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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS4
Deletion
(intron variant)
Bardet-Biedl syndrome 4
+1 more
GPathogenic
BBS4
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 4
+1 more
GPathogenic
BBS4
(R295P +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 4
+1 more
GPathogenic
BBS4
(A364E +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
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