Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_016835.4(MAPT):c.14G>T (p.Arg5Leu) | 4137 | MAPT | Pathogenic | 63750959 | RCV000015332; RCV000084498; | N | MedGen:C0038868,OMIM:601104,ORPHA:683,SNOMED CT:28978003; MedGen:CN221809 | 17 | 44039717 | 44039717 | NM_016835.4:c.14G>T | NP_058519.3:p.Arg5Leu | NC_000017.10:g.44039717G>A,NC_000017.10:g.44039717G>T | OMIM Allelic Variant:157140.0019 | CN221809 not provided; C0038868 601104 Progressive supranuclear ophthalmoplegia | | |
NM_016835.4(MAPT):c.1853C>T (p.Pro618Leu) | 4137 | MAPT | Pathogenic | 63751273 | RCV000015313; RCV000015314; RCV000084527; | N | MedGen:C0038868,OMIM:601104,ORPHA:683,SNOMED CT:28978003; MedGen:C0338451,OMIM:600274,ORPHA:282,SNOMED CT:230270009; MedGen:CN221809 | 17 | 44087755 | 44087755 | NM_016835.4:c.1853C>T | NP_058519.3:p.Pro618Leu | NC_000017.10:g.44087755C>T | OMIM Allelic Variant:157140.0001 | C0338451 600274 Frontotemporal dementia; CN221809 not provided; C0038868 601104 Progressive supranuclear ophthalmoplegia | | |
NM_016835.4(MAPT):c.1859G>T (p.Gly620Val) | 4137 | MAPT | Pathogenic | 63751391 | RCV000015339; RCV000084529; | N | MedGen:C0038868,OMIM:601104,ORPHA:683,SNOMED CT:28978003; MedGen:CN221809 | 17 | 44087761 | 44087761 | NM_016835.4:c.1859G>T | NP_058519.3:p.Gly620Val | NC_000017.10:g.44087761G>T | OMIM Allelic Variant:157140.0025 | CN221809 not provided; C0038868 601104 Progressive supranuclear ophthalmoplegia | | |
NM_016835.4(MAPT):c.2006C>T (p.Ser669Leu) | 4137 | MAPT | Pathogenic | 63750425 | RCV000015337; RCV000084550; | N | MedGen:C0038868,OMIM:601104,ORPHA:683,SNOMED CT:28978003; MedGen:CN221809 | 17 | 44096041 | 44096041 | NM_016835.4:c.2006C>T | NP_058519.3:p.Ser669Leu | NC_000017.10:g.44096041C>T | OMIM Allelic Variant:157140.0023 | CN221809 not provided; C0038868 601104 Progressive supranuclear ophthalmoplegia | | |