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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYNC2H1
(E3437K +1 more)
Single nucleotide variant
(missense variant)
Ciliopathy
GUncertain significance
CC2D1A
(R396*)
Single nucleotide variant
(nonsense)
Ciliopathy
GLikely pathogenic
CC2D1A
(Q422*)
Single nucleotide variant
(nonsense)
Ciliopathy
GLikely pathogenic
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