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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLXN
(E123* +1 more)
Single nucleotide variant
(nonsense +1 more)
Ciliary dyskinesia, primary, 53
GLikely pathogenic
CLXN
(R98* +1 more)
Single nucleotide variant
(nonsense +1 more)
Ciliary dyskinesia, primary, 53
GLikely pathogenic