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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH11
(F53fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
(K1515M +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+1 more
GUncertain significance
DNAH11
(R2044G +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11
(A2957G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DNAH11
(P3185fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 7
GLikely pathogenic
DNAH11
(K3996* +1 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 7
GLikely pathogenic
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