Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_000380.4(XPA):c.*439G>C | 7507 | XPA | Uncertain significance | rs548728905 | RCV001168954; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100437282 | 100437282 | C | G | 9:g.100437282C>G | - | | |
NM_000380.4(XPA):c.*428T>C | 7507 | XPA | Uncertain significance | rs143474170 | RCV000365861; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100437293 | 100437293 | A | G | 9:g.100437293A>G | ClinGen:CA10634627 | C0043346 Xeroderma pigmentosum; | |
NM_000380.4(XPA):c.*278T>C | 7507 | XPA | Benign | rs3176753 | RCV000390745|RCV001672709; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100437443 | 100437443 | A | G | NC_000009.11:g.100437443A>G | ClinGen:CA5148630 | C0043346 Xeroderma pigmentosum; | |
NM_000380.4(XPA):c.*256G>C | 7507 | XPA | Uncertain significance | rs886063215 | RCV000312878; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100437465 | 100437465 | C | G | NC_000009.11:g.100437465C>G | ClinGen:CA10634274 | C0043346 Xeroderma pigmentosum; | |
NM_000380.4(XPA):c.*236G>A | 7507 | XPA | Uncertain significance | rs1828314205 | RCV001166056; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100437485 | 100437485 | C | T | 9:g.100437485C>T | - | | |
NM_000380.4(XPA):c.*234C>A | 7507 | XPA | Benign | rs3176752 | RCV000277679|RCV001618665; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100437487 | 100437487 | G | T | NC_000009.11:g.100437487G>T | ClinGen:CA5148635 | C0043346 Xeroderma pigmentosum; | |
NM_000380.4(XPA):c.*203C>G | 7507 | XPA | Benign | rs3176751 | RCV000332786|RCV001662345; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100437518 | 100437518 | G | C | NC_000009.11:g.100437518G>C | ClinGen:CA5148636 | C0043346 Xeroderma pigmentosum; | |
NM_000380.4(XPA):c.*178A>C | 7507 | XPA | Uncertain significance | rs963196708 | RCV001166057; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100437543 | 100437543 | T | G | 9:g.100437543T>G | - | | |
NM_000380.4(XPA):c.*77C>A | 7507 | XPA | Uncertain significance | rs886063216 | RCV000354649; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100437644 | 100437644 | G | T | NC_000009.11:g.100437644G>T | ClinGen:CA10627771 | C0043346 Xeroderma pigmentosum; | |
NM_000380.4(XPA):c.*54T>C | 7507 | XPA | Uncertain significance | rs557709427 | RCV001166525; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100437667 | 100437667 | A | G | 9:g.100437667A>G | - | | |
NM_000380.4(XPA):c.817dup (p.Met273fs) | 7507 | XPA | Uncertain significance | rs754458042 | RCV000674725; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100437725 | 100437726 | A | AT | 9:g.100437725_100437726insT | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.809_810del (p.Thr269_Tyr270insTer) | 7507 | XPA | Uncertain significance | rs1554699256 | RCV000674574; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100437733 | 100437734 | CAT | C | 9:g.100437733_100437734del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.772_785del (p.Arg258fs) | 7507 | XPA | Pathogenic/Likely pathogenic | rs778543124 | RCV000667095|RCV001291566; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100437758 | 100437771 | AGTACAAGTCTTACG | A | 9:g.100437758_100437771del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.774dup (p.Lys259Ter) | 7507 | XPA | Likely pathogenic | rs752573039 | RCV000674229; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100437768 | 100437769 | T | TA | 9:g.100437768_100437769insA | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.774T>A (p.Arg258=) | 7507 | XPA | Conflicting interpretations of pathogenicity | rs746694561 | RCV000913206|RCV001166526; | N | MedGen:CN517202|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100437769 | 100437769 | A | T | 9:g.100437769A>T | - | | |
NM_000380.4(XPA):c.772C>T (p.Arg258Cys) | 7507 | XPA | Uncertain significance | rs188860873 | RCV000122320|RCV001166527; | N | MedGen:CN169374|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100437771 | 100437771 | G | A | 9:g.100437771G>A | ClinGen:CA162844 | CN169374 not specified; | |
NM_000380.4(XPA):c.766A>G (p.Met256Val) | 7507 | XPA | Benign/Likely benign | rs57519506 | RCV000122318|RCV000260012|RCV000861170; | N | MedGen:CN169374|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100437777 | 100437777 | T | C | 9:g.100437777T>C | ClinGen:CA162838,UniProtKB:P23025#VAR_061987 | CN169374 not specified; | |
