ERCC3 — 650 ClinVar variants
All ClinVar germline ERCC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 257 flagged for review →
37 Pathogenic · 11 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 31 Conflicting · 35 Benign · 13 Benign/Likely benign · 236 Likely benign · 273 Uncertain significance
Full ERCC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 257
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.
-
ERCC3 p.Ile156Val
Likely pathogenic
Single submitter
ovarian cancer
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ERCC3 p.Arg360His
Conflicting
Single submitter
ovarian cancer
-
ERCC3 p.Asp24Glu
Conflicting
Single submitter
Inborn genetic diseases
-
ERCC3 p.Glu654Lys
Conflicting
Single submitter
Inborn genetic diseases
- ERCC3 p.Ser335Leu Conflicting Single submitter
Predictors lean, ClinVar uncertain 152
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 152
-
ERCC3 p.Ala120Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ERCC3 p.Ala567Val Uncertain significance Multiple submitters
-
ERCC3 p.Arg109Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.Arg234Gln
Uncertain significance
Multiple submitters
xeroderma pigmentosum group B
-
ERCC3 p.Arg360Cys
Uncertain significance
Multiple submitters
xeroderma pigmentosum group B
-
ERCC3 p.Arg453Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.Arg634Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.Arg742Trp
Uncertain significance
Multiple submitters
xeroderma pigmentosum group B
-
ERCC3 p.Asp666Asn
Uncertain significance
Multiple submitters
trichothiodystrophy 2, photosensitive
- ERCC3 p.Asp755Asn Uncertain significance Multiple submitters
-
ERCC3 p.Glu105Gly
Uncertain significance
Multiple submitters
xeroderma pigmentosum group B
-
ERCC3 p.Glu48Asp
Uncertain significance
Multiple submitters
xeroderma pigmentosum group B
-
ERCC3 p.Glu48Gly
Uncertain significance
Multiple submitters
xeroderma pigmentosum
-
ERCC3 p.Glu517Lys
Uncertain significance
Multiple submitters
xeroderma pigmentosum
-
ERCC3 p.Gly587Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.His762Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ERCC3 p.Ile220Ser Uncertain significance Multiple submitters
-
ERCC3 p.Lys11Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ERCC3 p.Lys449Arg Uncertain significance Multiple submitters
-
ERCC3 p.Lys44Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.Met514Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.Met696Arg
Uncertain significance
Multiple submitters
xeroderma pigmentosum group B
-
ERCC3 p.Met750Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.Met750Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ERCC3 p.Phe297Ser Uncertain significance Multiple submitters
-
ERCC3 p.Phe85Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.Pro75Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.Thr417Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.Thr720Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.Val177Ile
Uncertain significance
Multiple submitters
xeroderma pigmentosum group B
- ERCC3 p.Ala219Thr Uncertain significance Single submitter
- ERCC3 p.Ala353Pro Uncertain significance Single submitter
- ERCC3 p.Ala37Thr Uncertain significance Single submitter
-
ERCC3 p.Ala41Val
Uncertain significance
Single submitter
xeroderma pigmentosum
- ERCC3 p.Ala423Val Uncertain significance Single submitter
- ERCC3 p.Ala460Ser Uncertain significance Single submitter
- ERCC3 p.Ala468Val Uncertain significance Single submitter
- ERCC3 p.Ala503Thr Uncertain significance Single submitter
-
ERCC3 p.Ala620Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Ala652Thr Uncertain significance Single submitter
- ERCC3 p.Ala702Val Uncertain significance Single submitter
- ERCC3 p.Ala768Gly Uncertain significance Single submitter
- ERCC3 p.Ala768Val Uncertain significance Single submitter
- ERCC3 p.Ala7Val Uncertain significance Single submitter
- ERCC3 p.Arg195Leu Uncertain significance Single submitter
- ERCC3 p.Arg198His Uncertain significance Single submitter
- ERCC3 p.Arg298Trp Uncertain significance Single submitter
-
ERCC3 p.Arg332Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Arg334Gly Uncertain significance Single submitter
-
ERCC3 p.Arg334His
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Arg472His Uncertain significance Single submitter
- ERCC3 p.Arg520Gly Uncertain significance Single submitter
- ERCC3 p.Arg520Trp Uncertain significance Single submitter
-
ERCC3 p.Arg633Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Arg642Gln Uncertain significance Single submitter
- ERCC3 p.Arg642Trp Uncertain significance Single submitter
-
ERCC3 p.Arg645Gln
Uncertain significance
Single submitter
xeroderma pigmentosum group B
- ERCC3 p.Arg645Gly Uncertain significance Single submitter
- ERCC3 p.Arg676Trp Uncertain significance Single submitter
- ERCC3 p.Arg736Ser Uncertain significance Single submitter
-
ERCC3 p.Arg74Met
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Arg765Gln Uncertain significance Single submitter
-
ERCC3 p.Arg781Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERCC3 p.Asn603Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Asn603Tyr Uncertain significance Single submitter
-
ERCC3 p.Asp191Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Asp256Glu Uncertain significance Single submitter
-
ERCC3 p.Asp441Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Asp479Gly Uncertain significance Single submitter
