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:12929
Name:Xeroderma pigmentosum, variant type
Definition:
Alternative IDs:OMIM:278750
ParentIDs:MESH:D014983
TreeNumbers:C04.834.867/C536766 |C16.131.831.936/C536766 |C16.320.850.970/C536766 |C17.800.600.925/C536766 |C17.800.621.936/C536766 |C17.800.804.936/C536766 |C17.800.827.970/C536766 |C18.452.284.975/C536766
Synonyms:Photosensitivity with defective DNA synthesis |Xeroderma pigmentosum with normal DNA repair rates |XPV
Slim Mappings:Cancer|Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Skin disease
Reference: MedGen: C536766
MeSH: C536766
OMIM: 278750;
MSeqDR LSDB:  
Genes: POLH;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002671Basal cell carcinoma
3 HP:0000509Conjunctivitis
4 HP:0012056Cutaneous melanoma
5 HP:0000992Cutaneous photosensitivity
6 HP:0004334Dermal atrophy
7 HP:0000656Ectropion
8 HP:0000621Entropion
9 HP:0000491Keratitis
10 HP:0000613Photophobia
11 HP:0001029Poikiloderma
12 HP:0002860Squamous cell carcinoma
13 HP:0001009Telangiectasia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001318876.2(POLR1C):c.945+46886C>T5429POLHUncertain significancers886061429RCV000266411; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264354389443543894CT6:g.43543894C>TClinGen:CA10626931C0043346 Xeroderma pigmentosum;
NM_001318876.2(POLR1C):c.945+46889C>A5429POLHUncertain significancers886061430RCV000316874; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264354389743543897CA6:g.43543897C>AClinGen:CA10623993
NM_001318876.2(POLR1C):c.945+46892A>G5429POLHUncertain significancers779473846RCV000371621; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264354390043543900AG6:g.43543900A>GClinGen:CA10626784
NM_001318876.2(POLR1C):c.945+46900C>A5429POLHUncertain significancers185054720RCV000281784; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264354390843543908CA6:g.43543908C>AClinGen:CA10626932
NM_006502.3(POLH):c.-252G>C5429POLHUncertain significancers1419194904RCV001160706; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264354393043543930GC6:g.43543930G>C-
NM_006502.3(POLH):c.-242C>G5429POLHUncertain significancers56210561RCV000336847; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264354394043543940CG6:g.43543940C>GClinGen:CA10623994
NM_006502.3(POLH):c.-239G>T5429POLHUncertain significancers867581716RCV000386709; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264354394343543943GT6:g.43543943G>TClinGen:CA10626939
NM_006502.3(POLH):c.-232C>A5429POLHUncertain significancers542595870RCV000293002; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264354395043543950CA6:g.43543950C>AClinGen:CA10622147
NM_006502.3(POLH):c.-219T>A5429POLHUncertain significancers750754629RCV000352515; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264354396343543963TA6:g.43543963T>AClinGen:CA10626940
NM_006502.3(POLH):c.-216C>T5429POLHUncertain significancers886061431RCV000400586; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264354396643543966CT6:g.43543966C>TClinGen:CA10623997
NM_006502.3(POLH):c.-195G>A5429POLHUncertain significancers780824153RCV000308184; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264354398743543987GA6:g.43543987G>AClinGen:CA10626785
NM_006502.3(POLH):c.-117C>T5429POLHBenignrs56300149RCV000344239; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264354406543544065CT6:g.43544065C>TClinGen:CA10622148
NM_006502.3(POLH):c.-98A>C5429POLHBenignrs189835199RCV000392821; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264354408443544084AC6:g.43544084A>CClinGen:CA10626941
NM_006502.3(POLH):c.-94A>G5429POLHUncertain significancers895727775RCV001162325; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264354408843544088AG6:g.43544088A>G-
NM_006502.3(POLH):c.-62C>T5429POLHUncertain significancers537011297RCV000359319; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264354412043544120CT6:g.43544120C>TClinGen:CA10626787
NM_006502.3(POLH):c.-5+3A>G5429POLHUncertain significancers9357415RCV000267901|RCV000998608; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:90342|MedGen:CN51720264354418043544180AG6:g.43544180A>GClinGen:CA10622149C0043346 Xeroderma pigmentosum;
NM_006502.3(POLH):c.-4-1G>C5429POLHUncertain significancers1461960812RCV000778795; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355005243550052GC6:g.43550052G>C-
NM_006502.3(POLH):c.7A>G (p.Thr3Ala)5429POLHUncertain significancers1368911954RCV001162326; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355006343550063AG6:g.43550063A>G-
NM_006502.3(POLH):c.25G>T (p.Val9Phe)5429POLHUncertain significancers781288440RCV001162327; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355008143550081GT6:g.43550081G>T-
NM_006502.3(POLH):c.34G>C (p.Val12Leu)5429POLHUncertain significancers552779831RCV001162328; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355009043550090GC6:g.43550090G>C-
NM_006502.3(POLH):c.149dup (p.Ser51fs)5429POLHLikely pathogenicrs752080248RCV000778796; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355075443550755GGT6:g.43550754_43550755insT-
NM_006502.3(POLH):c.189G>C (p.Met63Ile)5429POLHUncertain significancers946206811RCV001164353; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355079543550795GC6:g.43550795G>C-
NM_006502.3(POLH):c.207del (p.Lys70fs)5429POLHPathogenicrs1176350430RCV000006250; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355081343550813AGA6:g.43550813_43550813delOMIM:603968.0010C1848410 278750 Xeroderma pigmentosum, variant type;
