MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:12922
Name:Xeroderma Pigmentosum, Complementation Group D
Definition:
Alternative IDs:OMIM:278730
ParentIDs:MESH:D014983
TreeNumbers:C04.834.867/C562591 |C16.131.831.936/C562591 |C16.320.850.970/C562591 |C17.800.600.925/C562591 |C17.800.621.936/C562591 |C17.800.804.936/C562591 |C17.800.827.970/C562591 |C18.452.284.975/C562591
Synonyms:Xeroderma Pigmentosum IV |XP4 |XP4 XERODERMA PIGMENTOSUM VIII, FORMERLY |XP8, FORMERLY |XPD |XPDC |XP, Group D |XP, GROUP H, FORMERLY |XPH, FORMERLY
Slim Mappings:Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease
Reference: MedGen: C562591
MeSH: C562591
OMIM: 278730;
MSeqDR LSDB:  
Genes: ERCC2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001251Ataxia
3 HP:0001266Choreoathetosis
4 HP:0000509Conjunctivitis
5 HP:0011496Corneal neovascularizationHP:0040283
6 HP:0000992Cutaneous photosensitivity
7 HP:0003079Defective DNA repair after ultraviolet radiation damage
8 HP:0004334Dermal atrophy
9 HP:0000656Ectropion
10 HP:0000621Entropion
11 HP:0001265Hyporeflexia
12 HP:0001249Intellectual disability
13 HP:0000491Keratitis
14 HP:0001097Keratoconjunctivitis siccaHP:0040283
15 HP:0001268Mental deterioration
16 HP:0000252Microcephaly
17 HP:0000568Microphthalmia
18 HP:0000613Photophobia
19 HP:0001029Poikiloderma
20 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
21 HP:0001257Spasticity
NAMDC:  Spasticity
22 HP:0001009Telangiectasia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001983.4(ERCC1):c.422del (p.Leu141fs)2067ERCC1Uncertain significancers1568585641RCV000779261; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194592358545923585GAGNC_000019.9:g.45923585del-
NM_001983.4(ERCC1):c.122_123dup (p.Ser42fs)2067ERCC1Uncertain significancers1231361408RCV000779262; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194592463345924634AATCNC_000019.9:g.45924634_45924635dup-
NM_000400.4(ERCC2):c.*224C>T2068ERCC2Uncertain significancers771414914RCV001128894; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585466345854663GA19:g.45854663G>A-
NM_000400.4(ERCC2):c.*216G>A2068ERCC2Likely benignrs534559459RCV001128895; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585467145854671CT19:g.45854671C>T-
NM_000400.4(ERCC2):c.*181G>T2068ERCC2Uncertain significancers1048488855RCV001128896; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585470645854706CA19:g.45854706C>A-
NM_000400.4(ERCC2):c.*172G>A2068ERCC2Likely benignrs142103003RCV000271335; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585471545854715CTNC_000019.9:g.45854715C>TClinGen:CA10648816C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.*171G>C2068ERCC2Benignrs3916891RCV000328726; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585471645854716CGNC_000019.9:g.45854716C>GClinGen:CA10642959C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.*167C>T2068ERCC2Uncertain significancers200355865RCV001131560; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585472045854720GA19:g.45854720G>A-
NM_000400.4(ERCC2):c.*162G>T2068ERCC2Uncertain significancers1162168169RCV001131561; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585472545854725CA19:g.45854725C>A-
NM_000400.4(ERCC2):c.*152T>C2068ERCC2Uncertain significancers140285667RCV000381238; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585473545854735AGNC_000019.9:g.45854735A>GClinGen:CA10652525C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.*137G>A2068ERCC2Uncertain significancers545076380RCV001131562; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585475045854750CT19:g.45854750C>T-
NM_000400.4(ERCC2):c.*119C>G2068ERCC2Uncertain significancers560366651RCV000289167; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585476845854768GCNC_000019.9:g.45854768G>CClinGen:CA10652526C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.*78C>A2068ERCC2Uncertain significancers544163707RCV001131563; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585480945854809GT19:g.45854809G>T-
NM_000400.4(ERCC2):c.*70C>T2068ERCC2Uncertain significancers3916889RCV001131564; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585481745854817GA19:g.45854817G>A-
NM_000400.4(ERCC2):c.*68G>A2068ERCC2Uncertain significancers565650029RCV001132596; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585481945854819CT19:g.45854819C>T-