NM_000380.4(XPA):c.756AGA[1] (p.Glu253del) | 7507 | XPA | Uncertain significance | rs758358436 | RCV000668503; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100437782 | 100437784 | ATCT | A | 9:g.100437782_100437784del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.754C>G (p.Leu252Val) | 7507 | XPA | Benign/Likely benign | rs3176750 | RCV000122319|RCV000319809|RCV000860760; | N | MedGen:CN169374|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100437789 | 100437789 | G | C | 9:g.100437789G>C | ClinGen:CA162841,UniProtKB:P23025#VAR_020324 | CN169374 not specified; | |
NM_000380.4(XPA):c.732dup (p.Glu245Ter) | 7507 | XPA | Pathogenic/Likely pathogenic | rs1554699296 | RCV000667814|RCV001388621; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100437810 | 100437811 | C | CA | 9:g.100437810_100437811insA | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.731A>G (p.His244Arg) | 7507 | XPA | Uncertain significance | rs144725456 | RCV000668335; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100437812 | 100437812 | T | C | NC_000009.11:g.100437812T>C | ClinGen:CA5148691,UniProtKB:P23025#VAR_007731 | C0043346 Xeroderma pigmentosum; | |
NM_000380.4(XPA):c.690AAG[1] (p.Arg231del) | 7507 | XPA | Uncertain significance | rs1554699326 | RCV000671297; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100437848 | 100437850 | GCTT | G | 9:g.100437848_100437850del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.683G>A (p.Arg228Gln) | 7507 | XPA | Uncertain significance | rs1805160 | RCV000122321|RCV000665473; | N | MedGen:CN169374|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100437860 | 100437860 | C | T | 9:g.100437860C>T | ClinGen:CA162847,UniProtKB:P23025#VAR_014799 | CN169374 not specified; | |
NM_000380.4(XPA):c.682C>T (p.Arg228Ter) | 7507 | XPA | Pathogenic | rs104894132 | RCV000001050|RCV000781924|RCV000815514; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MedGen:CN517202 | 9 | 100437861 | 100437861 | G | A | 9:g.100437861G>A | ClinGen:CA251650,OMIM:611153.0004 | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.677T>A (p.Leu226Ter) | 7507 | XPA | Pathogenic/Likely pathogenic | rs1554699334 | RCV000670364|RCV001035389; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100437866 | 100437866 | A | T | 9:g.100437866A>T | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.673+2T>C | 7507 | XPA | Likely pathogenic | rs1019535182 | RCV000674401; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100447203 | 100447203 | A | G | 9:g.100447203A>G | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.666dup (p.Val223fs) | 7507 | XPA | Pathogenic/Likely pathogenic | rs1554701103 | RCV000668902|RCV000781922|RCV001230774; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MedGen:CN517202 | 9 | 100447211 | 100447212 | C | CT | 9:g.100447211_100447212insT | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.651G>T (p.Lys217Asn) | 7507 | XPA | Uncertain significance | -1 | RCV001761800; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100447227 | 100447227 | C | A | 100447227 | - | | |
NM_000380.4(XPA):c.648_649del (p.Lys217fs) | 7507 | XPA | Pathogenic | rs1057519018 | RCV000415712|RCV001865309; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100447229 | 100447230 | TTC | T | 9:g.100447229_100447230del | ClinGen:CA16043982 | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.642_645dup (p.Gln216fs) | 7507 | XPA | Pathogenic/Likely pathogenic | rs764582394 | RCV000674093|RCV001868278; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100447232 | 100447233 | G | GTTTC | 9:g.100447232_100447233insTTTC | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.646C>T (p.Gln216Ter) | 7507 | XPA | Pathogenic/Likely pathogenic | rs761978351 | RCV000669338|RCV001855518; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100447232 | 100447232 | G | A | 9:g.100447232G>A | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.631dup (p.Arg211fs) | 7507 | XPA | Likely pathogenic | rs1554701129 | RCV000670038; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100447246 | 100447247 | C | CG | 9:g.100447246_100447247insG | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.631C>T (p.Arg211Ter) | 7507 | XPA | Pathogenic/Likely pathogenic | rs149226993 | RCV000666956|RCV001045901|RCV000781923; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910 | 9 | 100447247 | 100447247 | G | A | 9:g.100447247G>A | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.620G>A (p.Arg207Gln) | 7507 | XPA | Uncertain significance | -1 | RCV001761801; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100447258 | 100447258 | C | T | 100447258 | - | | |
