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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS10
(L308F)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(K243fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 10
+1 more
GPathogenic/Likely pathogenic