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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS7
(R238fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 7
+3 more
GPathogenic
BBS7, LOC129993036
Duplication
(inframe_insertion)
Bardet-Biedl syndrome 7
GUncertain significance