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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS4
(K46R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BBS4
Deletion
(nonsense +1 more)
Retinitis pigmentosa
+2 more
GPathogenic/Likely pathogenic
BBS4
(E412D +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+3 more
GBenign/Likely benign
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