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Links from MedGen

Items: 1 to 100 of 418

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ODAD2
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 23
GLikely pathogenic
LOC126860891, 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
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(I517fs +2 more)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 23
GPathogenic
ODAD2
(Q106*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 23
GPathogenic
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 23
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
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 23
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
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
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
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(L260fs)
Microsatellite
(frameshift variant)
Primary ciliary dyskinesia 23
GPathogenic
ODAD2
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
LOC126860891, ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(R790* +2 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 23
GPathogenic
ODAD2
(C641fs +2 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 23
GPathogenic
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
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(T263fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 23
GPathogenic
ODAD2
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 23
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
(E83*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 23
GPathogenic
ODAD2
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 23
GLikely benign
LOC126860891, ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(S167* +1 more)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia 23
GPathogenic
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
LOC126860891, ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(A128T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(R331G +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
+1 more
GUncertain significance
ODAD2
(C390G +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(R109C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(S95C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(P254L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
ODAD2
(S370R +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
+1 more
GUncertain significance
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
(V84D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
LOC126860891, ODAD2
(S62fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 23
GPathogenic
ODAD2
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
LOC132089773, ODAD2
(T609I)
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(D425N +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(E230V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
ODAD2
(P23A +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(M1I +1 more)
Single nucleotide variant
(missense variant +2 more)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(K86E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(E27A +1 more)
Single nucleotide variant
(missense variant +1 more)
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
GLikely benign
ODAD2
(V605M +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(A260T +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(A674V +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(C390R +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(E27* +1 more)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia 23
GPathogenic
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(L119fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 23
GPathogenic
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(I262L)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(K372Q +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
+1 more
GLikely benign
ODAD2
(N628fs +2 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 23
GPathogenic
ODAD2
Microsatellite
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
(D125G +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(V710I +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
ODAD2
(C261fs)
Microsatellite
(frameshift variant)
Primary ciliary dyskinesia 23
GPathogenic
ODAD2
(E293K +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 23
GUncertain significance
LOC126860891, ODAD2
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 23
GLikely benign
ODAD2
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 23
GLikely benign
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