NM_000400.4(ERCC2):c.*31G>A2068ERCC2Uncertain significancers886054494RCV000341702; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585485645854856CTNC_000019.9:g.45854856C>TClinGen:CA10652527C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.2278C>T (p.Leu760Phe)2068ERCC2Uncertain significancers1971782991RCV001132597; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585489245854892GA19:g.45854892G>A-
NM_000400.4(ERCC2):c.2260G>C (p.Glu754Gln)2068ERCC2Uncertain significancers200022901RCV000379994|RCV001351124; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585491045854910CGNC_000019.9:g.45854910C>GClinGen:CA9512797C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)2068ERCC2Benign/Likely benignrs13181RCV000120777|RCV000282755|RCV000418924|RCV000436606|RCV001514550|RCV001657757|RCV001657758; NMedGen:CN169374|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|Human Phenotype Ontology:HP:0030358,MONDO:MONDO:0005233,MeSH:D002289,MedGen:C0007131|MONDO:MONDO:0002629,MeSH:D012516,MedGen:C0585442,OMIM:259500, Orphanet:668|MedGen:CN517202|MONDO:MONDO:00194585491945854919TG19:g.45854919T>GClinGen:CA158782,UniProtKB:P18074#VAR_011416C0007131 Non-small cell lung cancer;
NM_000400.4(ERCC2):c.2247G>A (p.Thr749=)2068ERCC2Conflicting interpretations of pathogenicityrs200756227RCV001132598|RCV002070546; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585492345854923CT19:g.45854923C>T-
NM_000400.4(ERCC2):c.2231T>C (p.Leu744Pro)2068ERCC2Uncertain significancers201370106RCV000120779|RCV001132599; NMedGen:CN169374|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585493945854939AG19:g.45854939A>GClinGen:CA158788CN169374 not specified;
NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly)2068ERCC2Conflicting interpretations of pathogenicity-1RCV001761786|RCV001788837|RCV002077207; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MedGen:CN517202194585497545854975TC45854975-
NM_000400.4(ERCC2):c.2191-3C>T2068ERCC2Uncertain significancers748611039RCV000340106; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585498245854982GANC_000019.9:g.45854982G>AClinGen:CA9512819C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.2191-4G>A2068ERCC2Conflicting interpretations of pathogenicityrs201840907RCV000967520|RCV001135983|RCV001294171; NMedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194585498345854983CT19:g.45854983C>T-
NM_000400.4(ERCC2):c.2191-11G>A2068ERCC2Uncertain significance-1RCV001761787; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585499045854990CT45854990-
NM_000400.4(ERCC2):c.2190+12G>A2068ERCC2Benignrs3916881RCV000254008|RCV000408159|RCV001522525; NMedGen:CN169374|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585545545855455CT19:g.45855455C>TClinGen:CA9512854CN169374 not specified;
NM_000400.4(ERCC2):c.2190+11C>T2068ERCC2Conflicting interpretations of pathogenicityrs374737560RCV001135984|RCV002070582; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585545645855456GA19:g.45855456G>A-
NM_000400.4(ERCC2):c.2176C>T (p.Gln726Ter)2068ERCC2Pathogenicrs121913017RCV000018269; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585548145855481GA19:g.45855481G>AClinGen:CA257623,OMIM:126340.0002C0268138 278730 Xeroderma pigmentosum, group D;
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)2068ERCC2Conflicting interpretations of pathogenicityrs144564120RCV000120774|RCV000255243|RCV000761018|RCV000990227|RCV000778547|RCV001329855; NMedGen:CN169374|MedGen:CN517202|MedGen:C2826055|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN239291|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194585550745855507GC19:g.45855507G>CClinGen:CA158773CN517202 not provided;
NM_000400.4(ERCC2):c.2142C>G (p.Val714=)2068ERCC2Conflicting interpretations of pathogenicityrs546902024RCV000300493|RCV002057517; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585551545855515GCNC_000019.9:g.45855515G>CClinGen:CA9512871C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.2133C>T (p.Asp711=)2068ERCC2Benignrs1052555RCV000249244|RCV000334441|RCV001514551|RCV001658170|RCV001658171; NMedGen:CN169374|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194585552445855524GA19:g.45855524G>AClinGen:CA9512874CN169374 not specified;
NM_000400.4(ERCC2):c.2128G>A (p.Val710Met)2068ERCC2Uncertain significancers141808167RCV000120776|RCV001135985|RCV001854615; NMedGen:CN169374|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585552945855529CT19:g.45855529C>TClinGen:CA158779CN169374 not specified;
