Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_018419.2(SOX18):c.481C>T (p.Gln161Ter) | -1 | - | Pathogenic | 794728015 | RCV000184062; | N | MedGen:C1843004,OMIM:607823,ORPHA:69735 | 20 | 62680193 | 62680193 | NM_018419.2:c.481C>T | NP_060889.1:p.Gln161Ter | NC_000020.10:g.62680193G>A | - | C1843004 607823 Hypotrichosis-lymphedema-telangiectasia syndrome | | |
NM_018419.2(SOX18):c.310G>C (p.Ala104Pro) | -1 | - | Pathogenic | 28936692 | RCV000008464; | N | MedGen:C1843004,OMIM:607823,ORPHA:69735 | 20 | 62680560 | 62680560 | NM_018419.2:c.310G>C | NP_060889.1:p.Ala104Pro | NC_000020.10:g.62680560C>G | OMIM Allelic Variant:601618.0001 | C1843004 607823 Hypotrichosis-lymphedema-telangiectasia syndrome | | |
NM_018419.2(SOX18):c.283T>A (p.Trp95Arg) | -1 | - | Pathogenic | 28936693 | RCV000008465; | N | MedGen:C1843004,OMIM:607823,ORPHA:69735 | 20 | 62680587 | 62680587 | NM_018419.2:c.283T>A | NP_060889.1:p.Trp95Arg | NC_000020.10:g.62680587A>T | OMIM Allelic Variant:601618.0002 | C1843004 607823 Hypotrichosis-lymphedema-telangiectasia syndrome | | |