Details for Combination OLI1371

VARIANTS TMEM67:c.(406+1_407-1)_(*1_?)del, in Heterozygous form; KIF14:c.(1367+1_1368-1)_(4567+1_4568-1)del, in Heterozygous form
GENE COMBINATION KIF14; TMEM67
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 612284; 614209; 249000; 613885; 609345; 615397; 607361; 617562; 611561; 603194; 611134
DISEASES Meckel syndrome
REFERENCES 34821546
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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