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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP41
(S275G +2 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 15
GUncertain significance
CEP41
(R226H +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 15
GUncertain significance
CEP41
(M36T)
Single nucleotide variant
(missense variant +2 more)
Joubert syndrome 15
+1 more
GUncertain significance
CEP41
(P10A)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 15
GUncertain significance
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