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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RSPH3
(H377R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
RSPH3, TAGAP-AS1
(L15F)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 32
GUncertain significance