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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH11, LOC126859961
(Q1085*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GLikely pathogenic
DNAH11
(L4067R +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GUncertain significance
DNAH11
(I4303N +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
GUncertain significance
CDCA7L, DNAH11
(R4449fs)
Deletion
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia
+1 more
GLikely pathogenic
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