Details for Combination OLI1328

VARIANTS LRP1B:c.11227G>A, in Heterozygous form; LRP1B:c.1907G>A, in Heterozygous form; KDM6A:c.1402T>C, in Hemizygous form; H2BW2:c.368T>G, in Hemizygous form
GENE COMBINATION H2BW2; KDM6A; LRP1B
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Primary immunodeficiency
REFERENCES 36338958
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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