NM_000400.4(ERCC2):c.2127C>T (p.Thr709=)2068ERCC2Conflicting interpretations of pathogenicityrs147128863RCV000390659|RCV000915697; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585553045855530GANC_000019.9:g.45855530G>AClinGen:CA9512876C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.2094G>A (p.Gln698=)2068ERCC2Uncertain significancers886054495RCV000313554; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585556345855563CTNC_000019.9:g.45855563C>TClinGen:CA10652071C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.2083C>T (p.Arg695Cys)2068ERCC2Uncertain significancers201392911RCV000120773|RCV000624067|RCV001129000|RCV001854614; NMedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585557445855574GA19:g.45855574G>AClinGen:CA158770C0950123 Inborn genetic diseases;
NM_000400.4(ERCC2):c.2080C>T (p.Pro694Ser)2068ERCC2Conflicting interpretations of pathogenicityrs764868582RCV000626684|RCV001764743; NHuman Phenotype Ontology:HP:0006926,Human Phenotype Ontology:HP:0007079,MedGen:C4024961|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585557745855577GANC_000019.9:g.45855577G>AClinGen:CA9512893C4024961 Metachromatic leukodystrophy variant;
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)2068ERCC2Pathogenicrs758439420RCV000248679|RCV000812198; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585560945855609CTNC_000019.9:g.45855609C>TClinGen:CA10587999,UniProtKB:P18074#VAR_008197C0268138 278730 Xeroderma pigmentosum, group D;
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)2068ERCC2Pathogenic/Likely pathogenicrs41556519RCV000018284|RCV000518900|RCV000623275|RCV000763053; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670; MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756; MONDO:MONDO:0010212,MedGen:C0268138,194585561045855610GA19:g.45855610G>AClinGen:CA257630,UniProtKB:P18074#VAR_008198,OMIM:126340.0015C0950123 Inborn genetic diseases;
NM_000400.4(ERCC2):c.2010C>T (p.Gly670=)2068ERCC2Likely pathogenic-1RCV001507019; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585580045855800GA45855800-
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs)2068ERCC2Pathogenicrs1971844960RCV001329854|RCV001859268; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585580345855804CCT45855803-
NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter)2068ERCC2Pathogenic-1RCV001761788|RCV001837550; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585582645855826GA45855826-
NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly)2068ERCC2Likely pathogenic-1RCV001799560; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730; MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194585583845855838GC45855838-
NM_000400.4(ERCC2):c.1962C>T (p.Phe654=)2068ERCC2Conflicting interpretations of pathogenicityrs762985501RCV000370543|RCV000931954; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585584845855848GANC_000019.9:g.45855848G>AClinGen:CA9512958C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=)2068ERCC2Conflicting interpretations of pathogenicityrs145835916RCV000861246|RCV000990228; NMedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585590545855905CT19:g.45855905C>TClinGen:CA9512977C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.1904C>T (p.Ala635Val)2068ERCC2Conflicting interpretations of pathogenicityrs34517175RCV000120772|RCV000860939|RCV001129001; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585590645855906GA19:g.45855906G>AClinGen:CA158767CN169374 not specified;
NM_000400.4(ERCC2):c.1891C>T (p.Arg631Cys)2068ERCC2Uncertain significancers144511865RCV001129002|RCV001856682; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585601545856015GA19:g.45856015G>A-
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His)2068ERCC2Uncertain significancers200665173RCV000120771|RCV000662070|RCV000662071|RCV000662069|RCV000764209|RCV001329853|RCV001854613; NMedGen:CN169374|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0008955,MedGen:C0220722,OMIM:214150|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730; MONDO:MONDO:00111194585601945856019CG19:g.45856019C>GClinGen:CA158764C0220722 214150 Cerebro-oculo-facio-skeletal syndrome;
NM_000400.4(ERCC2):c.1876G>A (p.Val626Ile)2068ERCC2Uncertain significance-1RCV001761789; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585603045856030CT45856030-
