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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OFD1
(D181del +1 more)
Microsatellite
(inframe_deletion)
Joubert syndrome 10
+1 more
GLikely pathogenic
OFD1
(Y98fs +1 more)
Duplication
(frameshift variant)
Orofaciodigital syndrome I
+4 more
GPathogenic