Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_005378.5(MYCN):c.217G>T (p.Glu73Ter) | 4613 | MYCN | Pathogenic | 113994115 | RCV000014910; | N | MedGen:C0796068,OMIM:164280,ORPHA:391641 | 2 | 16082403 | 16082403 | NM_005378.5:c.217G>T | NP_005369.2:p.Glu73Ter | NC_000002.11:g.16082403G>T | OMIM Allelic Variant:164840.0004 | C0796068 164280 Feingold syndrome 1 | | |
NM_005378.5(MYCN):c.231G>A (p.Trp77Ter) | 4613 | MYCN | Pathogenic | 121913667 | RCV000014909; | N | MedGen:C0796068,OMIM:164280,ORPHA:391641 | 2 | 16082417 | 16082417 | NM_005378.5:c.231G>A | NP_005369.2:p.Trp77Ter | NC_000002.11:g.16082417G>A | OMIM Allelic Variant:164840.0007 | C0796068 164280 Feingold syndrome 1 | | |
NM_005378.5(MYCN):c.1145G>A (p.Arg382His) | 4613 | MYCN | Pathogenic | 121913666 | RCV000014912; | N | MedGen:C0796068,OMIM:164280,ORPHA:391641 | 2 | 16085969 | 16085969 | NM_005378.5:c.1145G>A | NP_005369.2:p.Arg382His | NC_000002.11:g.16085969G>A | OMIM Allelic Variant:164840.0006 | C0796068 164280 Feingold syndrome 1 | | |
NM_005378.5(MYCN):c.1177C>A (p.Arg393Ser) | 4613 | MYCN | Pathogenic | 104893647 | RCV000014907; | N | MedGen:C0796068,OMIM:164280,ORPHA:391641 | 2 | 16086001 | 16086001 | NM_005378.5:c.1177C>A | NP_005369.2:p.Arg393Ser | NC_000002.11:g.16086001C>A | OMIM Allelic Variant:164840.0002 | C0796068 164280 Feingold syndrome 1 | | |
NM_005378.5(MYCN):c.1178G>A (p.Arg393His) | 4613 | MYCN | Pathogenic | 104893646 | RCV000014906; | N | MedGen:C0796068,OMIM:164280,ORPHA:391641 | 2 | 16086002 | 16086002 | NM_005378.5:c.1178G>A | NP_005369.2:p.Arg393His | NC_000002.11:g.16086002G>A | OMIM Allelic Variant:164840.0001 | C0796068 164280 Feingold syndrome 1 | | |
NM_005378.5(MYCN):c.1181G>A (p.Arg394His) | 4613 | MYCN | Pathogenic | 104893648 | RCV000014908; | N | MedGen:C0796068,OMIM:164280,ORPHA:391641 | 2 | 16086005 | 16086005 | NM_005378.5:c.1181G>A | NP_005369.2:p.Arg394His | NC_000002.11:g.16086005G>A | OMIM Allelic Variant:164840.0003 | C0796068 164280 Feingold syndrome 1 | | |