NM_006502.3(POLH):c.222TCT[1] (p.Leu77del)5429POLHPathogenicrs1426687865RCV000006251; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355082843550830ATCTA6:g.43550828_43550830delOMIM:603968.0011C1848410 278750 Xeroderma pigmentosum, variant type;
NM_006502.3(POLH):c.229C>T (p.Leu77=)5429POLHUncertain significancers199840329RCV001164354; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355083543550835CT6:g.43550835C>T-
NM_006502.3(POLH):c.232G>A (p.Ala78Thr)5429POLHUncertain significancers372613817RCV000304368; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355083843550838GA6:g.43550838G>AClinGen:CA3826910
NM_006502.3(POLH):c.248C>T (p.Ser83Phe)5429POLHUncertain significancers774770256RCV001164355; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355085443550854CT6:g.43550854C>T-
NM_006502.3(POLH):c.251G>A (p.Arg84His)5429POLHUncertain significancers565487114RCV001164356; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355085743550857GA6:g.43550857G>A-
NM_006502.3(POLH):c.272+4A>G5429POLHUncertain significancers373430329RCV001164357; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355088243550882AG6:g.43550882A>G-
NM_006502.3(POLH):c.341T>C (p.Ile114Thr)5429POLHUncertain significancers1437060722RCV001164358; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355507743555077TC6:g.43555077T>C-
NM_006502.3(POLH):c.376C>T (p.Gln126Ter)5429POLHPathogenicrs121908563RCV000006247; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355511243555112CT6:g.43555112C>TClinGen:CA253641,OMIM:603968.0006C1848410 278750 Xeroderma pigmentosum, variant type;
NM_006502.3(POLH):c.396A>G (p.Leu132=)5429POLHUncertain significancers1449546916RCV001164359; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355513243555132AG6:g.43555132A>G-
NM_006502.3(POLH):c.409A>G (p.Ile137Val)5429POLHUncertain significancers767257383RCV001159431; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355514543555145AG6:g.43555145A>G-
NM_006502.3(POLH):c.458G>A (p.Gly153Asp)5429POLHUncertain significancers367709714RCV001159432; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355519443555194GA6:g.43555194G>A-
NM_006502.3(POLH):c.490G>T (p.Glu164Ter)5429POLHPathogenic/Likely pathogenicrs767433001RCV000251879|RCV001195542; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:90342|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:91064355522643555226GT6:g.43555226G>TClinGen:CA3826982C1848410 278750 Xeroderma pigmentosum, variant type;
NM_006502.3(POLH):c.490+1del5429POLHUncertain significancers1561900325RCV000680214; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264355522643555226AGA6:g.43555226_43555226del-C1848410 278750 Xeroderma pigmentosum, variant type;
NM_006502.3(POLH):c.491-4T>G5429POLHUncertain significancers185508862RCV000354571|RCV000998609; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:90342|MedGen:CN51720264356542943565429TG6:g.43565429T>GClinGen:CA3826998C0043346 Xeroderma pigmentosum;
NM_006502.3(POLH):c.525C>T (p.Leu175=)5429POLHUncertain significancers150901869RCV001159433; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264356546743565467CT6:g.43565467C>T-
NM_006502.3(POLH):c.626G>T (p.Gly209Val)5429POLHBenign/Likely benignrs2307456RCV000241818|RCV000615798|RCV000953963|RCV001269501; NMedGen:CN169374|MONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:90342|MedGen:CN517202|MONDO:MONDO:0007254,MedGen:C000614264356556843565568GT6:g.43565568G>TClinGen:CA3827028,UniProtKB:Q9Y253#VAR_021229CN169374 not specified;
NM_006502.3(POLH):c.660+10A>C5429POLHBenignrs56056074RCV000259489; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264356561243565612AC6:g.43565612A>CClinGen:CA3827037C0043346 Xeroderma pigmentosum;
NM_006502.3(POLH):c.672_673insT (p.Leu225fs)5429POLHPathogenic-1RCV001779220; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264356873643568737AAT43568736-
NM_006502.3(POLH):c.698A>G (p.Asn233Ser)5429POLHLikely benignrs61756403RCV000319612|RCV000959617; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:90342|MedGen:CN51720264356876243568762AG6:g.43568762A>GClinGen:CA3827058C0043346 Xeroderma pigmentosum;
NM_006502.3(POLH):c.709C>G (p.Leu237Val)5429POLHUncertain significancers1766680050RCV001159434; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264356877343568773CG6:g.43568773C>G-
NM_006502.3(POLH):c.725C>G (p.Ser242Ter)5429POLHPathogenicrs745778317RCV000243669; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264356878943568789CG6:g.43568789C>GClinGen:CA3827063C1848410 278750 Xeroderma pigmentosum, variant type;
NM_006502.3(POLH):c.738C>T (p.Leu246=)5429POLHUncertain significancers145530456RCV000355710; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264356880243568802CT6:g.43568802C>TClinGen:CA3827066C0043346 Xeroderma pigmentosum;
NM_006502.3(POLH):c.764+1G>A5429POLHPathogenicrs772570523RCV000208975; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264356882943568829GA6:g.43568829G>AClinGen:CA204515
NM_006502.3(POLH):c.791C>T (p.Ala264Val)5429POLHUncertain significancers1397704950RCV001160806; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264357165543571655CT6:g.43571655C>T-
NM_006502.3(POLH):c.815T>C (p.Ile272Thr)5429POLHUncertain significancers147712217RCV001160807; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264357167943571679TC6:g.43571679T>C-