- ERCC3 p.Asp81Asn Uncertain significance Single submitter
- ERCC3 p.Cys544Tyr Uncertain significance Single submitter
- ERCC3 p.Gln377Leu Uncertain significance Single submitter
-
ERCC3 p.Gln45Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERCC3 p.Gln635Arg
Uncertain significance
Single submitter
xeroderma pigmentosum
- ERCC3 p.Glu105Asp Uncertain significance Single submitter
-
ERCC3 p.Glu253Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Glu473Lys Uncertain significance Single submitter
- ERCC3 p.Glu495Gln Uncertain significance Single submitter
- ERCC3 p.Glu619Lys Uncertain significance Single submitter
- ERCC3 p.Glu654Asp Uncertain significance Single submitter
- ERCC3 p.Gly229Ala Uncertain significance Single submitter
-
ERCC3 p.Gly229Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Gly331Arg Uncertain significance Single submitter
- ERCC3 p.Gly331Val Uncertain significance Single submitter
-
ERCC3 p.Gly350Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Gly611Arg Uncertain significance Single submitter
-
ERCC3 p.His551Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.His629Leu Uncertain significance Single submitter
- ERCC3 p.His762Gln Uncertain significance Single submitter
- ERCC3 p.Ile384Phe Uncertain significance Single submitter
- ERCC3 p.Ile389Phe Uncertain significance Single submitter
- ERCC3 p.Ile401Val Uncertain significance Single submitter
- ERCC3 p.Ile446Val Uncertain significance Single submitter
- ERCC3 p.Ile484Thr Uncertain significance Single submitter
- ERCC3 p.Ile605Asn Uncertain significance Single submitter
-
ERCC3 p.Leu123Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Leu131Val Uncertain significance Single submitter
-
ERCC3 p.Leu340Phe
Uncertain significance
Single submitter
trichothiodystrophy 2, photosensitive
- ERCC3 p.Leu440Pro Uncertain significance Single submitter
- ERCC3 p.Leu713Ser Uncertain significance Single submitter
- ERCC3 p.Lys11Glu Uncertain significance Single submitter
- ERCC3 p.Lys241Glu Uncertain significance Single submitter
- ERCC3 p.Lys3Arg Uncertain significance Single submitter
- ERCC3 p.Lys688Asn Uncertain significance Single submitter
- ERCC3 p.Met255Ile Uncertain significance Single submitter
-
ERCC3 p.Met380Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERCC3 p.Met438Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERCC3 p.Met514Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Phe214Ser Uncertain significance Single submitter
- ERCC3 p.Phe297Cys Uncertain significance Single submitter
- ERCC3 p.Phe541Cys Uncertain significance Single submitter
- ERCC3 p.Phe546Leu Uncertain significance Single submitter
-
ERCC3 p.Phe89Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Pro245Ser Uncertain significance Single submitter
- ERCC3 p.Pro30Leu Uncertain significance Single submitter
- ERCC3 p.Pro30Ser Uncertain significance Single submitter
-
ERCC3 p.Pro312Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERCC3 p.Pro486Leu
Uncertain significance
Single submitter
trichothiodystrophy 2, photosensitive
- ERCC3 p.Pro578Leu Uncertain significance Single submitter
- ERCC3 p.Pro618Ser Uncertain significance Single submitter
-
ERCC3 p.Pro618Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Pro769Thr Uncertain significance Single submitter
- ERCC3 p.Ser128Ile Uncertain significance Single submitter
- ERCC3 p.Ser242Pro Uncertain significance Single submitter
- ERCC3 p.Ser323Asn Uncertain significance Single submitter
- ERCC3 p.Ser408Asn Uncertain significance Single submitter
-
ERCC3 p.Ser40Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Ser614Leu Uncertain significance Single submitter
- ERCC3 p.Ser632Phe Uncertain significance Single submitter
- ERCC3 p.Ser73Ala Uncertain significance Single submitter
-
ERCC3 p.Ser73Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Thr146Ile Uncertain significance Single submitter
- ERCC3 p.Thr160Ala Uncertain significance Single submitter
- ERCC3 p.Thr207Ser Uncertain significance Single submitter
- ERCC3 p.Thr223Ala Uncertain significance Single submitter
- ERCC3 p.Thr236Ala Uncertain significance Single submitter
- ERCC3 p.Thr469Asn Uncertain significance Single submitter
-
ERCC3 p.Thr584Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Thr674Ala Uncertain significance Single submitter
- ERCC3 p.Thr691Met Uncertain significance Single submitter
-
ERCC3 p.Trp435Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERCC3 p.Trp77Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Tyr116Cys Uncertain significance Single submitter
- ERCC3 p.Tyr319Cys Uncertain significance Single submitter
- ERCC3 p.Tyr489Cys Uncertain significance Single submitter
- ERCC3 p.Tyr519Asp Uncertain significance Single submitter
-
ERCC3 p.Val107Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERCC3 p.Val129Ala
Uncertain significance
Single submitter
xeroderma pigmentosum
-
ERCC3 p.Val184Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Val339Phe Uncertain significance Single submitter
Predictors split 100
The independent predictors disagree with each other — read with care.
-
ERCC3 p.Arg283His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.Arg743Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.Asn173Ser
Uncertain significance
Multiple submitters
trichothiodystrophy 2, photosensitive
-
