Varianten
Gen Transkript Variant Proteinaustausch Klassifizierung Eingetragen Labor
NM_000443.3c.2624T>Cp.(Met875Thr)uncertain significance03.11.2020MVZ Dortmund
NM_004035.6c.191T>Ap.(Val64Asp)uncertain significance03.11.2020MVZ Dortmund
ACTA1
ACTA1A
NM_001100.3c.492C>Ap.(Asn164Lys)uncertain significance03.11.2020MVZ Dortmund
NM_000024.5c.698T>Cp.(Ile233Thr)uncertain significance03.11.2020MVZ Dortmund
NM_014324.5c.43delp.(Ala15Profs*29)pathogenic03.11.2020MVZ Dortmund
AN2
PAX6
NM_000280.4c.601C>Tp.(Gln201*)pathogenic03.11.2020MVZ Dortmund
NM_005883.2c.4117G>Ap.(Val1373Ile)uncertain significance03.11.2020MVZ Dortmund
NM_000487.5c.311delp.(Leu104Argfs*4)pathogenic03.11.2020MVZ Dortmund
NM_015570.3c.2288G>Cp.(Gly763Ala)uncertain significance03.11.2020MVZ Dortmund
NM_015570.3c.2288G>Cp.(Gly763Ala)uncertain significance03.11.2020MVZ Dortmund
NM_024649.4c.1396G>Ap.(Ala466Thr)uncertain significance03.11.2020MVZ Dortmund
NM_152618.2c.1859A>Gp.(Gln620Arg) (p.(Q620R))uncertain significance03.11.2020MVZ Dortmund
NM_176824.2c.1382T>Cp.(Ile461Thr)uncertain significance03.11.2020MVZ Dortmund
NM_176824.3c.1511+19C>Auncertain significance03.11.2020MVZ Dortmund
BBS9
PTHB1
NM_198428.2c.1793G>Ap.(Arg598Gln)uncertain significance03.11.2020MVZ Dortmund