NM_006502.3(POLH):c.887C>T (p.Ser296Phe)5429POLHUncertain significancers200149644RCV000274934; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264357235443572354CT6:g.43572354C>TClinGen:CA3827117C0043346 Xeroderma pigmentosum;
NM_006502.3(POLH):c.907C>T (p.Arg303Ter)5429POLHPathogenicrs759607901RCV000209179; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264357237443572374CT6:g.43572374C>TClinGen:CA205006
NM_006502.3(POLH):c.916G>T (p.Glu306Ter)5429POLHPathogenicrs121908562RCV000006245; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264357238343572383GT6:g.43572383G>TClinGen:CA253638,OMIM:603968.0004C1848410 278750 Xeroderma pigmentosum, variant type;
NM_006502.3(POLH):c.986C>T (p.Thr329Ile)5429POLHBenign/Likely benignrs35675573RCV000330096|RCV000880605; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:90342|MedGen:CN51720264357245343572453CT6:g.43572453C>TClinGen:CA3827133
NM_006502.3(POLH):c.1000C>T (p.Arg334Trp)5429POLHUncertain significancers9333548RCV001160808; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264357246743572467CT6:g.43572467C>T-
NM_006502.2(POLH):c.1075-?_1244+?del5429POLHPathogenic-1RCV000248099; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264357305643581397nanaClinGen:CA645293869
NM_006502.3(POLH):c.1074T>G (p.Asp358Glu)5429POLHUncertain significancers886061433RCV000388890; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264357305643573056TG6:g.43573056T>GClinGen:CA10622152
NM_006502.3(POLH):c.1074+7T>G5429POLHUncertain significancers765856970RCV000294499; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264357306343573063TG6:g.43573063T>GClinGen:CA3827170
NM_006502.3(POLH):c.1117C>T (p.Gln373Ter)5429POLHPathogenicrs121908564RCV000006248; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264357833343578333CT6:g.43578333C>TClinGen:CA253644,OMIM:603968.0007C1848410 278750 Xeroderma pigmentosum, variant type;
NM_006502.3(POLH):c.1163C>A (p.Thr388Asn)5429POLHUncertain significancers370443606RCV001162421; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264357837943578379CA6:g.43578379C>A-
NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del)5429POLHUncertain significancers747834463RCV000326191|RCV000625435; NMONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358139943581401TCTCT6:g.43581399_43581401delClinGen:CA3827219
NM_006502.3(POLH):c.1288T>C (p.Ser430Pro)5429POLHUncertain significancers886061435RCV000291119; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358144043581440TC6:g.43581440T>CClinGen:CA10622155
NM_006502.3(POLH):c.1299C>A (p.Ala433=)5429POLHUncertain significancers140331414RCV001162422; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358145143581451CA6:g.43581451C>A-
NM_006502.3(POLH):c.1406C>T (p.Ala469Val)5429POLHUncertain significancers200438344RCV001162423; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358155843581558CT6:g.43581558C>T-
NM_006502.3(POLH):c.1433C>T (p.Thr478Met)5429POLHBenignrs9296419RCV000890100|RCV001162424; NMedGen:CN517202|MONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358158543581585CT6:g.43581585C>T-
NM_006502.3(POLH):c.1434G>A (p.Thr478=)5429POLHBenignrs3734690RCV000242577|RCV000346093|RCV001683057; NMedGen:CN169374|MONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:90342|MedGen:CN51720264358158643581586GA6:g.43581586G>AClinGen:CA3827252CN169374 not specified;
NM_006502.3(POLH):c.1473G>A (p.Gln491=)5429POLHConflicting interpretations of pathogenicityrs142864589RCV000925879|RCV001162425; NMedGen:CN517202|MONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358162543581625GA6:g.43581625G>A-
NM_006502.3(POLH):c.1483G>A (p.Glu495Lys)5429POLHUncertain significancers759840056RCV000398974; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358163543581635GA6:g.43581635G>AClinGen:CA3827255
NM_006502.3(POLH):c.1568G>T (p.Ser523Ile)5429POLHUncertain significancers1273407528RCV001164465; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358172043581720GT6:g.43581720G>T-
NM_006502.3(POLH):c.1572A>C (p.Gln524His)5429POLHLikely benignrs138752565RCV001164466|RCV001549429; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:90342|MedGen:CN51720264358172443581724AC6:g.43581724A>C-
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu)5429POLHConflicting interpretations of pathogenicityrs56307355RCV000006252|RCV000899778; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:90342|MedGen:CN51720264358175543581755AG6:g.43581755A>GClinGen:CA253647,UniProtKB:Q9Y253#VAR_021234,OMIM:603968.0012C1848410 278750 Xeroderma pigmentosum, variant type;
NM_006502.3(POLH):c.1637A>G (p.Asn546Ser)5429POLHUncertain significancers886061436RCV000283033; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358178943581789AG6:g.43581789A>GClinGen:CA10626792
NM_006502.3(POLH):c.1664del (p.Asn555fs)5429POLHPathogenicrs886039225RCV000244978; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358181343581813CAC6:g.43581813_43581813delClinGen:CA10587997C1848410 278750 Xeroderma pigmentosum, variant type;
NM_006502.3(POLH):c.1721G>A (p.Cys574Tyr)5429POLHUncertain significancers761982554RCV000343274; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358187343581873GA6:g.43581873G>AClinGen:CA3827297
NM_006502.3(POLH):c.1751T>C (p.Leu584Pro)5429POLHBenignrs9333554RCV000970140|RCV001164467; NMedGen:CN517202|MONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358190343581903TC6:g.43581903T>C-
NM_006502.3(POLH):c.1766A>C (p.Lys589Thr)5429POLHUncertain significancers121908565RCV000006253; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358191843581918AC6:g.43581918A>CClinGen:CA253649,UniProtKB:Q9Y253#VAR_021236,OMIM:603968.0013C1848410 278750 Xeroderma pigmentosum, variant type;
