submitter Inborn genetic diseases ⚠
p.Arg468Ser Single submitter xeroderma pigmentosum group F ⚠
p.Arg490Gln Single submitter ⚠
p.Arg515Cys Single submitter ⚠
p.Arg589Gly Single submitter Fanconi anemia complementation group Q ⚠
p.Arg595Gly Single submitter xeroderma pigmentosum group F ⚠
p.Arg595Thr Single submitter xeroderma pigmentosum group F ⚠
p.Arg604Thr Single submitter Inborn genetic diseases ⚠
p.Arg618Cys Single submitter xeroderma pigmentosum group F ⚠
p.Arg618Leu Single submitter Cockayne syndrome ⚠
p.Arg624Trp Single submitter xeroderma pigmentosum group F ⚠
p.Arg635= Single submitter xeroderma pigmentosum group F
p.Arg689Cys Single submitter xeroderma pigmentosum group F ⚠
p.Arg692Gln Single submitter xeroderma pigmentosum group F ⚠
p.Arg701Cys Single submitter xeroderma pigmentosum group F ⚠
p.Arg702Gln Single submitter xeroderma pigmentosum group F ⚠
p.Arg702Trp Single submitter xeroderma pigmentosum group F ⚠
p.Arg726Cys Single submitter xeroderma pigmentosum group F ⚠
p.Arg726His Single submitter xeroderma pigmentosum group F ⚠
p.Arg740His Single submitter xeroderma pigmentosum group F ⚠
p.Arg750His Single submitter Fanconi anemia complementation group Q ⚠
p.Arg754Cys Single submitter Cockayne syndrome ⚠
p.Arg754His Single submitter xeroderma pigmentosum group F ⚠
p.Arg87Cys Single submitter xeroderma pigmentosum group F ⚠
p.Arg8Gln Single submitter xeroderma pigmentosum group F ⚠
p.Arg97Cys Single submitter xeroderma pigmentosum group F ⚠
p.Arg97His Single submitter Inborn genetic diseases ⚠
p.Arg9Pro Single submitter Cockayne syndrome ⚠
p.Asn167Asp Single submitter Cockayne syndrome ⚠
p.Asn184Asp Single submitter xeroderma pigmentosum group F ⚠
p.Asn244His Single submitter xeroderma pigmentosum group F ⚠
p.Asn244Lys Single submitter Inborn genetic diseases ⚠
p.Asn308Lys Single submitter xeroderma pigmentosum group F ⚠
p.Asn338Ser Single submitter Inborn genetic diseases ⚠
p.Asn678Lys Single submitter xeroderma pigmentosum group F ⚠
p.Asn738Asp Single submitter xeroderma pigmentosum group F ⚠
p.Asn859Tyr Single submitter Fanconi anemia complementation group Q ⚠
p.Asn862Ser Single submitter xeroderma pigmentosum group F ⚠
p.Asp126His Single submitter xeroderma pigmentosum group F ⚠
p.Asp126Val Single submitter Cockayne syndrome ⚠
p.Asp172His Single submitter xeroderma pigmentosum group F ⚠
p.Asp251Asn Single submitter xeroderma pigmentosum group F ⚠
p.Asp271Tyr Single submitter xeroderma pigmentosum group F ⚠
p.Asp30Ala Single submitter ⚠
p.Asp30Glu Single submitter xeroderma pigmentosum group F ⚠
p.Asp330Ala Single submitter Cockayne syndrome ⚠
p.Asp422His Single submitter Inborn genetic diseases ⚠
p.Asp422Val Single submitter xeroderma pigmentosum group F ⚠
p.Asp42Asn Single submitter Fanconi anemia complementation group Q ⚠
p.Asp42Gly Single submitter Cockayne syndrome ⚠
p.Asp457Glu Single submitter Inborn genetic diseases ⚠
p.Asp509Asn Single submitter XFE progeroid syndrome ⚠
p.Asp541Asn Single submitter xeroderma pigmentosum group F ⚠
p.Asp541Gly Single submitter xeroderma pigmentosum group F ⚠
p.Asp541Val Single submitter ⚠
p.Asp582Glu Single submitter xeroderma pigmentosum group F ⚠
p.Asp664Asn Single submitter ⚠
p.Asp705Val Single submitter Cockayne syndrome ⚠
p.Asp715Tyr Single submitter Cockayne syndrome ⚠
p.Asp731Asn Single submitter xeroderma pigmentosum group F ⚠
p.Asp762Glu Single submitter ⚠
p.Asp824Val Single submitter xeroderma pigmentosum group F ⚠
p.Asp834Val Single submitter Inborn genetic diseases ⚠
p.Cys53Tyr Single submitter xeroderma pigmentosum group F ⚠
p.Cys57Ser Single submitter ⚠
p.Cys863Ser Single submitter xeroderma pigmentosum group F ⚠
p.Gln144Arg Single submitter xeroderma pigmentosum group F ⚠
p.Gln154Arg Single submitter Inborn genetic diseases ⚠
p.Gln300Arg Single submitter Cockayne syndrome ⚠
p.Gln473Arg Single submitter XFE progeroid syndrome ⚠
p.Gln590Glu Single submitter XFE progeroid syndrome ⚠
p.Gln65Leu Single submitter xeroderma pigmentosum group F ⚠
p.Gln677Arg Single submitter Inborn genetic diseases ⚠
p.Gln818Glu Single submitter xeroderma pigmentosum group F ⚠
p.Gln818His Single submitter Inborn genetic diseases ⚠