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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS9
(Q19* +1 more)
Single nucleotide variant
(nonsense +3 more)
Bardet-Biedl syndrome
+2 more
GPathogenic
BBS9
(E258* +3 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 9
GPathogenic