ERCC3 p.Asn492Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.Asn576Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ERCC3 p.Asp754Asn Uncertain significance Multiple submitters
-
ERCC3 p.Gln154Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ERCC3 p.Gln388Arg Uncertain significance Multiple submitters
-
ERCC3 p.Glu697Lys
Uncertain significance
Multiple submitters
xeroderma pigmentosum group B
- ERCC3 p.Glu707Gly Uncertain significance Multiple submitters
-
ERCC3 p.Leu488Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.Lys117Arg
Uncertain significance
Multiple submitters
trichothiodystrophy 2, photosensitive
-
ERCC3 p.Lys359Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ERCC3 p.Lys431Gln Uncertain significance Multiple submitters
-
ERCC3 p.Met450Val
Uncertain significance
Multiple submitters
xeroderma pigmentosum group B
-
ERCC3 p.Ser704Leu
Benign/Likely benign
Multiple submitters
xeroderma pigmentosum
-
ERCC3 p.Thr232Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.Val129Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.Val339Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ERCC3 p.Val471Ile
Uncertain significance
Multiple submitters
xeroderma pigmentosum group B
-
ERCC3 p.Val716Ile
Uncertain significance
Multiple submitters
trichothiodystrophy 2, photosensitive
- ERCC3 p.Ala293Thr Uncertain significance Single submitter
-
ERCC3 p.Ala354Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Ala354Val Uncertain significance Single submitter
-
ERCC3 p.Ala423Thr
Benign
Single submitter
ovarian cancer
-
ERCC3 p.Ala543Gly
Uncertain significance
Single submitter
trichothiodystrophy 2, photosensitive
- ERCC3 p.Ala543Val Uncertain significance Single submitter
- ERCC3 p.Ala58Ser Uncertain significance Single submitter
-
ERCC3 p.Ala694Ser
Uncertain significance
Single submitter
xeroderma pigmentosum group B
-
ERCC3 p.Ala694Thr
Conflicting
Single submitter
xeroderma pigmentosum
- ERCC3 p.Arg195Gly Uncertain significance Single submitter
-
ERCC3 p.Arg283Cys
Conflicting
Single submitter
Inborn genetic diseases
- ERCC3 p.Arg425Gln Uncertain significance Single submitter
- ERCC3 p.Arg520Gln Uncertain significance Single submitter
-
ERCC3 p.Arg530Gln
Conflicting
Single submitter
Inborn genetic diseases
- ERCC3 p.Arg574Gln Uncertain significance Single submitter
- ERCC3 p.Arg736Ile Uncertain significance Single submitter
-
ERCC3 p.Arg743Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Arg765Trp Uncertain significance Single submitter
-
ERCC3 p.Arg779Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Arg779His Uncertain significance Single submitter
-
ERCC3 p.Asn366Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Asn539Ser Uncertain significance Single submitter
-
ERCC3 p.Asn603Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Asp243Tyr Uncertain significance Single submitter
-
ERCC3 p.Asp386Asn
Uncertain significance
Single submitter
xeroderma pigmentosum group B
- ERCC3 p.Asp395Asn Uncertain significance Single submitter
- ERCC3 p.Asp5Asn Uncertain significance Single submitter
- ERCC3 p.Asp700Tyr Uncertain significance Single submitter
- ERCC3 p.Asp70Glu Uncertain significance Single submitter
- ERCC3 p.Cys361Ser Uncertain significance Single submitter
-
ERCC3 p.Gln433Glu
Uncertain significance
Single submitter
xeroderma pigmentosum
- ERCC3 p.Gln591His Uncertain significance Single submitter
- ERCC3 p.Gln665Glu Uncertain significance Single submitter
- ERCC3 p.Gln714Glu Uncertain significance Single submitter
- ERCC3 p.Glu138Lys Uncertain significance Single submitter
- ERCC3 p.Glu275Gln Uncertain significance Single submitter
-
ERCC3 p.Glu275Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERCC3 p.Glu424Lys
Conflicting
Single submitter
ovarian cancer
-
ERCC3 p.Gly228Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Gly2Asp Uncertain significance Single submitter
-
ERCC3 p.Gly350Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Gly402Ser Uncertain significance Single submitter
-
ERCC3 p.Gly414Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Ile103Val Uncertain significance Single submitter
- ERCC3 p.Ile210Thr Uncertain significance Single submitter
- ERCC3 p.Ile306Val Uncertain significance Single submitter
- ERCC3 p.Ile439Met Uncertain significance Single submitter
-
ERCC3 p.Ile457Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Ile548Met Uncertain significance Single submitter
- ERCC3 p.Ile605Val Uncertain significance Single submitter
- ERCC3 p.Leu189Ile Uncertain significance Single submitter
-
ERCC3 p.Leu310Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Leu693Phe Uncertain significance Single submitter
- ERCC3 p.Leu76Val Uncertain significance Single submitter
- ERCC3 p.Lys117Asn Uncertain significance Single submitter
- ERCC3 p.Lys11Met Uncertain significance Single submitter
-
ERCC3 p.Lys12Asn
Benign
Single submitter
ovarian cancer
- ERCC3 p.Lys167Arg Uncertain significance Single submitter
-
ERCC3 p.Lys431Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ERCC3 p.Lys504Gln
Uncertain significance
Single submitter
xeroderma pigmentosum
- ERCC3 p.Lys557Arg Uncertain significance Single submitter
- ERCC3 p.Lys648Asn Uncertain significance Single submitter
-
ERCC3 p.Lys94Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Met276Ile Uncertain significance Single submitter
- ERCC3 p.Met494Val Uncertain significance Single submitter
- ERCC3 p.Met696Val Uncertain significance Single submitter
- ERCC3 p.Phe251Leu Uncertain significance Single submitter
