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Items: 2

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