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) | 7507 | XPA | Pathogenic | rs104894133 | RCV000001051|RCV000657642|RCV001420782; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910 | 9 | 100447259 | 100447259 | G | A | 9:g.100447259G>A | ClinGen:CA251653,OMIM:611153.0005 | CN517202 not provided; | |
NM_000380.4(XPA):c.598_609dup (p.Leu200_Ala203dup) | 7507 | XPA | Uncertain significance | rs1554701135 | RCV000670857; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100447268 | 100447269 | T | TTGCTTCTTCTAA | 9:g.100447268_100447269insTGCTTCTTCTAA | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.601_602del (p.Glu201fs) | 7507 | XPA | Likely pathogenic | rs1554701139 | RCV000672325; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100447276 | 100447277 | TTC | T | 9:g.100447276_100447277del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.599T>G (p.Leu200Ter) | 7507 | XPA | Likely pathogenic | rs755803064 | RCV000674552; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100447279 | 100447279 | A | C | 9:g.100447279A>C | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.572_573del (p.Leu191fs) | 7507 | XPA | Likely pathogenic | rs1554701144 | RCV000671796; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100447305 | 100447306 | CAA | C | 9:g.100447305_100447306del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.571C>G (p.Leu191Val) | 7507 | XPA | Conflicting interpretations of pathogenicity | rs562768588 | RCV000122316|RCV000665704|RCV000930543; | N | MedGen:CN169374|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100447307 | 100447307 | G | C | 9:g.100447307G>C | ClinGen:CA162832 | CN169374 not specified; | |
NM_000380.4(XPA):c.568T>G (p.Ser190Ala) | 7507 | XPA | Likely benign | rs555812588 | RCV000122317|RCV000284878|RCV000907023; | N | MedGen:CN169374|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100447310 | 100447310 | A | C | 9:g.100447310A>C | ClinGen:CA162835 | CN169374 not specified; | |
NM_000380.4(XPA):c.563del (p.Lys188fs) | 7507 | XPA | Likely pathogenic | rs1554701152 | RCV000674742; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100447315 | 100447315 | CT | C | 9:g.100447315_100447315del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.555+2T>A | 7507 | XPA | Likely pathogenic | rs1554701478 | RCV000668662; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100449376 | 100449376 | A | T | 9:g.100449376A>T | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.555+1G>A | 7507 | XPA | Likely pathogenic | rs1554701481 | RCV000670923; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100449377 | 100449377 | C | T | 9:g.100449377C>T | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.555G>C (p.Gln185His) | 7507 | XPA | Pathogenic/Likely pathogenic | rs746617574 | RCV000665444|RCV001174635|RCV001855442; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MedGen:CN517202 | 9 | 100449378 | 100449378 | C | G | 9:g.100449378C>G | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.553C>T (p.Gln185Ter) | 7507 | XPA | Pathogenic | rs1828741490 | RCV001172311|RCV001386670; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100449380 | 100449380 | G | A | 9:g.100449380G>A | - | | |
NM_000380.4(XPA):c.548del (p.Lys183fs) | 7507 | XPA | Likely pathogenic | rs1554701488 | RCV000665796; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100449385 | 100449385 | CT | C | 9:g.100449385_100449385del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.545_546insTA (p.Leu182fs) | 7507 | XPA | Pathogenic | rs786205205 | RCV000170428; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100449387 | 100449388 | T | TTA | 9:g.100449387_100449388insTA | ClinGen:CA274751 | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.532dup (p.Met178fs) | 7507 | XPA | Likely pathogenic | rs1326841833 | RCV000673845; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100449400 | 100449401 | A | AT | 9:g.100449400_100449401insT | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.494T>C (p.Ile165Thr) | 7507 | XPA | Uncertain significance | rs1828743987 | RCV001166528; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100449439 | 100449439 | A | G | 9:g.100449439A>G | - | | |
