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Links from MedGen

Items: 1 to 100 of 1891

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH1
(W2022F)
Indel
(missense variant)
Spermatogenic failure 18
GUncertain significance
DNAH1
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GUncertain significance
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
(P1351L)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+1 more
GUncertain significance
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
(S1774C)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+1 more
GUncertain significance
DNAH1
(L4222V)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+1 more
GUncertain significance
DNAH1
(W2468fs)
Microsatellite
(frameshift variant)
Spermatogenic failure 18
+1 more
GPathogenic
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
(G3882R)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+1 more
GLikely pathogenic
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
(M1296I)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+1 more
GUncertain significance
DNAH1
Single nucleotide variant
(splice donor variant)
Spermatogenic failure 18
+1 more
GLikely pathogenic
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Microsatellite
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Deletion
(intron variant)
Spermatogenic failure 18
+1 more
GBenign
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
(K3795*)
Indel
(nonsense)
Spermatogenic failure 18
+1 more
GPathogenic
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(splice donor variant)
Spermatogenic failure 18
+1 more
GLikely pathogenic
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
(P3561L)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+1 more
GUncertain significance
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
(L266S)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+1 more
GUncertain significance
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Deletion
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
(K1062fs)
Duplication
(frameshift variant)
Spermatogenic failure 18
+1 more
GPathogenic
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GBenign
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
(L2579P)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+1 more
GUncertain significance
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(splice donor variant)
Spermatogenic failure 18
+1 more
GLikely pathogenic
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GUncertain significance
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
(T2236I)
Single nucleotide variant
(missense variant)
Spermatogenic failure 18
+1 more
GUncertain significance
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
DNAH1-related condition
+2 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
Deletion
(intron variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
(V2876L)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 37
+1 more
GUncertain significance
DNAH1
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
(F4170L)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 37
+1 more
GUncertain significance
DNAH1
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
(A681E)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 37
+1 more
GUncertain significance
DNAH1
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 37
+1 more
GLikely benign
DNAH1
(A2863fs)
Deletion
(frameshift variant)
Ciliary dyskinesia, primary, 37
+1 more
GPathogenic
DNAH1
(T4193I)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 37
+1 more
GUncertain significance
DNAH1
(L42I)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 37
+1 more
GUncertain significance
DNAH1
(F465del)
Deletion
(inframe_deletion)
Spermatogenic failure 18
+1 more
GUncertain significance
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
DNAH1
Single nucleotide variant
(intron variant)
Spermatogenic failure 18
+1 more
GLikely benign
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