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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS5
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 5
GUncertain significance
BBS5
(L142*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome
+1 more
GPathogenic