- ERCC3 p.Pro769Leu Uncertain significance Single submitter
- ERCC3 p.Ser144Gly Uncertain significance Single submitter
-
ERCC3 p.Ser221Phe
Uncertain significance
Single submitter
xeroderma pigmentosum
- ERCC3 p.Ser737Cys Uncertain significance Single submitter
-
ERCC3 p.Thr213Ala
Uncertain significance
Single submitter
xeroderma pigmentosum
-
ERCC3 p.Thr445Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Thr445Ser Uncertain significance Single submitter
- ERCC3 p.Tyr95Cys Uncertain significance Single submitter
- ERCC3 p.Val193Met Uncertain significance Single submitter
- ERCC3 p.Val315Leu Uncertain significance Single submitter
-
ERCC3 p.Val53Met
Uncertain significance
Single submitter
Inborn genetic diseases
- ERCC3 p.Val757Glu Uncertain significance Single submitter
All ERCC3 variants
Pathogenic 37
- c.471+1G>A Multiple submitters xeroderma pigmentosum
- p.Arg195Ter Multiple submitters xeroderma pigmentosum
- p.Arg425Ter Multiple submitters trichothiodystrophy 2, photosensitive
- p.Gln154Ter Multiple submitters xeroderma pigmentosum group B
- p.Gln254Ter Multiple submitters xeroderma pigmentosum group B
- p.Ala562fs Single submitter
- p.Arg234Ter Single submitter
- p.Arg325Ter Single submitter
- p.Cys342fs Single submitter
- p.Cys342Ter Single submitter xeroderma pigmentosum
- p.Gln190Ter Single submitter
- p.Gln377Ter Single submitter
- p.Gln45Ter Single submitter
- p.Gln545Ter Single submitter xeroderma pigmentosum group B
- p.Gln591Ter Single submitter
- p.Glu278Ter Single submitter
- p.Glu288fs Single submitter
- p.Glu636fs Single submitter
- p.His112fs Single submitter
- p.His114fs Single submitter
- p.His461_Cys462insTer Single submitter
- p.Ile194fs Single submitter
- p.Ile244fs Single submitter
- p.Leu324fs Single submitter
- p.Lys217fs Single submitter
- p.Lys59fs Single submitter
- p.Phe99Ser Single submitter trichothiodystrophy 2, photosensitive
- p.Pro447fs Single submitter
- p.Ser221fs Single submitter
- p.Ser269_Phe270insTer Single submitter xeroderma pigmentosum group B
- p.Ser49Ter Single submitter
- p.Ser614Ter Single submitter xeroderma pigmentosum
- p.Trp77fs Single submitter
- p.Tyr121Ter Single submitter
- p.Val193fs Single submitter
- c.2218-6C>A No assertion criteria xeroderma pigmentosum group B
- p.Thr119Pro No assertion criteria trichothiodystrophy 2, photosensitive
Pathogenic/Likely pathogenic 11
- p.Arg109Ter Multiple submitters hereditary neoplastic syndrome
- p.Arg452Ter Multiple submitters xeroderma pigmentosum group B
- p.Arg530Ter Multiple submitters trichothiodystrophy 2, photosensitive
- p.Arg574Ter Multiple submitters trichothiodystrophy 2, photosensitive
- p.Asp474fs Multiple submitters Autosomal recessive ERCC3-related disorders
- p.Gln388Ter Multiple submitters trichothiodystrophy 2, photosensitive
- p.Gln586fs Multiple submitters Inborn genetic diseases
- p.Gln711Ter Multiple submitters Inborn genetic diseases
- p.Glu434Ter Multiple submitters xeroderma pigmentosum group B
- p.Trp374Ter Multiple submitters trichothiodystrophy 2, photosensitive
- p.Tyr579fs Multiple submitters
Likely pathogenic 14
- c.1828-1G>C Multiple submitters xeroderma pigmentosum group B
- c.657+1G>A Multiple submitters trichothiodystrophy 2, photosensitive
- c.1028-2A>G Single submitter
- c.1731-2A>G Single submitter
- c.1827+2T>G Single submitter
- c.2065-1G>C Single submitter xeroderma pigmentosum group B
- c.235-1G>A Single submitter xeroderma pigmentosum
- p.Arg645Ter Single submitter xeroderma pigmentosum group B
- p.Asp237fs Single submitter xeroderma pigmentosum group B
- p.Asp81fs Single submitter xeroderma pigmentosum group B
- p.Glu372fs Single submitter trichothiodystrophy 2, photosensitive
- p.Gly611fs Single submitter trichothiodystrophy 2, photosensitive
- p.Ile156Val Single submitter ovarian cancer ⚠
- p.Met650fs Single submitter
Conflicting classifications of pathogenicity 31
- c.1731-11T>C Single submitter xeroderma pigmentosum group B
- c.2064+5A>G Single submitter xeroderma pigmentosum
- c.2218-5G>A Single submitter xeroderma pigmentosum group B
- c.2218-6C>T Single submitter xeroderma pigmentosum
- c.28+8G>A Single submitter xeroderma pigmentosum group B
- c.472-10G>A Single submitter xeroderma pigmentosum
- c.657+15G>A Single submitter xeroderma pigmentosum group B
- c.658-7C>G Single submitter xeroderma pigmentosum
- c.822+14C>T Single submitter xeroderma pigmentosum group B
- p.Ala206= Single submitter xeroderma pigmentosum group B
- p.Ala637= Single submitter xeroderma pigmentosum
- p.Ala694Thr Single submitter xeroderma pigmentosum ⚠
- p.Ala702= Single submitter xeroderma pigmentosum
- p.Arg283Cys Single submitter Inborn genetic diseases ⚠
- p.Arg360His Single submitter ovarian cancer ⚠
- p.Arg530Gln Single submitter Inborn genetic diseases ⚠
- p.Arg742= Single submitter xeroderma pigmentosum
- p.Asp24Glu Single submitter Inborn genetic diseases ⚠
- p.Asp385= Single submitter xeroderma pigmentosum
- p.Cys342= Single submitter xeroderma pigmentosum group B
- p.Glu424Lys Single submitter ovarian cancer ⚠
- p.Glu588fs Single submitter xeroderma pigmentosum group B
- p.Glu654Lys Single submitter Inborn genetic diseases ⚠
- p.Ile384= Single submitter xeroderma pigmentosum group B
- p.Ile457= Single submitter xeroderma pigmentosum group B
- p.Pro618= Single submitter xeroderma pigmentosum
- p.Ser335Leu Single submitter ⚠
- p.Ser370= Single submitter xeroderma pigmentosum group B