NM_000400.4(ERCC2):c.1867G>A (p.Val623Ile)2068ERCC2Uncertain significancers372960848RCV001129003|RCV001856683; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585603945856039CT19:g.45856039C>T-
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=)2068ERCC2Conflicting interpretations of pathogenicityrs16979773RCV000880351|RCV001129004; NMedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585604045856040GA19:g.45856040G>A-
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)2068ERCC2Pathogenicrs376556895RCV000312948|RCV000489442|RCV000763054|RCV001195426; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756; MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730; MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MONDO:MONDO:00196194585605945856059CGNC_000019.9:g.45856059C>GClinGen:CA9513025,UniProtKB:P18074#VAR_003626C1853102 610756 Cerebrooculofacioskeletal syndrome 2;
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp)2068ERCC2Pathogenicrs121913024RCV000018278|RCV000171547|RCV001582486; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756|MedGen:CN517202194585606045856060GA19:g.45856060G>AClinGen:CA126891,UniProtKB:P18074#VAR_008193,OMIM:126340.0010C0220722 214150 Cerebro-oculo-facio-skeletal syndrome;
NM_000400.4(ERCC2):c.1845G>A (p.Gly615=)2068ERCC2Likely benignrs1599725250RCV000990229|RCV002067586; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585606145856061CT19:g.45856061C>T-
NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala)2068ERCC2Uncertain significancers759116129RCV001131685|RCV001292642; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194585607445856074AG19:g.45856074A>G-
NM_000400.4(ERCC2):c.1832-6C>T2068ERCC2Benign/Likely benignrs1799789RCV000965452|RCV001131686; NMedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585608045856080GA19:g.45856080G>A-
NM_000400.4(ERCC2):c.1815C>T (p.Ser605=)2068ERCC2Conflicting interpretations of pathogenicityrs368708674RCV001131687|RCV002070536; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585635745856357GA19:g.45856357G>A-
NM_000400.4(ERCC2):c.1802G>A (p.Arg601Gln)2068ERCC2Uncertain significancers140522180RCV000120769|RCV001131688|RCV001579661; NMedGen:CN169374|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585637045856370CT19:g.45856370C>TClinGen:CA158758CN169374 not specified;
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp)2068ERCC2Conflicting interpretations of pathogenicityrs753641926RCV001131689|RCV001267911; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585637145856371GA19:g.45856371G>A-
NM_000400.4(ERCC2):c.1789C>T (p.Leu597=)2068ERCC2Conflicting interpretations of pathogenicityrs138038607RCV000914167|RCV001131690; NMedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585638345856383GA19:g.45856383G>A-
NM_000400.4(ERCC2):c.1774C>T (p.Arg592Cys)2068ERCC2Uncertain significancers190678702RCV001131691; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585639845856398GA19:g.45856398G>A-
NM_000400.4(ERCC2):c.1759-2A>G2068ERCC2Pathogenic-1RCV001761790; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585641545856415TC45856415-
NM_000400.4(ERCC2):c.1758+32C>G2068ERCC2Benignrs238417RCV000253904|RCV001658167|RCV001658169|RCV001682974|RCV001658168; NMedGen:CN169374|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MedGen:CN517202|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756194585646845856468GC19:g.45856468G>CClinGen:CA9513108CN169374 not specified;
NM_000400.4(ERCC2):c.1737C>T (p.Val579=)2068ERCC2Benign/Likely benignrs3916876RCV000249557|RCV001131692|RCV000971966; NMedGen:CN169374|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585652145856521GA19:g.45856521G>AClinGen:CA9513129CN169374 not specified;
NM_000400.4(ERCC2):c.1725C>T (p.Ala575=)2068ERCC2Conflicting interpretations of pathogenicityrs116544270RCV001132703|RCV001510707; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585653345856533GA19:g.45856533G>A-
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)2068ERCC2Pathogenic/Likely pathogenicrs587778271RCV000120767|RCV000626683|RCV000778548|RCV001008079; NMedGen:CN169374|Human Phenotype Ontology:HP:0006926,Human Phenotype Ontology:HP:0007079,MedGen:C4024961|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585655445856555TAAT19:g.45856554_45856555delClinGen:CA158754C4024961 Metachromatic leukodystrophy variant;
