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Items: 1 to 100 of 310

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAH11
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
DNAH11
(T18I)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
DNAH11
(R20S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GConflicting classifications of pathogenicity
DNAH11
(E34L)
Indel
(missense variant)
not specified
+2 more
GBenign
DNAH11
(V59M)
Single nucleotide variant
(missense variant)
DNAH11-related disorder
+1 more
GConflicting classifications of pathogenicity
DNAH11
(G63A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GBenign
DNAH11
Single nucleotide variant
(synonymous variant)
DNAH11-related disorder
+1 more
GBenign/Likely benign
DNAH11
Single nucleotide variant
(synonymous variant)
DNAH11-related disorder
GLikely benign
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
DNAH11
(C101S)
Single nucleotide variant
(missense variant)
DNAH11-related disorder
+1 more
GConflicting classifications of pathogenicity
DNAH11
(D141Y)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+3 more
GBenign/Likely benign
DNAH11
Single nucleotide variant
(synonymous variant)
DNAH11-related disorder
GLikely benign
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GBenign
DNAH11
(I192M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
DNAH11
(I214V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+3 more
GConflicting classifications of pathogenicity
DNAH11
(M221L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 7
+2 more
GBenign/Likely benign
DNAH11
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
DNAH11
(R265H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAH11
(M282I)
Single nucleotide variant
(missense variant)
DNAH11-related disorder
+1 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
DNAH11
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 7
+2 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
DNAH11
(T400I)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GBenign/Likely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+3 more
GConflicting classifications of pathogenicity
DNAH11
(M512K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
DNAH11
(A568T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
DNAH11
(P629S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GBenign/Likely benign
DNAH11
(Q639R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+3 more
GBenign/Likely benign
DNAH11
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
DNAH11
(S654C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
DNAH11
Single nucleotide variant
(intron variant)
not specified
GLikely benign
DNAH11
Single nucleotide variant
(splice acceptor variant)
DNAH11-related disorder
GPathogenic
DNAH11
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
DNAH11
(E794K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(synonymous variant)
DNAH11-related disorder
+2 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
DNAH11
(D928V)
Single nucleotide variant
(missense variant)
DNAH11-related disorder
+2 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
DNAH11, LOC126859961
(E1015D)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
DNAH11, LOC126859961
(V1023A)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
DNAH11, LOC126859961
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
DNAH11, LOC126859961
(T1038A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+3 more
GBenign
DNAH11, LOC126859961
(E1047K)
Single nucleotide variant
(missense variant)
DNAH11-related disorder
+2 more
GConflicting classifications of pathogenicity
DNAH11, LOC126859961
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DNAH11, LOC126859961
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
DNAH11, LOC126859961
(I1088V)
Single nucleotide variant
(missense variant)
DNAH11-related disorder
GUncertain significance
DNAH11, LOC126859961
(S1097R)
Single nucleotide variant
(missense variant)
DNAH11-related disorder
+1 more
GLikely benign
DNAH11, LOC126859961
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+2 more
GConflicting classifications of pathogenicity
DNAH11, LOC126859961
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
DNAH11
(G1156R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GConflicting classifications of pathogenicity
DNAH11
(R1182*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+2 more
GPathogenic
DNAH11
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
DNAH11
(Y1212H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GBenign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
DNAH11
Single nucleotide variant
(synonymous variant)
DNAH11-related disorder
+1 more
GLikely benign
DNAH11
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(intron variant)
not specified
GLikely benign
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 7
+3 more
GConflicting classifications of pathogenicity
DNAH11
(M1316V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
DNAH11
(I1323T)
Single nucleotide variant
(missense variant)
DNAH11-related disorder
GUncertain significance
DNAH11
(I1334T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 7
+3 more
GConflicting classifications of pathogenicity
DNAH11
(W1348*)
Single nucleotide variant
(nonsense)
DNAH11-related disorder
+1 more
GPathogenic/Likely pathogenic
DNAH11
Single nucleotide variant
(intron variant)
DNAH11-related disorder
+1 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
DNAH11
(Q1401R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
DNAH11
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
DNAH11
Deletion
(intron variant)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
DNAH11
(T1428A)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
DNAH11
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
DNAH11
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
DNAH11
Insertion
(intron variant)
not specified
+2 more
GBenign/Likely benign
DNAH11
(S1465fs)
Microsatellite
(frameshift variant)
Primary ciliary dyskinesia
+3 more
GPathogenic/Likely pathogenic
DNAH11
(V1477A)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
DNAH11
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
DNAH11
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
DNAH11
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
DNAH11
(S1488F)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
DNAH11
Single nucleotide variant
(synonymous variant)
not specified
GBenign
DNAH11
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
DNAH11
(I1533S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DNAH11
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
DNAH11
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
DNAH11
(R1627P +1 more)
Single nucleotide variant
(missense variant)
DNAH11-related disorder
GUncertain significance
DNAH11
(D1635G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
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