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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS5, LOC129935068
(M1V)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 5
GPathogenic
BBS5
Deletion
Bardet-Biedl syndrome 5
GPathogenic