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Items: 1 to 100 of 400

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
LOC130065082, LOC130065083
+806 more
Copy number gain
See cases
GPathogenic
OSCAR, PEG3
+782 more
Copy number gain
See cases
GPathogenic
LOC130065034, LOC130065035
+761 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+647 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+547 more
Copy number gain
See cases
GPathogenic
SSC5D, SYT5
+553 more
Copy number gain
See cases
GPathogenic
TMC4, TMEM150B
+537 more
Copy number gain
See cases
GPathogenic
BRSK1, C19orf85
+196 more
Copy number gain
See cases
GUncertain significance
BRSK1, C19orf85
+194 more
Copy number gain
See cases
GLikely pathogenic
NAT14, NLRP11
+124 more
Copy number gain
See cases
GUncertain significance
DNAAF3, DNAAF3-AS1
+18 more
Duplication
Nemaline myopathy 5
+1 more
GUncertain significance
DNAAF3, DNAAF3-AS1
+1 more
Duplication
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(E405D +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(E459A +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(Q505E +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
(F400V +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(R453C +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3-AS1, DNAAF3
(A398T +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(A398P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3-AS1, DNAAF3
(A512P +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(G511R +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
(G384* +3 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 2
GUncertain significance
DNAAF3, DNAAF3-AS1
(A483T +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(E378K +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(R431S +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(R496W +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(G472R +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(F372fs +3 more)
Duplication
(frameshift variant)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
DNAAF3, DNAAF3-AS1
(Q366fs +3 more)
Duplication
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
DNAAF3, DNAAF3-AS1
(R466Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
(R365W +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAAF3, DNAAF3-AS1
(V364A +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(V485M +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(synonymous variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+6 more
GConflicting classifications of pathogenicity
DNAAF3, DNAAF3-AS1
Inversion
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(intron variant)
not provided
+7 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
(R460Q +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(R359W +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
(I354T +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
(N352K +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(G351E +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(G471R +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
(A449V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAAF3, DNAAF3-AS1
(A345fs +3 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
(M456I +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+6 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(intron variant)
not specified
GLikely benign
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
Deletion
(intron variant)
not provided
GBenign
DNAAF3, DNAAF3-AS1
Deletion
(intron variant)
not provided
GBenign
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+2 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
(A386G +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(R426* +3 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
GPathogenic
DNAAF3, DNAAF3-AS1
(G425S +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(N323K +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3-AS1, DNAAF3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
(C321Y +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GBenign
DNAAF3, DNAAF3-AS1
(H317Y +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(L370fs +3 more)
Microsatellite
(frameshift variant)
Primary ciliary dyskinesia
GPathogenic
DNAAF3, DNAAF3-AS1
(L316F +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(A434D +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(no sequence alteration)
Primary ciliary dyskinesia 2
+6 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
(P363L +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(V305F +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNAAF3, DNAAF3-AS1
(V426I +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
GLikely benign
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DNAAF3-AS1, DNAAF3
Single nucleotide variant
(synonymous variant)
not specified
GBenign
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+7 more
GBenign/Likely benign
DNAAF3, DNAAF3-AS1
(P419L +3 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
DNAAF3, DNAAF3-AS1
(A398T +2 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GLikely pathogenic
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(splice acceptor variant +1 more)
Primary ciliary dyskinesia
GConflicting classifications of pathogenicity
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAAF3, DNAAF3-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
DNAAF3, DNAAF3-AS1
Duplication
(intron variant)
not provided
GLikely benign
DNAAF3, DNAAF3-AS1
Deletion
(splice donor variant)
not provided
+1 more
GBenign
DNAAF3, DNAAF3-AS1
Microsatellite
(intron variant)
Primary ciliary dyskinesia
GLikely benign
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