Varianten
Gen Transkript Variant Proteinaustausch Klassifizierung Eingetragen Labor
NM_000297.3c.1142G>Ap.(Gly381Glu)uncertain significance03.11.2020MVZ Dortmund
NM_000297.3c.2019+1_2019+5delpathogenic03.11.2020MVZ Dortmund
NM_000297.3c.2897T>Gp.(Val966Gly)uncertain significance03.11.2020MVZ Dortmund
NM_138694.3c.8894G>Ap.(Cys2965Tyr)likely pathogenic03.11.2020MVZ Dortmund
PLEC
PLEC1
NM_000445.4c.12223G>Ap. (Ala4075Thr)uncertain significance03.11.2020MVZ Dortmund
NM_015869.4c.485T>Gp.(Phe162Cys)likely pathogenic03.11.2020MVZ Dortmund
NM_002906.3c.720delp.(Trp242Glyfs*16)pathogenic03.11.2020MVZ Dortmund
NM_015272.4c.(85+1_86-1)_(230+1_231-1)p.(Thr30Trpfs*5)pathogenic03.11.2020MVZ Dortmund
NM_015272.4c.164delp.(Leu55Cysfs*28)pathogenic03.11.2020MVZ Dortmund
NM_004586.2c.404A>Gp.(Tyr135Cys)likely pathogenic03.11.2020MVZ Dortmund
NM_001202435.2c.2252delp.(Ser751Phefs*5)likely pathogenic03.11.2020MVZ Dortmund
NM_001165963.3c.2920_2922dupATGp.(Met974dup)likely pathogenic03.11.2020MVZ Dortmund
NM_006922.3c.3015G>Tp.(Gln1005His)uncertain significance03.11.2020MVZ Dortmund
NM_006922.3c.3838G>Ap.(Val1280Ile)uncertain significance03.11.2020MVZ Dortmund
NM_198056.2c.2974C>Tp.(Pro992Ser)uncertain significance03.11.2020MVZ Dortmund