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Items: 11

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
DNAH11
(C3408fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
DNAH11
(G4430R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely pathogenic
CDCA7L, DNAH11
(P4458L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 7
+1 more
GPathogenic/Likely pathogenic
DNAAF4, DNAAF4-CCPG1
Deletion
(intron variant)
Primary ciliary dyskinesia
GPathogenic
DNAAF4, DNAAF4-CCPG1
Deletion
(splice acceptor variant +1 more)
Primary ciliary dyskinesia
GPathogenic
DNAAF4, DNAAF4-CCPG1
(E286*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Primary ciliary dyskinesia
GPathogenic
DNAH5
Deletion
Primary ciliary dyskinesia
GPathogenic
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