NM_000400.4(ERCC2):c.1665+17C>A2068ERCC2Uncertain significance-1RCV001761791; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585797145857971GT45857971-
NM_000400.4(ERCC2):c.1649C>T (p.Ala550Val)2068ERCC2Uncertain significancers886054496RCV000365133; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585800445858004GANC_000019.9:g.45858004G>AClinGen:CA10652529C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.1644C>T (p.Thr548=)2068ERCC2Conflicting interpretations of pathogenicityrs375824454RCV000272985|RCV002057518; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585800945858009GA19:g.45858009G>AClinGen:CA9513175C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.1621A>C (p.Ser541Arg)2068ERCC2Pathogenicrs121913019RCV000018272; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585803245858032TG19:g.45858032T>GClinGen:CA257626,UniProtKB:P18074#VAR_003625,OMIM:126340.0005C0268138 278730 Xeroderma pigmentosum, group D;
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met)2068ERCC2Uncertain significancers142568756RCV001132704|RCV001360953; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194585804745858047CT19:g.45858047C>T-
NM_000400.4(ERCC2):c.1454T>C (p.Leu485Pro)2068ERCC2Pathogenicrs121913025RCV000018282; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586055345860553AG19:g.45860553A>GClinGen:CA257628,UniProtKB:P18074#VAR_017283,OMIM:126340.0013C0268138 278730 Xeroderma pigmentosum, group D;
NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile)2068ERCC2Conflicting interpretations of pathogenicityrs531021258RCV000978494|RCV001132705; NMedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586058145860581CT19:g.45860581C>T-
NM_000400.4(ERCC2):c.1404C>T (p.Pro468=)2068ERCC2Uncertain significancers886054497RCV000363853; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586060345860603GANC_000019.9:g.45860603G>AClinGen:CA10652530C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)2068ERCC2Conflicting interpretations of pathogenicityrs121913016RCV000018267|RCV000120764|RCV000171546|RCV000897210; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN169374|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MedGen:CN517202194586062645860626GC19:g.45860626G>CClinGen:CA158746,UniProtKB:P18074#VAR_003623,OMIM:126340.0001CN169374 not specified;
NM_000400.4(ERCC2):c.1377+8C>T2068ERCC2Conflicting interpretations of pathogenicityrs370862494RCV000880158|RCV001132706; NMedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586072445860724GA19:g.45860724G>A-
NM_000400.4(ERCC2):c.1363A>G (p.Ile455Val)2068ERCC2Uncertain significancers754585006RCV000266977|RCV001850764; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194586074645860746TCNC_000019.9:g.45860746T>CClinGen:CA9513338C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.1349G>A (p.Arg450His)2068ERCC2Uncertain significancers146632315RCV001136104|RCV001307243; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194586076045860760CT19:g.45860760C>T-
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile)2068ERCC2Conflicting interpretations of pathogenicityrs141457460RCV001136105|RCV001294169; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194586077045860770CT19:g.45860770C>T-
NM_000400.4(ERCC2):c.1307+14C>G2068ERCC2Uncertain significancers368946956RCV001136106; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586087445860874GC19:g.45860874G>C-
NM_000400.4(ERCC2):c.1276C>T (p.Pro426Ser)2068ERCC2Uncertain significancers577723968RCV000324505; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586091945860919GANC_000019.9:g.45860919G>AClinGen:CA9513388C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.1267G>A (p.Asp423Asn)2068ERCC2Uncertain significancers143710107RCV001323801|RCV001760410; NMedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586092845860928CT45860928-
NM_000400.4(ERCC2):c.1237+20T>A2068ERCC2Conflicting interpretations of pathogenicity-1RCV001392103|RCV001762665; NMedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586476245864762AT45864762-
NM_000400.4(ERCC2):c.1237+5G>A2068ERCC2Uncertain significancers761017664RCV000377066; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586477745864777CTNC_000019.9:g.45864777C>TClinGen:CA10652533C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.1118+4C>G2068ERCC2Uncertain significancers762719901RCV000284872|RCV001320125; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194586699745866997GCNC_000019.9:g.45866997G>CClinGen:CA9513542C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.1105C>T (p.Arg369Cys)2068ERCC2Uncertain significance-1RCV001761794|RCV001868787; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194586701445867014GA45867014-
