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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS5
(N184S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BBS5
(D195G)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+2 more
GConflicting classifications of pathogenicity
BBS5
(R207H)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+2 more
GBenign/Likely benign
BBS5
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
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