NM_000380.4(XPA):c.476_477del (p.Glu159fs) | 7507 | XPA | Likely pathogenic | rs781195170 | RCV000671391; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100449456 | 100449457 | GCT | G | 9:g.100449456_100449457del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.472dup (p.Arg158fs) | 7507 | XPA | Likely pathogenic | rs1554701520 | RCV000670758; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100449460 | 100449461 | C | CT | 9:g.100449460_100449461insT | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.459_460del (p.Cys153_Asp154delinsTer) | 7507 | XPA | Pathogenic/Likely pathogenic | rs1240801740 | RCV000670444|RCV001385775; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100449473 | 100449474 | TCA | T | 9:g.100449473_100449474del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.460G>C (p.Asp154His) | 7507 | XPA | Uncertain significance | -1 | RCV001761802; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100449473 | 100449473 | C | G | 100449473 | - | | |
NM_000380.4(XPA):c.452A>G (p.Lys151Arg) | 7507 | XPA | Uncertain significance | rs983722547 | RCV001168272; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100449481 | 100449481 | T | C | 9:g.100449481T>C | - | | |
NM_000380.4(XPA):c.451A>T (p.Lys151Ter) | 7507 | XPA | Likely pathogenic | rs1554701532 | RCV000669539; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100449482 | 100449482 | T | A | 9:g.100449482T>A | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.438_443del (p.Gln146_Tyr148delinsHis) | 7507 | XPA | Likely pathogenic | rs1564045331 | RCV000754105; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100449490 | 100449495 | ATATTCT | A | NC_000009.11:g.100449491_100449496del | - | | |
NM_000380.4(XPA):c.439_441del (p.Glu147del) | 7507 | XPA | Uncertain significance | rs1554701535 | RCV000666912; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100449492 | 100449494 | ATTC | A | 9:g.100449492_100449494del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.428_429del (p.Glu143fs) | 7507 | XPA | Pathogenic/Likely pathogenic | rs1554701540 | RCV000670791|RCV001861798; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100449504 | 100449505 | CCT | C | 9:g.100449504_100449505del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.397GAT[1] (p.Asp134del) | 7507 | XPA | Uncertain significance | rs1554701553 | RCV000674693; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100449531 | 100449533 | TATC | T | 9:g.100449531_100449533del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.391del (p.Asp131fs) | 7507 | XPA | Likely pathogenic | rs1554701563 | RCV000673546; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100449542 | 100449542 | TC | T | 9:g.100449542_100449542del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.390-1G>C | 7507 | XPA | Pathogenic | rs750218942 | RCV000246304|RCV001063951|RCV001255518; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910 | 9 | 100449544 | 100449544 | C | G | 9:g.100449544C>G | ClinGen:CA5148823,OMIM:611153.0001 | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.389+1G>A | 7507 | XPA | Likely pathogenic | rs1554701931 | RCV000673551; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100451815 | 100451815 | C | T | 9:g.100451815C>T | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.389G>A (p.Arg130Lys) | 7507 | XPA | Uncertain significance | rs1324310300 | RCV000666137; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100451816 | 100451816 | C | T | 9:g.100451816C>T | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.378T>G (p.Cys126Trp) | 7507 | XPA | Uncertain significance | rs1451780491 | RCV000668799; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100451827 | 100451827 | A | C | 9:g.100451827A>C | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.374del (p.Thr125fs) | 7507 | XPA | Pathogenic | rs1828818571 | RCV001172312; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100451831 | 100451831 | AG | A | 9:g.100451831_100451831del | - | | |
