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Links from MedGen

Items: 82

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH9
(R1224H)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
GUncertain significance
DNAH9
Single nucleotide variant
(splice acceptor variant)
Ciliary dyskinesia, primary, 40
GLikely pathogenic
DNAH9
(S674fs)
Deletion
(frameshift variant)
Ciliary dyskinesia, primary, 40
GLikely pathogenic
DNAH9
(I4135T +1 more)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
GUncertain significance
DNAH9
(Q4440* +1 more)
Single nucleotide variant
(nonsense)
Ciliary dyskinesia, primary, 40
GUncertain significance
DNAH9, LOC101928350
(T3647S)
Single nucleotide variant
(missense variant +1 more)
Ciliary dyskinesia, primary, 40
GUncertain significance
DNAH9
(N328S +1 more)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
+1 more
GUncertain significance
DNAH9
(R620C)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
+1 more
GUncertain significance
DNAH9
(P1195S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAH9
(S1129I)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
GUncertain significance
DNAH9
(I3380T)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
GUncertain significance
DNAH9
(P4472fs +1 more)
Deletion
(frameshift variant)
Ciliary dyskinesia, primary, 40
GUncertain significance
DNAH9
(E2765fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DNAH9
(V2505M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAH9
(R84C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DNAH9
(I727T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAH9
(R2470Q)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
+1 more
GUncertain significance
DNAH9, LOC126862506
(R1640*)
Single nucleotide variant
(nonsense)
Ciliary dyskinesia, primary, 40
GLikely pathogenic
DNAH9
(Q1756*)
Single nucleotide variant
(nonsense)
Ciliary dyskinesia, primary, 40
GPathogenic
DNAH9
(S3737P +1 more)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
DNAH9-related disorder
+2 more
GBenign/Likely benign
DNAH9, LOC101928350
(T3618M)
Single nucleotide variant
(missense variant +1 more)
DNAH9-related disorder
+3 more
GConflicting classifications of pathogenicity
DNAH9
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 40
+1 more
GBenign/Likely benign
DNAH9
(G4214C +1 more)
Single nucleotide variant
(missense variant)
DNAH9-related disorder
+2 more
GConflicting classifications of pathogenicity
DNAH9
(M2087V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
DNAH9, LOC101928350
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
DNAH9
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 40
+1 more
GBenign/Likely benign
DNAH9, LOC101928350
Microsatellite
(intron variant)
DNAH9-related disorder
+2 more
GBenign/Likely benign
DNAH9
Single nucleotide variant
(synonymous variant)
DNAH9-related disorder
+2 more
GBenign/Likely benign
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
DNAH9
(K286M +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DNAH9
(A1795T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DNAH9
(A3680V)
Single nucleotide variant
(missense variant +1 more)
Ciliary dyskinesia, primary, 40
+2 more
GUncertain significance
DNAH9
(D2423N)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
+2 more
GUncertain significance
DNAH9
(E13D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DNAH9
(F103fs)
Deletion
(frameshift variant)
DNAH9-related disorder
+3 more
GConflicting classifications of pathogenicity
DNAH9
(R3068L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAH9, LOC101928350
(T3487R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAH9
(R2965C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNAH9
(W1198S)
Single nucleotide variant
(missense variant)
DNAH9-related disorder
+2 more
GUncertain significance
DNAH9
(G785D)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
+1 more
GUncertain significance
DNAH9
(A862S)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
+2 more
GUncertain significance
DNAH9
(A2153T)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
+1 more
GUncertain significance
DNAH9
(W2223*)
Single nucleotide variant
(nonsense)
Ciliary dyskinesia, primary, 40
GLikely pathogenic
DNAH9
(Y1593C)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
GUncertain significance
DNAH9
(T689M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DNAH9
Single nucleotide variant
(splice acceptor variant)
Ciliary dyskinesia, primary, 40
GLikely pathogenic
DNAH9
(R179* +1 more)
Single nucleotide variant
(nonsense)
Ciliary dyskinesia, primary, 40
GLikely pathogenic
DNAH9
(R2947*)
Single nucleotide variant
(nonsense)
Ciliary dyskinesia, primary, 40
GLikely pathogenic
DNAH9
(F254fs)
Deletion
(frameshift variant)
Ciliary dyskinesia, primary, 40
GPathogenic
DNAH9
(G2095R)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
+1 more
GUncertain significance
DNAH9
(R127Q +1 more)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
+1 more
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
DNAH9
Single nucleotide variant
(synonymous variant +1 more)
Ciliary dyskinesia, primary, 40
GBenign
DNAH9, LOC126862505
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 40
+1 more
GBenign
DNAH9
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 40
+1 more
GBenign
DNAH9, LOC101928350
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DNAH9
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
DNAH9
(Q445R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
DNAH9
(Q1412*)
Single nucleotide variant
(nonsense)
Ciliary dyskinesia, primary, 40
GPathogenic
DNAH9
(R2173Q)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
GUncertain significance
DNAH9
(R621* +1 more)
Single nucleotide variant
(nonsense)
Ciliary dyskinesia, primary, 40
GLikely pathogenic
DNAH9
Deletion
(intron variant)
Ciliary dyskinesia, primary, 40
GUncertain significance
DNAH9
Single nucleotide variant
(synonymous variant)
DNAH9-related disorder
+2 more
GBenign/Likely benign
DNAH9
(L3376fs)
Duplication
(frameshift variant)
Ciliary dyskinesia, primary, 40
GPathogenic
DNAH9
Single nucleotide variant
(splice acceptor variant)
Ciliary dyskinesia, primary, 40
GPathogenic
DNAH9
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DNAH9
(K1881E +1 more)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
GPathogenic
DNAH9
(Q2751*)
Single nucleotide variant
(nonsense)
Ciliary dyskinesia, primary, 40
GPathogenic
DNAH9
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
DNAH9
(R3398L)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
GPathogenic
DNAH9
(D4123N +1 more)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
GPathogenic
DNAH9
(L104fs)
Duplication
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DNAH9
(S3889* +1 more)
Single nucleotide variant
(nonsense)
Abnormal cardiovascular system morphology
+1 more
GUncertain significance
DNAH9, LOC101928350
Single nucleotide variant
(synonymous variant +1 more)
Ciliary dyskinesia, primary, 40
+2 more
GBenign
DNAH9
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 40
+2 more
GBenign
DNAH9
Single nucleotide variant
(synonymous variant)
DNAH9-related disorder
+3 more
GBenign/Likely benign
DNAH9
Single nucleotide variant
(intron variant)
Ciliary dyskinesia, primary, 40
+2 more
GBenign
DNAH9
(N2195S)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 40
+2 more
GBenign
DNAH9
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 40
+2 more
GBenign
DNAH9
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 40
+2 more
GBenign
DNAH9
Single nucleotide variant
(synonymous variant)
Ciliary dyskinesia, primary, 40
+2 more
GBenign
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