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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MKKS
Deletion
(splice donor variant +1 more)
Bardet-Biedl syndrome 6
GPathogenic
MKKS
(K205*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 6
GPathogenic