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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZDHHC24, BBS1
(H339L)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS1, ZDHHC24
(R429fs)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome
GPathogenic