NM_000400.4(ERCC2):c.1027C>T (p.Arg343Trp)2068ERCC2Uncertain significance-1RCV001761795; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586709245867092GA45867092-
NM_000400.4(ERCC2):c.1007dup (p.Leu337fs)2068ERCC2Pathogenic-1RCV001761796; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586711145867112CCA45867111-
NM_000400.4(ERCC2):c.988C>T (p.Leu330=)2068ERCC2Conflicting interpretations of pathogenicityrs146022050RCV000318853|RCV000900496; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194586713145867131GANC_000019.9:g.45867131G>AClinGen:CA9513552C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.978C>G (p.Ala326=)2068ERCC2Uncertain significancers746258199RCV001136107; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586714145867141GC19:g.45867141G>C-
NM_000400.4(ERCC2):c.950-13C>A2068ERCC2Uncertain significancers886054498RCV000375762; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586718245867182GTNC_000019.9:g.45867182G>TClinGen:CA10652536C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.949+9C>T2068ERCC2Conflicting interpretations of pathogenicityrs529824119RCV000279128|RCV000915640; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194586723545867235GANC_000019.9:g.45867235G>AClinGen:CA9513571C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.949+3G>T2068ERCC2Uncertain significancers997825199RCV001331199; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586724145867241CA45867241-
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu)2068ERCC2Uncertain significancers757790912RCV000990230|RCV001850765; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194586724745867247GC19:g.45867247G>CClinGen:CA9513573C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn)2068ERCC2Benign/Likely benignrs1799793RCV000120789|RCV000990231|RCV001514552|RCV001657759|RCV001657760; NMedGen:CN169374|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670194586725945867259CT19:g.45867259C>TClinGen:CA158818,UniProtKB:P18074#VAR_011414CN169374 not specified;
NM_000400.4(ERCC2):c.930G>C (p.Leu310=)2068ERCC2Uncertain significancers1471014609RCV001129132; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586726345867263CG19:g.45867263C>G-
NM_000400.4(ERCC2):c.902C>A (p.Thr301Lys)2068ERCC2Uncertain significancers199863965RCV000296729; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586729145867291GTNC_000019.9:g.45867291G>TClinGen:CA9513584C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.902C>T (p.Thr301Met)2068ERCC2Uncertain significancers199863965RCV001129133; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586729145867291GA19:g.45867291G>A-
NM_000400.4(ERCC2):c.869A>T (p.Glu290Val)2068ERCC2Uncertain significance-1RCV001761778; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586732445867324TA45867324-
NM_000400.4(ERCC2):c.839G>A (p.Arg280His)2068ERCC2Uncertain significance-1RCV001761779|RCV001868785; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194586735445867354CT45867354-
NM_000400.4(ERCC2):c.832G>A (p.Glu278Lys)2068ERCC2Uncertain significance-1RCV001761780; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586736145867361CT45867361-
NM_000400.4(ERCC2):c.816-2A>G2068ERCC2Likely pathogenicrs746795177RCV000778549; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586737945867379TCNC_000019.9:g.45867379T>C-
NM_000400.4(ERCC2):c.749A>C (p.Asn250Thr)2068ERCC2Uncertain significancers753889198RCV000405983|RCV001850766; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194586755945867559TGNC_000019.9:g.45867559T>GClinGen:CA9513641C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.740T>C (p.Met247Thr)2068ERCC2Uncertain significancers372176415RCV000309817|RCV001859949; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194586756845867568AGNC_000019.9:g.45867568A>GClinGen:CA9513645C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.739A>G (p.Met247Val)2068ERCC2Uncertain significancers1972343102RCV001131816; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586756945867569TC19:g.45867569T>C-