NM_000380.4(XPA):c.349_353del (p.Leu117fs) | 7507 | XPA | Pathogenic | rs1200172747 | RCV000001049|RCV000780797|RCV001057886; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MedGen:CN517202 | 9 | 100451852 | 100451856 | CATAAG | C | 9:g.100451852_100451856del | ClinGen:CA589324705,OMIM:611153.0003 | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.348T>A (p.Tyr116Ter) | 7507 | XPA | Pathogenic | rs104894134 | RCV000001052; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100451857 | 100451857 | A | T | 9:g.100451857A>T | OMIM:611153.0006,ClinGen:CA251656 | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.344_346del (p.Ser115del) | 7507 | XPA | Uncertain significance | rs1554701942 | RCV000672670; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100451859 | 100451861 | TAAG | T | 9:g.100451859_100451861del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.338_339del (p.Met113fs) | 7507 | XPA | Pathogenic/Likely pathogenic | rs748286715 | RCV000668826|RCV001855507; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100451866 | 100451867 | CCA | C | 9:g.100451866_100451867del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.335_338delinsCATAAGAAA (p.Phe112_Met113delinsSerTer) | 7507 | XPA | Pathogenic | rs886039226 | RCV000254511; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100451867 | 100451870 | ATAA | TTTCTTATG | 9:g.100451867_100451868insTTCTTATG | ClinGen:CA10587998 | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.331G>T (p.Glu111Ter) | 7507 | XPA | Pathogenic | rs769255883 | RCV000674100|RCV001194216|RCV001230906; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MONDO:MONDO:0019600,MedGen:C0043346, Orphanet:910|MedGen:CN517202 | 9 | 100451874 | 100451874 | C | A | 9:g.100451874C>A | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.323G>T (p.Cys108Phe) | 7507 | XPA | Uncertain significance | rs104894131 | RCV000001048; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100451882 | 100451882 | C | A | 9:g.100451882C>A | UniProtKB:P23025#VAR_007728,OMIM:611153.0002,ClinGen:CA251648 | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.323G>A (p.Cys108Tyr) | 7507 | XPA | Conflicting interpretations of pathogenicity | rs104894131 | RCV000492893|RCV000672811; | N | MedGen:CN517202|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100451882 | 100451882 | C | T | 9:g.100451882C>T | ClinGen:CA374187825 | CN517202 not provided; | |
NM_000380.4(XPA):c.289G>A (p.Val97Ile) | 7507 | XPA | Benign/Likely benign | rs10983315 | RCV000903901|RCV001168273; | N | MedGen:CN517202|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100451916 | 100451916 | C | T | 9:g.100451916C>T | - | | |
NM_000380.4(XPA):c.283+1_283+6del | 7507 | XPA | Likely pathogenic | rs1554702597 | RCV000670391; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100455925 | 100455930 | ACTTTAC | A | 9:g.100455925_100455930del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.238GAA[3] (p.Glu83_Glu84del) | 7507 | XPA | Uncertain significance | rs3176652 | RCV000670938; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100455962 | 100455967 | GTTCTTC | G | 9:g.100455962_100455967del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.237_242del (p.Glu83_Glu84del) | 7507 | XPA | Uncertain significance | rs1554702607 | RCV000670368; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100455972 | 100455977 | TTCTTCC | T | 9:g.100455972_100455977del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.235G>T (p.Glu79Ter) | 7507 | XPA | Likely pathogenic | rs1554702608 | RCV000671257; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100455979 | 100455979 | C | A | 9:g.100455979C>A | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.197del (p.Pro66fs) | 7507 | XPA | Likely pathogenic | rs1554702629 | RCV000671795; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100456017 | 100456017 | TG | T | 9:g.100456017_100456017del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.172+11C>T | 7507 | XPA | Likely benign | rs766386535 | RCV000380374; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100459392 | 100459392 | G | A | NC_000009.11:g.100459392G>A | ClinGen:CA5148902 | C0043346 Xeroderma pigmentosum; | |
NM_000380.4(XPA):c.172+2T>G | 7507 | XPA | Pathogenic | rs1587755557 | RCV000001053; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100459401 | 100459401 | A | C | 9:g.100459401A>C | OMIM:611153.0007 | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.172+1G>T | 7507 | XPA | Likely pathogenic | rs1554703119 | RCV000672997; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100459402 | 100459402 | C | A | 9:g.100459402C>A | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.172+1G>A | 7507 | XPA | Likely pathogenic | rs1554703119 | RCV000667207|RCV001855476; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100459402 | 100459402 | C | T | 9:g.100459402C>T | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.152C>G (p.Thr51Arg) | 7507 | XPA | Uncertain significance | -1 | RCV001761803; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100459423 | 100459423 | G | C | 100459423 | - | | |
