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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH5
(N4487*)
Duplication
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
DNAH5
(P3606fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 3
+2 more
GPathogenic
DNAH5
(R1761*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GPathogenic
DNAH5
(Q1317*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
GPathogenic
DNAH5
Deletion
Primary ciliary dyskinesia
GPathogenic
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