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Items: 1 to 100 of 613

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGAP4, AGAP9
+1221 more
Copy number gain
See cases
GBenign
ABI1, ACBD5
+376 more
Copy number gain
See cases
GLikely pathogenic
ABI1, ACBD5
+101 more
Copy number loss
See cases
GPathogenic
ACBD5, ANKRD26
+90 more
Copy number loss
See cases
GPathogenic
LOC124403925, LOC126860890
+17 more
Copy number gain
See cases
GUncertain significance
BAMBI, C10orf126
+49 more
Copy number gain
See cases
GPathogenic
ODAD2
Deletion
(3 prime UTR variant)
not provided
GBenign
ODAD2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
LOC132089773, ODAD2
(T609I)
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 23
GLikely benign
LOC132089773, ODAD2
(A733T +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
LOC132089773, ODAD2
(A1041S +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GBenign
LOC132089773, ODAD2
(Q604P)
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 23
GLikely benign
LOC132089773, ODAD2
(Q604E +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
LOC132089773, ODAD2
(A1037V +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
LOC132089773, ODAD2
(L602S)
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
GLikely benign
LOC132089773, ODAD2
(G599V +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
LOC132089773, ODAD2
(A598T +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
+1 more
GUncertain significance
LOC132089773, ODAD2
(R1032C +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
GUncertain significance
LOC132089773, ODAD2
(S1029F +2 more)
Single nucleotide variant
(missense variant)
ODAD2-related condition
+3 more
GConflicting classifications of pathogenicity
LOC132089773, ODAD2
(G1026D +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC132089773, ODAD2
(L589P)
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 23
+1 more
GLikely benign
LOC132089773, ODAD2
(I585F +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
LOC132089773, ODAD2
(Q710R +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
LOC132089773, ODAD2
(P581T +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
LOC132089773, ODAD2
(D1011fs +2 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 23
+1 more
GConflicting classifications of pathogenicity
ODAD2
(W576*)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(F574Y)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Microsatellite
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Microsatellite
(intron variant)
ODAD2-related condition
GBenign
ODAD2
Microsatellite
(intron variant)
ODAD2-related condition
GBenign
ODAD2
Microsatellite
(intron variant)
ODAD2-related condition
GBenign
ODAD2
Single nucleotide variant
(intron variant)
not provided
GBenign
ODAD2
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Deletion
Primary ciliary dyskinesia 23
GLikely pathogenic
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(A1005T +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(G529D +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ODAD2
(H1001P +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(M525I +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ODAD2
(M1000R +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(N521D +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(D995N +2 more)
Single nucleotide variant
(missense variant)
ODAD2-related condition
+3 more
GBenign/Likely benign
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GBenign
ODAD2
(A519G +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ODAD2
(A994T +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
+1 more
GUncertain significance
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
+2 more
GBenign/Likely benign
ODAD2
(D685fs +2 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
+1 more
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(A674V +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(A507T +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ODAD2
(R506Q +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
+1 more
GUncertain significance
ODAD2
(R673L +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
+1 more
GUncertain significance
ODAD2
(R506W +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
+1 more
GUncertain significance
ODAD2
(V979M +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
+1 more
GConflicting classifications of pathogenicity
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
ODAD2
(N978S +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(N500D +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ODAD2
(N500H +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(R495H +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GUncertain significance
ODAD2
(R662C +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ODAD2
(R495S +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
+1 more
GUncertain significance
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(A966D +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
ODAD2
(H487Y +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ODAD2
(G960D +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
+1 more
GUncertain significance
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(C641fs +2 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 23
GPathogenic
ODAD2
(R473H +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ODAD2
(R473C +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(S947P +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(H941Q +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
+1 more
GUncertain significance
ODAD2
(N628fs +2 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 23
GPathogenic
ODAD2
(N935K +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GBenign
ODAD2
Single nucleotide variant
(splice acceptor variant)
Primary ciliary dyskinesia 23
GPathogenic/Likely pathogenic
ODAD2
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ODAD2
Single nucleotide variant
(intron variant)
not provided
GBenign
ODAD2
Single nucleotide variant
(intron variant)
not provided
GBenign
ODAD2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ODAD2
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(L927W +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GPathogenic/Likely pathogenic
ODAD2
(P450H +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ODAD2
(G447E +2 more)
Single nucleotide variant
(missense variant)
Male infertility
+1 more
GLikely pathogenic
ODAD2
(N606fs +2 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 23
GPathogenic
ODAD2
(D603Y +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(I597fs +2 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 23
GPathogenic
ODAD2
(S900G +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ODAD2
(S892* +2 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 23
GPathogenic
ODAD2
(N413S +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ODAD2
(V412A +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(V572I +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(R402H +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
+1 more
GUncertain significance
ODAD2
(G398E +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
GUncertain significance
ODAD2
(G398R +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
Display optionsSort by LocationDownload
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