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Items: 1 to 100 of 591

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNAAF1
Single nucleotide variant
(5 prime UTR variant)
Primary ciliary dyskinesia 13
+1 more
GBenign
DNAAF1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
DNAAF1
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DNAAF1
(H2N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(P3S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(P5A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GConflicting classifications of pathogenicity
DNAAF1
(T10I)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(G11fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
DNAAF1
(G11A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(L16V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(D17Y)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(Q20*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
GPathogenic
DNAAF1
(P22L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(G23D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(E25Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(A28V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(H31Y)
Single nucleotide variant
(missense variant)
DNAAF1-related disorder
GUncertain significance
DNAAF1
(H31Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(G32R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(A34T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(R36P)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(G37E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(G38S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GBenign
DNAAF1
(G38A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(C39R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GConflicting classifications of pathogenicity
DNAAF1
(K40N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Deletion
(splice acceptor variant +1 more)
Primary ciliary dyskinesia 13
GPathogenic
DNAAF1
Deletion
Primary ciliary dyskinesia
GPathogenic
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 13
GUncertain significance
DNAAF1
(K47N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(E48G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(I49fs)
Microsatellite
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
DNAAF1
(C50R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(C50G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(C50Y)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+1 more
GUncertain significance
DNAAF1
(V51M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(G52S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(G52D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GConflicting classifications of pathogenicity
DNAAF1
(S53F)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(D55E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(Y58D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(S60T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(Q61E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+1 more
GConflicting classifications of pathogenicity
DNAAF1
(Q61H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(Q64*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
GPathogenic
DNAAF1
(Q64R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(Q64H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(S65N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(G66C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(G69fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
DNAAF1
(G72S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(H73L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(A75T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+1 more
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+3 more
GBenign/Likely benign
DNAAF1
(P77R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(G85V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAAF1
Duplication
(intron variant)
not provided
GBenign
DNAAF1
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DNAAF1
(K90N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(K95N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
DNAAF1
(K101N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
DNAAF1
(I104M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 13
+1 more
GUncertain significance
DNAAF1
(P106fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(P106A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
(N109K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(T111fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
DNAAF1
(T111K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
(T111M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
DNAAF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
DNAAF1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
DNAAF1
Duplication
(intron variant)
not provided
GBenign
DNAAF1
Duplication
(intron variant)
not provided
GBenign
DNAAF1
Deletion
(intron variant)
not provided
GBenign
DNAAF1
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAAF1
Single nucleotide variant
(intron variant)
not provided
GBenign
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