NM_006502.3(POLH):c.1783A>G (p.Met595Val)5429POLHBenign/Likely benignrs9333555RCV000247560|RCV000677310|RCV001668521; NMedGen:CN169374|MONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:90342|MedGen:CN51720264358193543581935AG6:g.43581935A>GClinGen:CA3827306,UniProtKB:Q9Y253#VAR_021237CN169374 not specified;
NM_006502.3(POLH):c.1896A>G (p.Gln632=)5429POLHLikely benignrs139476900RCV000353662; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358204843582048AG6:g.43582048A>GClinGen:CA3827327
NM_006502.3(POLH):c.1939A>T (p.Met647Leu)5429POLHBenignrs6941583RCV000251713|RCV000408337|RCV001660298; NMedGen:CN169374|MONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:90342|MedGen:CN51720264358209143582091AT6:g.43582091A>TClinGen:CA3827335,UniProtKB:Q9Y253#VAR_021238CN169374 not specified;
NM_006502.3(POLH):c.1953G>A (p.Met651Ile)5429POLHUncertain significancers1768184352RCV001159536; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358210543582105GA6:g.43582105G>A-
NM_006502.3(POLH):c.2024C>A (p.Ser675Tyr)5429POLHConflicting interpretations of pathogenicityrs151095678RCV000299804|RCV000911755; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:90342|MedGen:CN51720264358217643582176CA6:g.43582176C>AClinGen:CA3827348
NM_006502.3(POLH):c.2028C>T (p.Ala676=)5429POLHLikely benignrs140971385RCV000368635|RCV001550335; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:90342|MedGen:CN51720264358218043582180CT6:g.43582180C>TClinGen:CA3827349
NM_006502.3(POLH):c.2031A>T (p.Val677=)5429POLHConflicting interpretations of pathogenicityrs746206386RCV001159537|RCV001594410; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:90342|MedGen:CN51720264358218343582183AT6:g.43582183A>T-
NM_006502.3(POLH):c.2091G>A (p.Arg697=)5429POLHUncertain significancers1768196597RCV001159538; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358224343582243GA6:g.43582243G>A-
NM_006502.3(POLH):c.*2G>T5429POLHUncertain significancers767194898RCV001159539; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358229643582296GT6:g.43582296G>T-
NM_006502.3(POLH):c.*31A>G5429POLHUncertain significancers201946729RCV001160915; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358232543582325AG6:g.43582325A>G-
NM_006502.3(POLH):c.*50A>G5429POLHBenignrs1064260RCV000274029|RCV001613186; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:90342|MedGen:CN51720264358234443582344AG6:g.43582344A>GClinGen:CA3827374
NM_006502.3(POLH):c.*181C>T5429POLHUncertain significancers548852305RCV001160916; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358247543582475CT6:g.43582475C>T-
NM_006502.3(POLH):c.*281T>G5429POLHUncertain significancers559642468RCV001160917; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358257543582575TG6:g.43582575T>G-
NM_006502.3(POLH):c.*290C>T5429POLHBenignrs6899628RCV000334151|RCV001636984; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:90342|MedGen:CN51720264358258443582584CT6:g.43582584C>TClinGen:CA10622157
NM_006502.3(POLH):c.*371A>G5429POLHBenignrs59061501RCV000370169; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358266543582665AG6:g.43582665A>GClinGen:CA10624000
NM_006502.3(POLH):c.*408T>A5429POLHUncertain significancers995782976RCV001160918; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358270243582702TA6:g.43582702T>A-
NM_006502.3(POLH):c.*429G>A5429POLHBenignrs9333556RCV001160919; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358272343582723GA6:g.43582723G>A-
NM_006502.3(POLH):c.*537C>T5429POLHBenignrs55704248RCV000270765; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358283143582831CT6:g.43582831C>TClinGen:CA10626946
NM_006502.3(POLH):c.*546T>G5429POLHLikely benignrs150227941RCV001162528; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358284043582840TG6:g.43582840T>G-
NM_006502.3(POLH):c.*599T>C5429POLHUncertain significancers185601425RCV001162529; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358289343582893TC6:g.43582893T>C-
NM_006502.3(POLH):c.*639G>A5429POLHLikely benignrs9333557RCV000325782; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358293343582933GA6:g.43582933G>AClinGen:CA10624001
NM_006502.3(POLH):c.*671C>T5429POLHUncertain significancers886061438RCV000385280; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358296543582965CT6:g.43582965C>TClinGen:CA10626947
NM_006502.3(POLH):c.*693C>T5429POLHBenignrs9333558RCV000290947; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358298743582987CT6:g.43582987C>TClinGen:CA10626793
NM_006502.3(POLH):c.*698C>T5429POLHUncertain significancers570835057RCV000322447; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358299243582992CT6:g.43582992C>TClinGen:CA10626798
NM_006502.3(POLH):c.*700T>C5429POLHUncertain significancers886061439RCV000377107; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358299443582994TC6:g.43582994T>CClinGen:CA10626802
NM_006502.3(POLH):c.*720T>C5429POLHUncertain significancers757405088RCV001164561; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358301443583014TC6:g.43583014T>C-
NM_006502.3(POLH):c.*865G>A5429POLHUncertain significancers886061440RCV000285154; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358315943583159GA6:g.43583159G>AClinGen:CA10622158
NM_006502.3(POLH):c.*871G>A5429POLHUncertain significancers886061441RCV000335462; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358316543583165GA6:g.43583165G>AClinGen:CA10624006
