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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH5
(R4084Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAH5
(R2255*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+2 more
GPathogenic/Likely pathogenic
DNAH5
(K1853*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 3
+1 more
GPathogenic
DNAH5
(R1805C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GConflicting classifications of pathogenicity
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