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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RSPH4A
Deletion
(splice donor variant)
not provided
+3 more
GPathogenic
RSPH4A
(V368G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 11
+1 more
GConflicting classifications of pathogenicity