NM_006502.3(POLH):c.*884G>T5429POLHUncertain significancers1768261073RCV001164562; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358317843583178GT6:g.43583178G>T-
NM_006502.3(POLH):c.*952C>T5429POLHBenignrs1141338RCV000401669; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358324643583246CT6:g.43583246C>TClinGen:CA10626948
NM_006502.3(POLH):c.*954C>T5429POLHUncertain significancers886061442RCV000281708; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358324843583248CT6:g.43583248C>TClinGen:CA10624007
NM_006502.3(POLH):c.*985G>A5429POLHUncertain significancers886061443RCV000336773; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358327943583279GA6:g.43583279G>AClinGen:CA10622159
NM_006502.3(POLH):c.*998A>G5429POLHLikely benignrs550215250RCV000389985; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358329243583292AG6:g.43583292A>GClinGen:CA10622162
NM_006502.3(POLH):c.*1055A>T5429POLHBenignrs115129476RCV000313002; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358334943583349AT6:g.43583349A>TClinGen:CA10622163
NM_006502.3(POLH):c.*1091T>A5429POLHUncertain significancers886061444RCV000369970; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358338543583385TA6:g.43583385T>AClinGen:CA10624008C0043346 Xeroderma pigmentosum;
NM_006502.3(POLH):c.*1103A>G5429POLHUncertain significancers886061445RCV000392274; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358339743583397AG6:g.43583397A>GClinGen:CA10626951
NM_006502.3(POLH):c.*1110A>T5429POLHBenignrs112725367RCV000307090; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358340443583404AT6:g.43583404A>TClinGen:CA10622168
NM_006502.3(POLH):c.*1129A>T5429POLHBenignrs28877272RCV000363986; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358342343583423AT6:g.43583423A>TClinGen:CA10622169
NM_006502.3(POLH):c.*1139C>T5429POLHUncertain significancers886061446RCV000271815; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358343343583433CT6:g.43583433C>TClinGen:CA10624009
NM_006502.3(POLH):c.*1156G>A5429POLHLikely benignrs9333560RCV001159649; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358345043583450GA6:g.43583450G>A-
NM_006502.3(POLH):c.*1179G>A5429POLHBenignrs9333561RCV000310362; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358347343583473GA6:g.43583473G>AClinGen:CA10626953
NM_006502.3(POLH):c.*1201C>T5429POLHLikely benignrs9333562RCV000358094; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358349543583495CT6:g.43583495C>TClinGen:CA10624010
NM_006502.3(POLH):c.*1336G>A5429POLHLikely benignrs9333563RCV001161034; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358363043583630GA6:g.43583630G>A-
NM_006502.3(POLH):c.*1346C>T5429POLHUncertain significancers1768290948RCV001161035; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358364043583640CT6:g.43583640C>T-
NM_006502.3(POLH):c.*1364T>A5429POLHBenignrs9333565RCV000323247; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358365843583658TA6:g.43583658T>AClinGen:CA10626803
NM_006502.3(POLH):c.*1528G>A5429POLHUncertain significancers938339228RCV001161036; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358382243583822GA6:g.43583822G>A-
NM_006502.3(POLH):c.*1535C>T5429POLHUncertain significancers1363397499RCV001161037; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358382943583829CT6:g.43583829C>T-
NM_006502.3(POLH):c.*1547G>A5429POLHUncertain significancers894218562RCV001161038; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358384143583841GA6:g.43583841G>A-
NM_006502.3(POLH):c.*1549C>T5429POLHBenignrs186059509RCV000379942; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358384343583843CT6:g.43583843C>TClinGen:CA10622171
NM_006502.3(POLH):c.*1594G>T5429POLHUncertain significancers1004799524RCV001162615; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358388843583888GT6:g.43583888G>T-
NM_006502.3(POLH):c.*1615C>T5429POLHUncertain significancers536734238RCV000317138; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358390943583909CT6:g.43583909C>TClinGen:CA10626956C0043346 Xeroderma pigmentosum;
NM_006502.3(POLH):c.*1650G>A5429POLHUncertain significancers886061449RCV000374046; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358394443583944GA6:g.43583944G>AClinGen:CA10626958C0043346 Xeroderma pigmentosum;
NM_006502.3(POLH):c.*1679C>T5429POLHBenignrs113292021RCV001162616; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358397343583973CT6:g.43583973C>T-
NM_006502.3(POLH):c.*1735A>G5429POLHUncertain significancers886061450RCV000282091; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358402943584029AG6:g.43584029A>GClinGen:CA10622172C0043346 Xeroderma pigmentosum;
NM_006502.3(POLH):c.*1764C>T5429POLHUncertain significancers886061451RCV000348808; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358405843584058CT6:g.43584058C>TClinGen:CA10624014C0043346 Xeroderma pigmentosum;
NM_006502.3(POLH):c.*1778T>C5429POLHUncertain significancers187426826RCV001162617; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358407243584072TC6:g.43584072T>C-
NM_006502.3(POLH):c.*1815T>C5429POLHUncertain significancers886061452RCV000386902; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358410943584109TC6:g.43584109T>CClinGen:CA10626960C0043346 Xeroderma pigmentosum;
NM_006502.3(POLH):c.*1819A>G5429POLHUncertain significancers886061453RCV000295023; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358411343584113AG6:g.43584113A>GClinGen:CA10626961
