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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KATNIP
(S234G)
Single nucleotide variant
(missense variant)
Joubert syndrome 26
GUncertain significance
KATNIP
(R908C)
Single nucleotide variant
(missense variant)
Joubert syndrome 26
GUncertain significance
KATNIP
(S950L)
Single nucleotide variant
(missense variant)
Joubert syndrome 26
+2 more
GConflicting classifications of pathogenicity
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