- p.Ser394= Single submitter xeroderma pigmentosum group B
- p.Tyr139= Single submitter trichothiodystrophy 2, photosensitive
- p.Val643= Single submitter xeroderma pigmentosum group B
Benign 35
- c.1342+231C>A Multiple submitters
- c.1827+64A>G Multiple submitters
- c.1945+120A>G Multiple submitters
- c.1946-256C>G Multiple submitters
- c.2064+282A>G Multiple submitters
- c.2218-64G>A Multiple submitters
- c.2218-91G>A Multiple submitters
- c.235-61A>G Multiple submitters
- c.471+118G>A Multiple submitters
- c.471+186T>C Multiple submitters
- c.471+52A>G Multiple submitters
- c.472-293G>A Multiple submitters
- c.658-24G>C Multiple submitters
- c.*177A>G Multiple submitters xeroderma pigmentosum group B
- c.*259G>A Multiple submitters xeroderma pigmentosum group B
- p.Glu205= Multiple submitters xeroderma pigmentosum group B
- c.1527+10C>T Single submitter
- c.1528-11C>T Single submitter
- c.1528-192C>A Single submitter
- c.1528-250C>T Single submitter
- c.1730+266C>T Single submitter
- c.1828-32A>T Single submitter xeroderma pigmentosum group B
- c.1828-33C>T Single submitter xeroderma pigmentosum group B
- c.1828-35C>T Single submitter xeroderma pigmentosum group B
- c.1828-36C>T Single submitter xeroderma pigmentosum group B
- c.1828-37del Single submitter
- c.1946-8dup Single submitter
- c.2064+334_2064+343del Single submitter
- c.472-99G>T Single submitter
- c.522-10C>G Single submitter
- c.823-108G>T Single submitter
- p.Ala423Thr Single submitter ovarian cancer ⚠
- p.Lys12Asn Single submitter ovarian cancer ⚠
- p.Met590Arg Single submitter ovarian cancer
- p.Ser735Pro Single submitter
Benign/Likely benign 13
- c.1027+3A>G Multiple submitters xeroderma pigmentosum group B
- c.1730+16T>G Multiple submitters xeroderma pigmentosum group B
- c.29-15G>T Multiple submitters xeroderma pigmentosum group B
- c.-69C>T Multiple submitters xeroderma pigmentosum group B
- c.-98A>G Multiple submitters xeroderma pigmentosum group B
- c.*29C>T Multiple submitters xeroderma pigmentosum group B
- p.Gln373= Multiple submitters xeroderma pigmentosum group B
- p.Glu495= Multiple submitters xeroderma pigmentosum group B
- p.Gly336= Multiple submitters xeroderma pigmentosum
- p.Ser242= Multiple submitters
- p.Ser704Leu Multiple submitters xeroderma pigmentosum ⚠
- p.Thr445= Multiple submitters xeroderma pigmentosum group B
- p.Tyr581= Multiple submitters
Likely benign 236
- c.1528-9G>A Multiple submitters xeroderma pigmentosum
- c.1731-148A>C Multiple submitters
- c.472-200G>A Multiple submitters
- c.*106T>C Multiple submitters xeroderma pigmentosum group B
- p.Ala37= Multiple submitters xeroderma pigmentosum
- p.Asn499= Multiple submitters xeroderma pigmentosum
- p.His112= Multiple submitters
- p.Ile401= Multiple submitters
- p.Leu143= Multiple submitters xeroderma pigmentosum
- p.Leu310= Multiple submitters
- p.Leu483= Multiple submitters xeroderma pigmentosum
- p.Leu712= Multiple submitters
- p.Lys59= Multiple submitters
- p.Lys778= Multiple submitters xeroderma pigmentosum
- p.Pro192= Multiple submitters
- p.Ser335= Multiple submitters
- p.Ser404= Multiple submitters
- p.Ser614= Multiple submitters
- p.Ser704= Multiple submitters xeroderma pigmentosum
- p.Thr527= Multiple submitters
- p.Val351= Multiple submitters xeroderma pigmentosum
- c.1027+13A>G Single submitter
- c.1027+17_1027+18del Single submitter
- c.1027+20A>C Single submitter
- c.1027+269G>A Single submitter
- c.1027+8G>A Single submitter
- c.1028-12del Single submitter
- c.1028-19G>A Single submitter
- c.1342+157del Single submitter
- c.1342+19A>G Single submitter
- c.1342+8G>T Single submitter
- c.1343-19G>A Single submitter
- c.1343-280C>T Single submitter
- c.1527+269G>T Single submitter
- c.1528-15C>T Single submitter
- c.1528-16_1528-8del Single submitter
- c.1528-4A>G Single submitter
- c.1730+11A>C Single submitter
- c.1730+17T>G Single submitter
- c.1730+18G>A Single submitter
- c.1730+8T>C Single submitter
- c.1731-17G>A Single submitter
- c.1731-196G>A Single submitter
- c.1731-251T>G Single submitter
- c.1731-59T>G Single submitter
- c.1731-6C>G Single submitter
- c.1731-6C>T Single submitter
- c.1827+10G>A Single submitter
- c.1827+14A>G Single submitter
- c.1827+15T>C Single submitter
- c.1827+19G>A Single submitter
- c.1827+267C>T Single submitter
- c.1828-7T>C Single submitter
- c.1945+10C>A Single submitter
- c.1945+10C>G Single submitter
- c.1945+16A>C Single submitter
- c.1945+6_1945+14del Single submitter
- c.1946-18T>C Single submitter
- c.1946-6C>A Single submitter
- c.1946-9T>A Single submitter
- c.2064+8T>A Single submitter
- c.2065-16G>A Single submitter
- c.2065-267A>G Single submitter
- c.2065-6T>G Single submitter
- c.2218-10T>A Single submitter
- c.2218-11C>T Single submitter
- c.2218-16T>A Single submitter
- c.2218-17T>C Single submitter
- c.2218-18G>C Single submitter
- c.2218-8C>G Single submitter
- c.2218-8C>T Single submitter
- c.234+10C>T Single submitter
- c.234+4_234+7dup Single submitter
- c.234+9G>T Single submitter
- c.235-11G>A Single submitter
- c.235-16A>T Single submitter
- c.235-18C>T Single submitter
- c.235-215A>G Single submitter
- c.235-7C>T Single submitter
- c.28+11G>A Single submitter
- c.28+11G>C Single submitter
- c.28+14C>T Single submitter
- c.28+15G>C Single submitter
- c.28+15G>T Single submitter
- c.28+17G>C Single submitter
- c.28+19A>G Single submitter
- c.28+20C>T Single submitter
- c.29-10T>C Single submitter