NM_006502.3(POLH):c.*1841A>G5429POLHUncertain significancers566505638RCV000351778; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358413543584135AG6:g.43584135A>GClinGen:CA10624025
NM_006502.3(POLH):c.*1846G>A5429POLHUncertain significancers886061454RCV000390380; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358414043584140GA6:g.43584140G>AClinGen:CA10626804
NM_006502.3(POLH):c.*1858A>G5429POLHBenignrs9472090RCV000307480; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358415243584152AG6:g.43584152A>GClinGen:CA10626808
NM_006502.3(POLH):c.*1916C>T5429POLHUncertain significancers772988854RCV000346014; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358421043584210CT6:g.43584210C>TClinGen:CA10622173
NM_006502.3(POLH):c.*1925G>A5429POLHUncertain significancers552157109RCV001164675; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358421943584219GA6:g.43584219G>A-
NM_006502.3(POLH):c.*1940G>A5429POLHBenignrs527613993RCV000392915; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358423443584234GA6:g.43584234G>AClinGen:CA10626812
NM_006502.3(POLH):c.*1959A>C5429POLHUncertain significancers553213267RCV000301911; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358425343584253AC6:g.43584253A>CClinGen:CA10624027
NM_006502.3(POLH):c.*1984A>G5429POLHUncertain significancers886061455RCV000359021; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358427843584278AG6:g.43584278A>GClinGen:CA10626814
NM_006502.3(POLH):c.*2074C>T5429POLHUncertain significancers886061457RCV000354893; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358436843584368CT6:g.43584368C>TClinGen:CA10626962
NM_006502.3(POLH):c.*2080G>T5429POLHUncertain significancers573463716RCV000262427; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358437443584374GT6:g.43584374G>TClinGen:CA10624034
NM_006502.3(POLH):c.*2094T>G5429POLHUncertain significancers1768370258RCV001159756; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358438843584388TG6:g.43584388T>G-
NM_006502.3(POLH):c.*2151A>G5429POLHUncertain significancers190641689RCV000319854; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358444543584445AG6:g.43584445A>GClinGen:CA10622175
NM_006502.3(POLH):c.*2269C>T5429POLHLikely benignrs140288120RCV000385894; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358456343584563CT6:g.43584563C>TClinGen:CA10624035
NM_006502.3(POLH):c.*2280A>C5429POLHUncertain significancers886061458RCV000275126; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358457443584574AC6:g.43584574A>CClinGen:CA10626965
NM_006502.3(POLH):c.*2289T>A5429POLHUncertain significancers1282502713RCV001159757; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358458343584583TA6:g.43584583T>A-
NM_006502.3(POLH):c.*2423A>G5429POLHUncertain significancers1768389027RCV001161159; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358471743584717AG6:g.43584717A>G-
NM_006502.3(POLH):c.*2441T>C5429POLHUncertain significancers182931718RCV000332611; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358473543584735TC6:g.43584735T>CClinGen:CA10624049
NM_006502.3(POLH):c.*2454G>A5429POLHUncertain significancers1413984555RCV001161160; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358474843584748GA6:g.43584748G>A-
NM_006502.3(POLH):c.*2489C>T5429POLHBenignrs6922830RCV000389503; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358478343584783CT6:g.43584783C>TClinGen:CA10622177
NM_006502.3(POLH):c.*2499G>A5429POLHBenignrs147353387RCV001161161; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358479343584793GA6:g.43584793G>A-
NM_006502.3(POLH):c.*2513A>T5429POLHLikely benignrs111841811RCV000288440; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358480743584807AT6:g.43584807A>TClinGen:CA10626971
NM_006502.3(POLH):c.*2537G>T5429POLHUncertain significancers757791454RCV001161162; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358483143584831GT6:g.43584831G>T-
NM_006502.3(POLH):c.*2568G>A5429POLHUncertain significancers777431113RCV001161163; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358486243584862GA6:g.43584862G>A-
NM_006502.3(POLH):c.*2573C>T5429POLHUncertain significancers1436713633RCV001162719; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358486743584867CT6:g.43584867C>T-
NM_006502.3(POLH):c.*2600C>T5429POLHUncertain significancers769907355RCV000345722; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358489443584894CT6:g.43584894C>TClinGen:CA10624050
NM_006502.3(POLH):c.*2659T>C5429POLHBenignrs9462906RCV000383909; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358495343584953TC6:g.43584953T>CClinGen:CA10624051
NM_006502.3(POLH):c.*2692G>A5429POLHUncertain significancers886061459RCV000291903; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358498643584986GA6:g.43584986G>AClinGen:CA10626824
NM_006502.3(POLH):c.*2725G>A5429POLHUncertain significancers553948056RCV000340041; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358501943585019GA6:g.43585019G>AClinGen:CA10626826
NM_006502.3(POLH):c.*2814A>G5429POLHUncertain significancers1768416433RCV001162720; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358510843585108AG6:g.43585108A>G-
NM_006502.3(POLH):c.*2844G>A5429POLHUncertain significancers762959721RCV001162721; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358513843585138GA6:g.43585138G>A-
NM_006502.3(POLH):c.*2901T>C5429POLHUncertain significancers187347958RCV000305021; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358519543585195TC6:g.43585195T>CClinGen:CA10626837
