Details for Combination OLI067

VARIANTS BBS2:c.72C>A, p.Tyr24Ter in Heterozygous form; BBS2:p.Gln59Ter in Heterozygous form; MKKS:c.442C>T, p.Gln148Ter in Heterozygous form
GENE COMBINATION BBS2; MKKS
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 615995; 615993; 209900; 615983; 615994; 615992; 615982; 605231; 615981; 615984; 615990; 615986; 615996; 615988; 615989; 615987; 617119; 600151; 615985; 615991; 617406
DISEASES Bardet-Biedl syndrome
REFERENCES 12677556; 11567139
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
11


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