NM_000380.4(XPA):c.122C>T (p.Ala41Val) | 7507 | XPA | Uncertain significance | -1 | RCV001761804; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100459453 | 100459453 | G | A | 100459453 | - | | |
NM_000380.4(XPA):c.110T>A (p.Met37Lys) | 7507 | XPA | Uncertain significance | -1 | RCV001761805; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100459465 | 100459465 | A | T | 100459465 | - | | |
NM_000380.4(XPA):c.47A>G (p.Gln16Arg) | 7507 | XPA | Uncertain significance | rs756527969 | RCV001168274; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100459528 | 100459528 | T | C | 9:g.100459528T>C | - | | |
NM_000380.4(XPA):c.12_38del (p.Asp5_Ala13del) | 7507 | XPA | Uncertain significance | rs755109935 | RCV000671878; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100459537 | 100459563 | AGCCGCCGCCTCCGGCAAAGCCCCGTCG | A | 9:g.100459537_100459563del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.-4_26del (p.Met1_Pro9del) | 7507 | XPA | Likely pathogenic | rs1554703183 | RCV000672862; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100459549 | 100459578 | CGGCAAAGCCCCGTCGGCCGCCGCCATCTCT | C | 9:g.100459549_100459578del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.13G>T (p.Asp5Tyr) | 7507 | XPA | Uncertain significance | rs574504791 | RCV001168275; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100459562 | 100459562 | C | A | 9:g.100459562C>A | - | | |
NM_000380.4(XPA):c.10del (p.Ala4fs) | 7507 | XPA | Pathogenic/Likely pathogenic | rs779161471 | RCV000666403|RCV000809436; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100459565 | 100459565 | GC | G | NC_000009.11:g.100459566del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.2T>C (p.Met1Thr) | 7507 | XPA | Likely pathogenic | rs1253496792 | RCV000666994; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100459573 | 100459573 | A | G | 9:g.100459573A>G | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_000380.4(XPA):c.-4A>G | 7507 | XPA | Benign | rs1800975 | RCV000170427|RCV000286055|RCV001509817; | N | MedGen:CN169374|MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910|MedGen:CN517202 | 9 | 100459578 | 100459578 | T | C | 9:g.100459578T>C | ClinGen:CA199614 | CN169374 not specified; | |
NM_000380.4(XPA):c.-43G>A | 7507 | XPA | Uncertain significance | rs886063217 | RCV000674155; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100459617 | 100459617 | C | T | NC_000009.11:g.100459617C>T | ClinGen:CA10630695 | C0043346 Xeroderma pigmentosum; | |
NM_000380.3(XPA):c.-72_-47del | 7507 | XPA | Uncertain significance | rs1249073186 | RCV000672399; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100459621 | 100459646 | ACTGCACGCCGAGGCGAGCCAGCCGCC | A | 9:g.100459621_100459646del | - | C0268135 278700 Xeroderma pigmentosum, type 1; | |
NM_001354975.1(XPA):c.-1199G>T | 7507 | XPA | Uncertain significance | rs1237254220 | RCV001169010; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100459624 | 100459624 | C | A | 9:g.100459624C>A | - | | |
NM_000380.3(XPA):c.-66T>G | 7507 | XPA | Uncertain significance | rs886063218 | RCV000669719; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100459640 | 100459640 | A | C | NC_000009.11:g.100459640A>C | ClinGen:CA10634281 | C0043346 Xeroderma pigmentosum; | |
NM_000380.3(XPA):c.-74A>C | 7507 | XPA | Uncertain significance | rs3176631 | RCV000292108; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100459648 | 100459648 | T | G | 9:g.100459648T>G | ClinGen:CA5148980 | C0043346 Xeroderma pigmentosum; | |
NM_000380.3(XPA):c.-88C>A | 7507 | XPA | Uncertain significance | rs371959589 | RCV000347034; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 9 | 100459662 | 100459662 | G | T | 9:g.100459662G>T | ClinGen:CA5148987 | C0043346 Xeroderma pigmentosum; | |
NM_004628.5(XPC):c.2034-1G>A | 7508 | XPC | Likely pathogenic | rs869025275 | RCV000207299; | N | MONDO:MONDO:0010210,MedGen:C0268135,OMIM:278700, Orphanet:910 | 3 | 14193917 | 14193917 | C | T | NC_000003.11:g.14193917C>T | ClinGen:CA353867 | C0268135 278700 Xeroderma pigmentosum, type 1; | |