NM_006502.3(POLH):c.*2975C>A5429POLHBenignrs112207298RCV000343501; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358526943585269CA6:g.43585269C>AClinGen:CA10622178
NM_006502.3(POLH):c.*3022A>T5429POLHUncertain significancers545966780RCV001164774; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358531643585316AT6:g.43585316A>T-
NM_006502.3(POLH):c.*3067A>T5429POLHUncertain significancers886061462RCV000298068; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358536143585361AT6:g.43585361A>TClinGen:CA10626841
NM_006502.3(POLH):c.*3088G>A5429POLHBenignrs373844625RCV000355289; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358538243585382GA6:g.43585382G>AClinGen:CA10622179
NM_006502.3(POLH):c.*3225G>A5429POLHUncertain significancers566903053RCV000408239; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358551943585519GA6:g.43585519G>AClinGen:CA10626845
NM_006502.3(POLH):c.*3238C>T5429POLHUncertain significancers193130018RCV000311899; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358553243585532CT6:g.43585532C>TClinGen:CA10624071
NM_006502.3(POLH):c.*3250G>A5429POLHLikely benignrs183729246RCV001164775; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358554443585544GA6:g.43585544G>A-
NM_006502.3(POLH):c.*3318G>A5429POLHBenignrs142340697RCV001164776; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358561243585612GA6:g.43585612G>A-
NM_006502.3(POLH):c.*3335C>A5429POLHUncertain significancers886061463RCV000368885; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358562943585629CA6:g.43585629C>AClinGen:CA10626861
NM_006502.3(POLH):c.*3416G>C5429POLHUncertain significancers577482466RCV000276568; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358571043585710GC6:g.43585710G>CClinGen:CA10626972
NM_006502.3(POLH):c.*3472A>G5429POLHBenignrs146828890RCV001159862; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358576643585766AG6:g.43585766A>G-
NM_006502.3(POLH):c.*3608A>T5429POLHUncertain significancers564179351RCV001159863; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358590243585902AT6:g.43585902A>T-
NM_006502.3(POLH):c.*3611T>A5429POLHBenignrs73428626RCV001159864; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358590543585905TA6:g.43585905T>A-
NM_006502.3(POLH):c.*3630C>T5429POLHUncertain significancers901803673RCV001159865; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358592443585924CT6:g.43585924C>T-
NM_006502.3(POLH):c.*3631G>A5429POLHUncertain significancers368674951RCV001159866; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358592543585925GA6:g.43585925G>A-
NM_006502.3(POLH):c.*3670C>T5429POLHUncertain significancers886061464RCV000333990; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358596443585964CT6:g.43585964C>TClinGen:CA10626862
NM_006502.3(POLH):c.*3684C>T5429POLHUncertain significancers909174318RCV001161273; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358597843585978CT6:g.43585978C>T-
NM_006502.3(POLH):c.*3685G>A5429POLHUncertain significancers867865820RCV000362907; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358597943585979GA6:g.43585979G>AClinGen:CA10626973
NM_006502.3(POLH):c.*3692G>A5429POLHUncertain significancers568140214RCV000270570; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358598643585986GA6:g.43585986G>AClinGen:CA10626978
NM_006502.3(POLH):c.*3724G>A5429POLHUncertain significancers1231636799RCV001161274; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358601843586018GA6:g.43586018G>A-
NM_006502.3(POLH):c.*3744G>A5429POLHUncertain significancers181271522RCV000328097; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358603843586038GA6:g.43586038G>AClinGen:CA10626872
NM_006502.3(POLH):c.*3753C>T5429POLHUncertain significancers373349453RCV000384917; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358604743586047CT6:g.43586047C>TClinGen:CA10626979
NM_006502.3(POLH):c.*3769T>C5429POLHUncertain significancers886061465RCV000283329; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358606343586063TC6:g.43586063T>CClinGen:CA10626873
NM_006502.3(POLH):c.*3800T>C5429POLHUncertain significancers184188381RCV000322059; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358609443586094TC6:g.43586094T>CClinGen:CA10622184
NM_006502.3(POLH):c.*3828C>T5429POLHUncertain significancers905445904RCV001162827; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358612243586122CT6:g.43586122C>T-
NM_006502.3(POLH):c.*3842G>A5429POLHUncertain significancers963437814RCV001162828; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358613643586136GA6:g.43586136G>A-
NM_006502.3(POLH):c.*3847G>A5429POLHBenignrs145612937RCV000379029; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358614143586141GA6:g.43586141G>AClinGen:CA10626995
NM_006502.3(POLH):c.*3855A>G5429POLHUncertain significancers1026372453RCV001162829; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358614943586149AG6:g.43586149A>G-
NM_006502.3(POLH):c.*4112C>T5429POLHUncertain significancers189826940RCV000286997; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358640643586406CT6:g.43586406C>TClinGen:CA10624072C0043346 Xeroderma pigmentosum;
NM_006502.3(POLH):c.*4143G>A5429POLHUncertain significancers1414088182RCV001162830; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358643743586437GA6:g.43586437G>A-