- c.29-18T>G Single submitter
- c.29-19C>T Single submitter
- c.29-23_29-20del Single submitter
- c.29-87C>T Single submitter
- c.29-9A>G Single submitter
- c.471+13T>C Single submitter
- c.471+20A>G Single submitter
- c.472-12C>T Single submitter
- c.472-20G>A Single submitter
- c.472-8A>C Single submitter
- c.521+11C>G Single submitter
- c.521+11C>T Single submitter
- c.521+16A>G Single submitter
- c.522-11C>T Single submitter
- c.522-8G>C Single submitter
- c.657+11T>C Single submitter
- c.657+16G>C Single submitter
- c.658-11C>G Single submitter
- c.658-15C>T Single submitter
- c.822+13A>G Single submitter
- c.822+17del Single submitter
- c.823-15G>A Single submitter
- c.823-177G>T Single submitter
- c.823-20C>T Single submitter
- c.823-8C>T Single submitter
- c.-19C>T Single submitter xeroderma pigmentosum group B
- p.Ala102= Single submitter
- p.Ala314= Single submitter
- p.Ala354= Single submitter
- p.Ala42= Single submitter
- p.Ala503= Single submitter
- p.Ala694= Single submitter
- p.Ala7= Single submitter
- p.Ala724= Single submitter
- p.Ala753= Single submitter
- p.Ala768= Single submitter
- p.Ala96= Single submitter
- p.Arg15= Single submitter
- p.Arg17= Single submitter
- p.Arg334= Single submitter
- p.Arg425= Single submitter
- p.Arg472= Single submitter
- p.Arg530= Single submitter
- p.Arg642= Single submitter
- p.Arg676= Single submitter
- p.Arg765= Single submitter
- p.Asn307= Single submitter
- p.Asn32= Single submitter
- p.Asn330= Single submitter
- p.Asn656= Single submitter
- p.Asp183= Single submitter
- p.Asp247= Single submitter
- p.Asp25= Single submitter
- p.Asp309= Single submitter
- p.Asp5= Single submitter
- p.Asp563= Single submitter
- p.Asp666= Single submitter
- p.Asp721= Single submitter
- p.Asp754= Single submitter
- p.Cys180= Single submitter
- p.Cys355= Single submitter
- p.Gln35= Single submitter
- p.Gln433= Single submitter
- p.Glu105= Single submitter
- p.Glu264= Single submitter
- p.Glu288= Single submitter
- p.Glu294= Single submitter xeroderma pigmentosum
- p.Glu372= Single submitter
- p.Glu434= Single submitter
- p.Glu636= Single submitter
- p.Glu654= Single submitter
- p.Glu87= Single submitter
- p.Gly164= Single submitter
- p.Gly465= Single submitter
- p.Gly50= Single submitter
- p.Gly649= Single submitter xeroderma pigmentosum
- p.His114= Single submitter
- p.His415= Single submitter
- p.Ile185= Single submitter
- p.Ile210= Single submitter
- p.Ile389= Single submitter
- p.Leu118= Single submitter
- p.Leu170= Single submitter
- p.Leu189= Single submitter
- p.Leu316= Single submitter
- p.Leu362= Single submitter
- p.Leu413= Single submitter
- p.Leu455= Single submitter
- p.Leu464= Single submitter
- p.Leu470= Single submitter
- p.Leu533= Single submitter
- p.Leu568= Single submitter
- p.Leu575= Single submitter
- p.Leu640= Single submitter
- p.Leu662= Single submitter
- p.Leu693= Single submitter
- p.Lys142= Single submitter
- p.Lys16= Single submitter
- p.Lys346= Single submitter
- p.Lys44= Single submitter
- p.Lys463= Single submitter
- p.Lys647= Single submitter
- p.Lys767= Single submitter
- p.Phe176= Single submitter
- p.Phe251= Single submitter
- p.Phe297= Single submitter
- p.Phe659= Single submitter
- p.Phe703= Single submitter
- p.Pro110= Single submitter
- p.Pro230= Single submitter
- p.Pro341= Single submitter
- p.Pro66= Single submitter
- p.Pro75= Single submitter
- p.Pro775= Single submitter
- p.Pro80= Single submitter
- p.Ser128= Single submitter
- p.Ser382= Single submitter
- p.Ser40= Single submitter
- p.Ser408= Single submitter
- p.Ser585= Single submitter
- p.Ser735= Single submitter
- p.Ser749= Single submitter
- p.Ser751= Single submitter
- p.Ser764= Single submitter
- p.Thr137= Single submitter xeroderma pigmentosum
- p.Thr267= Single submitter
- p.Thr409= Single submitter
- p.Thr535= Single submitter
- p.Thr584= Single submitter
- p.Thr674= Single submitter
- p.Thr691= Single submitter
- p.Thr72= Single submitter
- p.Tyr116= Single submitter
- p.Tyr489= Single submitter
- p.Tyr522= Single submitter
- p.Tyr579= Single submitter
- p.Tyr672= Single submitter
- p.Tyr93= Single submitter
- p.Val148= Single submitter
- p.Val166= Single submitter
- p.Val272= Single submitter
- p.Val371= Single submitter
- p.Val405Ile Single submitter Inborn genetic diseases
- p.Val443= Single submitter
- p.Val505= Single submitter
- p.Val681= Single submitter
- p.Val729= Single submitter
- p.Ala41= No assertion criteria ERCC3-related disorder
Uncertain significance 273
- p.Ala120Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala567Val Multiple submitters ⚠
- p.Arg109Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg234Gln Multiple submitters xeroderma pigmentosum group B ⚠
- p.Arg283His Multiple submitters Inborn genetic diseases ⚠
- p.Arg360Cys Multiple submitters xeroderma pigmentosum group B ⚠
- p.Arg453Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg634Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg742Trp Multiple submitters xeroderma pigmentosum group B ⚠
- p.Arg743Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asn173Ser Multiple submitters trichothiodystrophy 2, photosensitive ⚠
- p.Asn492Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn576Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp666Asn Multiple submitters trichothiodystrophy 2, photosensitive ⚠
- p.Asp754Asn Multiple submitters ⚠
- p.Asp755Asn Multiple submitters ⚠
