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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH5
(P3606fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
DNAH5
(Q1450*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GPathogenic
DNAH5
(R577T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 3
+1 more
GConflicting classifications of pathogenicity
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