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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH1
(R425H)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+1 more
GUncertain significance
DNAH1
(R752*)
Single nucleotide variant
(nonsense)
Ciliary dyskinesia, primary, 37
GLikely pathogenic
DNAH1
(N998D)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 37
+1 more
GUncertain significance
DNAH1
Single nucleotide variant
(splice donor variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely pathogenic
DNAH1
(E1914K)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+2 more
GUncertain significance
DNAH1
(N2581S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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