NM_006502.3(POLH):c.*4159C>T5429POLHUncertain significancers182038252RCV001162831; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358645343586453CT6:g.43586453C>T-
NM_006502.3(POLH):c.*4160G>A5429POLHUncertain significancers570224794RCV001162832; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358645443586454GA6:g.43586454G>A-
NM_006502.3(POLH):c.*4208G>T5429POLHUncertain significancers987807067RCV001164888; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358650243586502GT6:g.43586502G>T-
NM_006502.3(POLH):c.*4271G>A5429POLHUncertain significancers56786163RCV000335856; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358656543586565GA6:g.43586565G>AClinGen:CA10626874C0043346 Xeroderma pigmentosum;
NM_006502.3(POLH):c.*4310G>A5429POLHUncertain significancers539003236RCV000401690; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358660443586604GA6:g.43586604G>AClinGen:CA10626881C0043346 Xeroderma pigmentosum;
NM_006502.3(POLH):c.*4368C>T5429POLHUncertain significancers764661120RCV000281874; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358666243586662CT6:g.43586662C>TClinGen:CA10624076C0043346 Xeroderma pigmentosum;
NM_006502.3(POLH):c.*4511T>C5429POLHUncertain significancers572839059RCV000392506; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358680543586805TC6:g.43586805T>CClinGen:CA10626885
NM_006502.3(POLH):c.*4624G>A5429POLHUncertain significancers769857583RCV000364480; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358691843586918GA6:g.43586918G>AClinGen:CA10624088
NM_006502.3(POLH):c.*4633C>T5429POLHUncertain significancers886061468RCV000272667; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358692743586927CT6:g.43586927C>TClinGen:CA10626887
NM_006502.3(POLH):c.*4734G>A5429POLHUncertain significancers192191937RCV000320708; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358702843587028GA6:g.43587028G>AClinGen:CA10627004
NM_006502.3(POLH):c.*4767C>T5429POLHUncertain significancers563377707RCV000359072; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358706143587061CT6:g.43587061C>TClinGen:CA10626892
NM_006502.3(POLH):c.*4768G>A5429POLHUncertain significancers181984888RCV001159977; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358706243587062GA6:g.43587062G>A-
NM_006502.3(POLH):c.*4785G>C5429POLHUncertain significancers1483197693RCV001159978; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358707943587079GC6:g.43587079G>C-
NM_006502.3(POLH):c.*4791G>C5429POLHUncertain significancers1768554815RCV001159979; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358708543587085GC6:g.43587085G>C-
NM_006502.3(POLH):c.*4845T>C5429POLHUncertain significancers947397281RCV001159980; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358713943587139TC6:g.43587139T>C-
NM_006502.3(POLH):c.*4857G>A5429POLHUncertain significancers973591123RCV001159981; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358715143587151GA6:g.43587151G>A-
NM_006502.3(POLH):c.*4928T>C5429POLHLikely benignrs556045922RCV000279984; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358722243587222TC6:g.43587222T>CClinGen:CA10622188
NM_006502.3(POLH):c.*4959T>A5429POLHLikely benignrs185032976RCV001159982; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358725343587253TA6:g.43587253T>A-
NM_006502.3(POLH):c.*5007T>A5429POLHUncertain significancers886061472RCV000318679; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358730143587301TA6:g.43587301T>AClinGen:CA10626895
NM_006502.3(POLH):c.*5020G>A5429POLHUncertain significancers1326871134RCV001161387; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358731443587314GA6:g.43587314G>A-
NM_006502.3(POLH):c.*5140C>T5429POLHUncertain significancers950438622RCV001161388; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358743443587434CT6:g.43587434C>T-
NM_006502.3(POLH):c.*5164T>C5429POLHUncertain significancers182401803RCV001161389; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358745843587458TC6:g.43587458T>C-
NM_006502.3(POLH):c.*5199A>G5429POLHUncertain significancers886061475RCV000350013; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358749343587493AG6:g.43587493A>GClinGen:CA10627011
NM_006502.3(POLH):c.*5349T>C5429POLHUncertain significancers886061476RCV000396688; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358764343587643TC6:g.43587643T>CClinGen:CA10626896
NM_006502.3(POLH):c.*5630G>A5429POLHBenignrs116106873RCV000296425; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358792443587924GA6:g.43587924G>AClinGen:CA10626897
NM_006502.3(POLH):c.*5697G>A5429POLHBenignrs113410952RCV000344327; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358799143587991GA6:g.43587991G>AClinGen:CA3827379
NM_006502.3(POLH):c.*5713T>C5429POLHBenignrs75658777RCV000401447; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358800743588007TC6:g.43588007T>CClinGen:CA3827382
NM_006502.3(POLH):c.*5731C>T5429POLHUncertain significancers187080217RCV001162930; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358802543588025CT6:g.43588025C>T-
NM_006502.3(POLH):c.*5786G>A5429POLHUncertain significancers1768632574RCV001162931; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358808043588080GA6:g.43588080G>A-
NM_006502.3(POLH):c.*5933T>A5429POLHBenignrs567230078RCV001162932; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358822743588227TA6:g.43588227T>A-
NM_006502.3(POLH):c.*5934G>A5429POLHBenignrs534751786RCV001162933; NMONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750, Orphanet:9034264358822843588228GA6:g.43588228G>A-
MSeqDR Portal