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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP41
Insertion
(nonsense +1 more)
not provided
GUncertain significance
CEP41
(E317fs)
Microsatellite
(frameshift variant +2 more)
Joubert syndrome 15
GUncertain significance
CEP41
(Y50H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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