NM_000400.4(ERCC2):c.718+6G>T2068ERCC2Benignrs3916812RCV000362236|RCV000991967|RCV001579492; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202|MedGen:CN169374194586767645867676CA19:g.45867676C>AClinGen:CA9513675C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.718+5G>T2068ERCC2Uncertain significance-1RCV001761781; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586767745867677CA45867677-
NM_000400.4(ERCC2):c.691G>A (p.Val231Met)2068ERCC2Uncertain significancers200895828RCV000405095|RCV001859950; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194586770945867709CTNC_000019.9:g.45867709C>TClinGen:CA9513681C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.607A>G (p.Asn203Asp)2068ERCC2Uncertain significancers1972354891RCV001131817; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586779345867793TC19:g.45867793T>C-
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr)2068ERCC2Conflicting interpretations of pathogenicityrs1799792RCV000658844|RCV001131818; NMedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586779945867799GA19:g.45867799G>A-CN517202 not provided;
NM_000400.4(ERCC2):c.594+2_594+5del2068ERCC2Pathogenic/Likely pathogenicrs762309206RCV000454337|RCV000454224|RCV000599593; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194586809145868094CCTCAC19:g.45868091_45868094delClinGen:CA9513732CN517202 not provided;
NM_000400.4(ERCC2):c.572C>T (p.Pro191Leu)2068ERCC2Uncertain significancers886054499RCV000303671; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586811845868118GANC_000019.9:g.45868118G>AClinGen:CA10652074C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.552G>C (p.Gly184=)2068ERCC2Conflicting interpretations of pathogenicityrs769750286RCV000927354|RCV001131819; NMedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586813845868138CG19:g.45868138C>G-
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val)2068ERCC2Conflicting interpretations of pathogenicityrs142936491RCV000120786|RCV000358437|RCV000896557|RCV001843479; NMedGen:CN169374|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202|Human Phenotype Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624, Orphanet:449194586814545868145GA19:g.45868145G>AClinGen:CA158809CN169374 not specified;
NM_000400.4(ERCC2):c.527A>G (p.Asn176Ser)2068ERCC2Uncertain significancers146137795RCV001132797; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586816345868163TC19:g.45868163T>C-
NM_000400.4(ERCC2):c.477+9A>C2068ERCC2Benignrs1799785RCV000268370|RCV000245437|RCV000991965; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN169374|MedGen:CN517202194586829145868291TG19:g.45868291T>GClinGen:CA9513778CN169374 not specified;
NM_000400.4(ERCC2):c.468A>C (p.Arg156=)2068ERCC2Benignrs238406RCV000242247|RCV000323397|RCV001658176|RCV001514553|RCV001658175; NMedGen:CN169374|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MedGen:CN517202|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756194586830945868309TG19:g.45868309T>GClinGen:CA9513781CN169374 not specified;
NM_000400.4(ERCC2):c.452_461del (p.Ser151fs)2068ERCC2Uncertain significancers1568543189RCV000778550; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586831645868325GTGGGGCAGGCGNC_000019.9:g.45868319_45868328del-
NM_000400.4(ERCC2):c.428G>A (p.Arg143Gln)2068ERCC2Uncertain significance-1RCV001761784; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586834945868349CT45868349-
NM_000400.4(ERCC2):c.387C>T (p.Asp129=)2068ERCC2Benign/Likely benignrs199993007RCV000939207|RCV001132798; NMedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586839045868390GA19:g.45868390G>A-
NM_000400.4(ERCC2):c.365C>T (p.Thr122Ile)2068ERCC2Uncertain significance-1RCV001761785; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194586841245868412GA45868412-
NM_000400.4(ERCC2):c.348T>C (p.Cys116=)2068ERCC2Conflicting interpretations of pathogenicityrs769231981RCV001132799|RCV002070548; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194587190045871900AG19:g.45871900A>G-
NM_000400.4(ERCC2):c.335G>A (p.Arg112His)2068ERCC2Pathogenicrs121913020RCV000018273|RCV000018274|RCV000424822; NMONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194587191345871913CT19:g.45871913C>TClinGen:CA126883,UniProtKB:P18074#VAR_003622,OMIM:126340.0006CN517202 not provided;
