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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LZTFL1
(E243* +1 more)
Single nucleotide variant
(nonsense +2 more)
Bardet-Biedl syndrome 17
GPathogenic
LZTFL1
(L70P +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 17
GPathogenic
BBIP1
(L58* +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 18
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
BBS4
(I354T +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GBenign
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