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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP41
(S337P +2 more)
Single nucleotide variant
(missense variant +1 more)
CEP41-related disorder
+2 more
GConflicting classifications of pathogenicity
CEP41
(C240G +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 15
+2 more
GBenign/Likely benign
CEP41
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CEP41
(A107G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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