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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS1
(M1fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome
GPathogenic
BBS1, ZDHHC24
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GConflicting classifications of pathogenicity
BBS1, ZDHHC24
Single nucleotide variant
(splice acceptor variant +1 more)
Bardet-Biedl syndrome
+1 more
GConflicting classifications of pathogenicity
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