Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000400.3(ERCC2):c.2173G>C (p.Ala725Pro) | 2068 | ERCC2 | Pathogenic | 121913018 | RCV000018270; | N | MedGen:C1866504,OMIM:601675 | 19 | 45855484 | 45855484 | NM_000400.3:c.2173G>C | NP_000391.1:p.Ala725Pro | NC_000019.9:g.45855484C>G | OMIM Allelic Variant:126340.0003 | C1866504 601675 Photosensitive trichothiodystrophy | | |
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) | 2068 | ERCC2 | Pathogenic | 121913026 | RCV000018283; | N | MedGen:C1866504,OMIM:601675 | 19 | 45855493 | 45855493 | NM_000400.3:c.2164C>T | NP_000391.1:p.Arg722Trp | NC_000019.9:g.45855493G>A | OMIM Allelic Variant:126340.0014 | C1866504 601675 Photosensitive trichothiodystrophy | | |
NM_000400.3(ERCC2):c.2137G>C (p.Gly713Arg) | 2068 | ERCC2 | Pathogenic | 121913022 | RCV000018276; | N | MedGen:C1866504,OMIM:601675 | 19 | 45855520 | 45855520 | NM_000400.3:c.2137G>C | NP_000391.1:p.Gly713Arg | NC_000019.9:g.45855520C>G | OMIM Allelic Variant:126340.0008 | C1866504 601675 Photosensitive trichothiodystrophy | | |
NM_000400.3(ERCC2):c.1972C>T (p.Arg658Cys) | 2068 | ERCC2 | Pathogenic | 121913021 | RCV000018275; | N | MedGen:C1866504,OMIM:601675 | 19 | 45855838 | 45855838 | NM_000400.3:c.1972C>T | NP_000391.1:p.Arg658Cys | NC_000019.9:g.45855838G>A | OMIM Allelic Variant:126340.0007 | C1866504 601675 Photosensitive trichothiodystrophy | | |
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) | 2068 | ERCC2 | Pathogenic | 121913016 | RCV000018267; RCV000171546; RCV000120764; | N | MedGen:C0268138,OMIM:278730,SNOMED CT:68637004; MedGen:C1866504,OMIM:601675; MedGen:CN169374 | 19 | 45860626 | 45860626 | NM_000400.3:c.1381C>G | NP_000391.1:p.Leu461Val | NC_000019.9:g.45860626G>C | OMIM Allelic Variant:126340.0001 | CN169374 not specified; C1866504 601675 Photosensitive trichothiodystrophy; C0268138 278730 Xeroderma pigmentosum, group D | | |
NM_000400.3(ERCC2):c.335G>A (p.Arg112His) | 2068 | ERCC2 | Pathogenic | 121913020 | RCV000018274; RCV000018273; | N | MedGen:C0268138,OMIM:278730,SNOMED CT:68637004; MedGen:C1866504,OMIM:601675 | 19 | 45871913 | 45871913 | NM_000400.3:c.335G>A | NP_000391.1:p.Arg112His | NC_000019.9:g.45871913C>T | OMIM Allelic Variant:126340.0006 | C1866504 601675 Photosensitive trichothiodystrophy; C0268138 278730 Xeroderma pigmentosum, group D | | |
NM_207118.2(GTF2H5):c.62T>C (p.Leu21Pro) | 404672 | GTF2H5 | Pathogenic | 121434365 | RCV000002185; | N | MedGen:C1866504,OMIM:601675 | 6 | 158613035 | 158613035 | NM_207118.2:c.62T>C | NP_997001.1:p.Leu21Pro | NC_000006.11:g.158613035T>C | OMIM Allelic Variant:608780.0002 | C1866504 601675 Photosensitive trichothiodystrophy | | |
NM_207118.2(GTF2H5):c.166C>T (p.Arg56Ter) | 404672 | GTF2H5 | Pathogenic | 121434364 | RCV000002184; | N | MedGen:C1866504,OMIM:601675 | 6 | 158613139 | 158613139 | NM_207118.2:c.166C>T | NP_997001.1:p.Arg56Ter | NC_000006.11:g.158613139C>T | OMIM Allelic Variant:608780.0001 | C1866504 601675 Photosensitive trichothiodystrophy | | |
NM_138701.3(MPLKIP):c.505dupA (p.Thr169Asnfs) | 136647 | MPLKIP | Pathogenic | 768342562 | RCV000202381; | N | MedGen:C1866504,OMIM:601675 | 7 | 40172693 | 40172693 | NM_138701.3:c.505dupA | NP_619646.1:p.Thr169Asnfs | NC_000007.13:g.40172693dupT | - | C1866504 601675 Photosensitive trichothiodystrophy | | |