NM_000400.4(ERCC2):c.308C>T (p.Pro103Leu)2068ERCC2Uncertain significancers142462393RCV000354908; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194587194045871940GANC_000019.9:g.45871940G>AClinGen:CA9513832C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.298G>T (p.Glu100Ter)2068ERCC2Pathogenicrs964247601RCV000770817; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194587195045871950CANC_000019.9:g.45871950C>A-
NM_000400.4(ERCC2):c.247-35G>A2068ERCC2Benignrs1799783RCV000250105|RCV001618382|RCV001658172|RCV001658174|RCV001658173; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756194587203645872036CT19:g.45872036C>TClinGen:CA9513854CN169374 not specified;
NM_000400.4(ERCC2):c.229G>A (p.Val77Met)2068ERCC2Uncertain significancers866646197RCV001136192; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194587220545872205CT19:g.45872205C>T-
NM_000400.4(ERCC2):c.184-1G>T2068ERCC2Pathogenicrs1568546120RCV000770816; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194587225145872251CANC_000019.9:g.45872251C>A-
NM_000400.4(ERCC2):c.184-5G>C2068ERCC2Uncertain significancers560956342RCV001136193; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194587225545872255CG19:g.45872255C>G-
NM_000400.4(ERCC2):c.183+2T>A2068ERCC2Conflicting interpretations of pathogenicityrs201127596RCV000260066|RCV001859951; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194587232645872326ATNC_000019.9:g.45872326A>TClinGen:CA9513899C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.156G>A (p.Leu52=)2068ERCC2Conflicting interpretations of pathogenicityrs202156896RCV000931392|RCV001136194; NMedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194587235545872355CT19:g.45872355C>T-
NM_000400.4(ERCC2):c.147A>G (p.Thr49=)2068ERCC2Uncertain significancers147826890RCV000319886; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194587236445872364TCNC_000019.9:g.45872364T>CClinGen:CA10652075C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.121G>T (p.Glu41Ter)2068ERCC2Pathogenicrs1568546252RCV000770818; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194587239045872390CANC_000019.9:g.45872390C>A-
NM_000400.4(ERCC2):c.112G>A (p.Gly38Arg)2068ERCC2Uncertain significance-1RCV001761793; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194587239945872399CT45872399-
NM_000400.4(ERCC2):c.92C>T (p.Thr31Met)2068ERCC2Uncertain significance-1RCV001761776; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194587340445873404GA45873404-
NM_000400.4(ERCC2):c.57C>T (p.Pro19=)2068ERCC2Conflicting interpretations of pathogenicityrs369106754RCV001136195|RCV002070584; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194587343945873439GA19:g.45873439G>A-
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys)2068ERCC2Conflicting interpretations of pathogenicityrs147972150RCV000120770|RCV000893772|RCV001292799|RCV001136196|RCV001329858; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011125,MedGen:C1866504,OMIM:601675, Orphanet:33364, Orphanet:670|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MONDO:MONDO:0012553,MedGen:C1853102,OMIM:610756194587344945873449TC19:g.45873449T>CClinGen:CA158761CN169374 not specified;
NM_000400.4(ERCC2):c.32A>G (p.Tyr11Cys)2068ERCC2Uncertain significancers748033766RCV001136197|RCV001856738; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194587346445873464TC19:g.45873464T>C-
NM_000400.4(ERCC2):c.6G>C (p.Lys2Asn)2068ERCC2Uncertain significancers200443634RCV000991966|RCV001136198; NMedGen:CN517202|MONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194587349045873490CG19:g.45873490C>G-
NM_000400.4(ERCC2):c.5+39C>G2068ERCC2Uncertain significance-1RCV001761783; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194587375545873755GC45873755-
NM_000400.4(ERCC2):c.5+6A>C2068ERCC2Uncertain significancers751637822RCV000293941; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194587378845873788TGNC_000019.9:g.45873788T>GClinGen:CA9513992C0043346 Xeroderma pigmentosum;
NM_000400.4(ERCC2):c.5+6A>G2068ERCC2Uncertain significance-1RCV001761782|RCV001868786; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730|MedGen:CN517202194587378845873788TC45873788-
NM_000400.4(ERCC2):c.-12C>G2068ERCC2Uncertain significance-1RCV001761797; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194587381045873810GC45873810-
NM_177417.3(KLC3):c.1486G>A (p.Ala496Thr)147700KLC3Uncertain significance-1RCV001771766; NMONDO:MONDO:0010212,MedGen:C0268138,OMIM:278730194585458645854586GA45854586-
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