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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH1
(T133A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAH1
(R159W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
DNAH1
(R506W)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+3 more
GUncertain significance
DNAH1
(A976T)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+3 more
GConflicting classifications of pathogenicity
DNAH1
(V1068M)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+2 more
GUncertain significance
DNAH1
(H2211R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DNAH1
(R2287H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
DNAH1
(G2383D)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 37
+2 more
GUncertain significance
DNAH1
(A2432P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DNAH1
(T2437N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAH1
(R2622Q)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+3 more
GUncertain significance
DNAH1
(L2859fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
DNAH1
(Y2978C)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+3 more
GUncertain significance
DNAH1
(R3115W)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+2 more
GConflicting classifications of pathogenicity
DNAH1
(R3272C)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+2 more
GUncertain significance
DNAH1
(E3433G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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