- p.Gln154Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln388Arg Multiple submitters ⚠
- p.Glu105Gly Multiple submitters xeroderma pigmentosum group B ⚠
- p.Glu264_Thr265insGlu Multiple submitters
- p.Glu48Asp Multiple submitters xeroderma pigmentosum group B ⚠
- p.Glu48Gly Multiple submitters xeroderma pigmentosum ⚠
- p.Glu517Lys Multiple submitters xeroderma pigmentosum ⚠
- p.Glu697Lys Multiple submitters xeroderma pigmentosum group B ⚠
- p.Glu707Gly Multiple submitters ⚠
- p.Gly587Glu Multiple submitters Inborn genetic diseases ⚠
- p.His762Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile220Ser Multiple submitters ⚠
- p.Leu488Ile Multiple submitters Inborn genetic diseases ⚠
- p.Lys117Arg Multiple submitters trichothiodystrophy 2, photosensitive ⚠
- p.Lys11Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys359Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys431Gln Multiple submitters ⚠
- p.Lys449Arg Multiple submitters ⚠
- p.Lys44Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met450Val Multiple submitters xeroderma pigmentosum group B ⚠
- p.Met514Val Multiple submitters Inborn genetic diseases ⚠
- p.Met696Arg Multiple submitters xeroderma pigmentosum group B ⚠
- p.Met750Leu Multiple submitters Inborn genetic diseases ⚠
- p.Met750Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe297Ser Multiple submitters ⚠
- p.Phe85Cys Multiple submitters Inborn genetic diseases ⚠
- p.Pro75Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr232Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr417Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr720Ser Multiple submitters Inborn genetic diseases ⚠
- p.Val129Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val177Ile Multiple submitters xeroderma pigmentosum group B ⚠
- p.Val339Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val471Ile Multiple submitters xeroderma pigmentosum group B ⚠
- p.Val716Ile Multiple submitters trichothiodystrophy 2, photosensitive ⚠
- c.1342+6C>G Single submitter
- c.1343-10G>C Single submitter xeroderma pigmentosum
- c.1527+3A>G Single submitter
- c.2064+4C>T Single submitter
- c.234+4del Single submitter
- c.471+4A>G Single submitter
- c.521+3A>C Single submitter
- c.522-3C>G Single submitter
- c.658-3C>G Single submitter
- c.822+5G>A Single submitter
- c.-31G>A Single submitter xeroderma pigmentosum group B
- c.*138G>C Single submitter xeroderma pigmentosum group B
- c.*220G>C Single submitter xeroderma pigmentosum group B
- c.*242dup Single submitter
- c.*83C>T Single submitter xeroderma pigmentosum group B
- p.21DEED[1] Single submitter
- p.Ala219= Single submitter
- p.Ala219Thr Single submitter ⚠
- p.Ala293Thr Single submitter ⚠
- p.Ala353Pro Single submitter ⚠
- p.Ala354Thr Single submitter Inborn genetic diseases ⚠
- p.Ala354Val Single submitter ⚠
- p.Ala37Thr Single submitter ⚠
- p.Ala41Val Single submitter xeroderma pigmentosum ⚠
- p.Ala423Val Single submitter ⚠
- p.Ala460Ser Single submitter ⚠
- p.Ala468Val Single submitter ⚠
- p.Ala503Thr Single submitter ⚠
- p.Ala543Gly Single submitter trichothiodystrophy 2, photosensitive ⚠
- p.Ala543Val Single submitter ⚠
- p.Ala58Ser Single submitter ⚠
- p.Ala620Glu Single submitter Inborn genetic diseases ⚠
- p.Ala652Thr Single submitter ⚠
- p.Ala694Ser Single submitter xeroderma pigmentosum group B ⚠
- p.Ala702Val Single submitter ⚠
- p.Ala768Gly Single submitter ⚠
- p.Ala768Val Single submitter ⚠
- p.Ala7Val Single submitter ⚠
- p.Arg195Gly Single submitter ⚠
- p.Arg195Leu Single submitter ⚠
- p.Arg198His Single submitter ⚠
- p.Arg298Trp Single submitter ⚠
- p.Arg332Pro Single submitter Inborn genetic diseases ⚠
- p.Arg334Gly Single submitter ⚠
- p.Arg334His Single submitter Inborn genetic diseases ⚠
- p.Arg425Gln Single submitter ⚠
- p.Arg472His Single submitter ⚠
- p.Arg520Gln Single submitter ⚠
- p.Arg520Gly Single submitter ⚠
- p.Arg520Trp Single submitter ⚠
- p.Arg574Gln Single submitter ⚠
- p.Arg633Ser Single submitter Inborn genetic diseases ⚠
- p.Arg642Gln Single submitter ⚠
- p.Arg642Trp Single submitter ⚠
- p.Arg645Gln Single submitter xeroderma pigmentosum group B ⚠
- p.Arg645Gly Single submitter ⚠
- p.Arg676Trp Single submitter ⚠
- p.Arg736Ile Single submitter ⚠
- p.Arg736Ser Single submitter ⚠
- p.Arg743Leu Single submitter Inborn genetic diseases ⚠
- p.Arg74Met Single submitter Inborn genetic diseases ⚠
- p.Arg765Gln Single submitter ⚠
- p.Arg765Trp Single submitter ⚠
- p.Arg779Cys Single submitter Inborn genetic diseases ⚠
- p.Arg779His Single submitter ⚠
- p.Arg781Gly Single submitter Inborn genetic diseases ⚠
- p.Asn366Lys Single submitter Inborn genetic diseases ⚠
- p.Asn539Ser Single submitter ⚠
- p.Asn603Ser Single submitter Inborn genetic diseases ⚠
- p.Asn603Thr Single submitter Inborn genetic diseases ⚠
- p.Asn603Tyr Single submitter ⚠
- p.Asp191Asn Single submitter Inborn genetic diseases ⚠
- p.Asp243Tyr Single submitter ⚠
- p.Asp256Glu Single submitter ⚠
- p.Asp386Asn Single submitter xeroderma pigmentosum group B ⚠
- p.Asp395Asn Single submitter ⚠
- p.Asp441Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp479Gly Single submitter ⚠
- p.Asp5Asn Single submitter ⚠
- p.Asp700Tyr Single submitter ⚠
- p.Asp70Glu Single submitter ⚠
- p.Asp81Asn Single submitter ⚠
- p.Cys361Ser Single submitter ⚠
- p.Cys544Tyr Single submitter ⚠
- p.Gln377Leu Single submitter ⚠
- p.Gln433Glu Single submitter xeroderma pigmentosum ⚠
- p.Gln45Pro Single submitter Inborn genetic diseases ⚠
