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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS1, ZDHHC24
(M390R)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+6 more
GPathogenic/Likely pathogenic
ACER3, ACP2
+904 more
Deletion
Intellectual disability
GPathogenic