Varianten
Gen Transkript Variant Proteinaustausch Klassifizierung Eingetragen Labor
NM_000719.6Duplikation Exon 1-13uncertain significance03.11.2020MVZ Dortmund
NM_018896.4c.3704G>Ap.(Arg1235Gln)uncertain significance03.11.2020MVZ Dortmund
NM_000069.2c.2690G>Ap.(Arg897Ser)uncertain significance03.11.2020MVZ Dortmund
NM_201590.2c.1A>Gp.(Met1Val)uncertain significance03.11.2020MVZ Dortmund
NM_015215.3c.5015G>Ap.(Gly1672Glu)uncertain significance03.11.2020MVZ Dortmund
NM_001080414.3c.652G>Tp.(Asp218Tyr)uncertain significance03.11.2020MVZ Dortmund
NM_025114.3c.1579A>Gp.(Lys527Glu)uncertain significance03.11.2020MVZ Dortmund
NM_001297.4c.3131_3149delp.(Ala1044Glyfs*13)likely pathogenic03.11.2020MVZ Dortmund
NM_017890.4c.11509C>Tp.(Arg3837Cys)uncertain significance03.11.2020MVZ Dortmund
NM_017890.4c.3925G>Ap.(Glu1309Lys)uncertain significance03.11.2020MVZ Dortmund
NM_017890.4c.7441G>Ap.(Val2481Ile)uncertain significance03.11.2020MVZ Dortmund
NM_004369.3c.5869G>Ap.(Gly1957Arg)uncertain significance03.11.2020MVZ Dortmund
NM_018122.5c.109delTp.(Ser37Hisfs*26)likely pathogenic03.11.2020MVZ Dortmund
NM_001193416.2c.1532A>Cp.(Lys511Thr)likely pathogenic03.11.2020MVZ Dortmund
NM_001193416.2c.543+1G>Apathogenic03.11.2020MVZ Dortmund