- p.Gln545= Single submitter xeroderma pigmentosum
- p.Gln591His Single submitter ⚠
- p.Gln635Arg Single submitter xeroderma pigmentosum ⚠
- p.Gln665Glu Single submitter ⚠
- p.Gln714Glu Single submitter ⚠
- p.Glu105Asp Single submitter ⚠
- p.Glu138Lys Single submitter ⚠
- p.Glu23_Asp24insGluAspGluGlu Single submitter
- p.Glu253Lys Single submitter Inborn genetic diseases ⚠
- p.Glu263_Glu264del Single submitter
- p.Glu264_Thr265insGluGlu Single submitter
- p.Glu264del Single submitter
- p.Glu275Gln Single submitter ⚠
- p.Glu275Gly Single submitter Inborn genetic diseases ⚠
- p.Glu473Lys Single submitter ⚠
- p.Glu495Gln Single submitter ⚠
- p.Glu619Lys Single submitter ⚠
- p.Glu654Asp Single submitter ⚠
- p.Gly228Cys Single submitter Inborn genetic diseases ⚠
- p.Gly229Ala Single submitter ⚠
- p.Gly229Glu Single submitter Inborn genetic diseases ⚠
- p.Gly2Asp Single submitter ⚠
- p.Gly331Arg Single submitter ⚠
- p.Gly331Val Single submitter ⚠
- p.Gly350Ser Single submitter Inborn genetic diseases ⚠
- p.Gly350Val Single submitter Inborn genetic diseases ⚠
- p.Gly402Ser Single submitter ⚠
- p.Gly414Ser Single submitter Inborn genetic diseases ⚠
- p.Gly611Arg Single submitter ⚠
- p.His551Arg Single submitter Inborn genetic diseases ⚠
- p.His629Leu Single submitter ⚠
- p.His762Gln Single submitter ⚠
- p.Ile103Val Single submitter ⚠
- p.Ile156del Single submitter
- p.Ile210Thr Single submitter ⚠
- p.Ile306Val Single submitter ⚠
- p.Ile384Phe Single submitter ⚠
- p.Ile389Phe Single submitter ⚠
- p.Ile401Val Single submitter ⚠
- p.Ile439Met Single submitter ⚠
- p.Ile446Val Single submitter ⚠
- p.Ile457Val Single submitter Inborn genetic diseases ⚠
- p.Ile484Thr Single submitter ⚠
- p.Ile548Met Single submitter ⚠
- p.Ile605Asn Single submitter ⚠
- p.Ile605Val Single submitter ⚠
- p.Leu123Val Single submitter Inborn genetic diseases ⚠
- p.Leu131Val Single submitter ⚠
- p.Leu189Ile Single submitter ⚠
- p.Leu310Ile Single submitter Inborn genetic diseases ⚠
- p.Leu340Phe Single submitter trichothiodystrophy 2, photosensitive ⚠
- p.Leu440Pro Single submitter ⚠
- p.Leu693Phe Single submitter ⚠
- p.Leu713Ser Single submitter ⚠
- p.Leu76Val Single submitter ⚠
- p.Lys117Asn Single submitter ⚠
- p.Lys11Glu Single submitter ⚠
- p.Lys11Met Single submitter ⚠
- p.Lys167Arg Single submitter ⚠
- p.Lys241Glu Single submitter ⚠
- p.Lys3Arg Single submitter ⚠
- p.Lys431Glu Single submitter Inborn genetic diseases ⚠
- p.Lys504Gln Single submitter xeroderma pigmentosum ⚠
- p.Lys557Arg Single submitter ⚠
- p.Lys648Asn Single submitter ⚠
- p.Lys688Asn Single submitter ⚠
- p.Lys94Arg Single submitter Inborn genetic diseases ⚠
- p.Met255Ile Single submitter ⚠
- p.Met276Ile Single submitter ⚠
- p.Met380Lys Single submitter Inborn genetic diseases ⚠
- p.Met438Leu Single submitter Inborn genetic diseases ⚠
- p.Met494Val Single submitter ⚠
- p.Met514Thr Single submitter Inborn genetic diseases ⚠
- p.Met696Val Single submitter ⚠
- p.Met759_Tyr761del Single submitter xeroderma pigmentosum group B
- p.Phe214Ser Single submitter ⚠
- p.Phe251Leu Single submitter ⚠
- p.Phe297Cys Single submitter ⚠
- p.Phe541Cys Single submitter ⚠
- p.Phe546Leu Single submitter ⚠
- p.Phe89Val Single submitter Inborn genetic diseases ⚠
- p.Pro245Ser Single submitter ⚠
- p.Pro30Leu Single submitter ⚠
- p.Pro30Ser Single submitter ⚠
- p.Pro312Leu Single submitter Inborn genetic diseases ⚠
- p.Pro447= Single submitter
- p.Pro486Leu Single submitter trichothiodystrophy 2, photosensitive ⚠
- p.Pro578Leu Single submitter ⚠
- p.Pro618Ser Single submitter ⚠
- p.Pro618Thr Single submitter Inborn genetic diseases ⚠
- p.Pro769Leu Single submitter ⚠
- p.Pro769Thr Single submitter ⚠
- p.Ser128Ile Single submitter ⚠
- p.Ser144Gly Single submitter ⚠
- p.Ser221Phe Single submitter xeroderma pigmentosum ⚠
- p.Ser227del Single submitter
- p.Ser242Pro Single submitter ⚠
- p.Ser323Asn Single submitter ⚠
- p.Ser408Asn Single submitter ⚠
- p.Ser40Leu Single submitter Inborn genetic diseases ⚠
- p.Ser614Leu Single submitter ⚠
- p.Ser632Phe Single submitter ⚠
- p.Ser737Cys Single submitter ⚠
- p.Ser73Ala Single submitter ⚠
- p.Ser73Cys Single submitter Inborn genetic diseases ⚠
- p.Thr146Ile Single submitter ⚠
- p.Thr160Ala Single submitter ⚠
- p.Thr207Ser Single submitter ⚠
- p.Thr213Ala Single submitter xeroderma pigmentosum ⚠
- p.Thr223Ala Single submitter ⚠
- p.Thr236Ala Single submitter ⚠
- p.Thr445Ala Single submitter Inborn genetic diseases ⚠
- p.Thr445Ser Single submitter ⚠
- p.Thr469Asn Single submitter ⚠
- p.Thr584Ala Single submitter Inborn genetic diseases ⚠
- p.Thr674Ala Single submitter ⚠
- p.Thr691Met Single submitter ⚠
- p.Trp435Arg Single submitter Inborn genetic diseases ⚠
- p.Trp77Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr116Cys Single submitter ⚠
- p.Tyr319Cys Single submitter ⚠
- p.Tyr489Cys Single submitter ⚠
- p.Tyr519Asp Single submitter ⚠
- p.Tyr95Cys Single submitter ⚠
- p.Val107Gly Single submitter Inborn genetic diseases ⚠
- p.Val129Ala Single submitter xeroderma pigmentosum ⚠
- p.Val184Ile Single submitter Inborn genetic diseases ⚠
- p.Val193Met Single submitter ⚠
- p.Val315Leu Single submitter ⚠
- p.Val337= Single submitter xeroderma pigmentosum
- p.Val339Phe Single submitter ⚠
- p.Val53Met Single submitter Inborn genetic diseases ⚠
- p.Val565Ala Single submitter Inborn genetic diseases ⚠
- p.Val728Met Single submitter ⚠
- p.Val757Glu Single submitter ⚠