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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS7
(E596K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BBS7
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 7
GPathogenic