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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH5
(Q2949E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
+2 more
GConflicting classifications of pathogenicity
DNAH5
(I1855fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia
+1 more
GPathogenic