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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS5
(G264V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 5
GUncertain significance
BBS5
(V300fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 5
GLikely pathogenic