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Links from MedGen

Items: 1 to 100 of 257

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ODAD3
(Q178* +1 more)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia 30
GLikely pathogenic
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(R107L +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(A432G +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(R232* +2 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 30
GPathogenic
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(Q149fs +2 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 30
GPathogenic
ODAD3
(I247fs +2 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 30
GPathogenic
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(Q17*)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia 30
GPathogenic
ODAD3
(E351K +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(S196F +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(R40*)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia 30
GPathogenic
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(Y182* +1 more)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia 30
GPathogenic
ODAD3
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(S132G +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(T146M +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(E170K +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Duplication
(intron variant)
Primary ciliary dyskinesia 30
GBenign
ODAD3
(A45T)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(R158S +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(L362F +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(R317Q +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Microsatellite
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(S21A)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 30
+1 more
GUncertain significance
ODAD3
(H152Q +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(L106P +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(Y293H +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(L99R +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(E256del +2 more)
Microsatellite
(inframe_deletion)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(V146A +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(A8V)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(L313fs +2 more)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 30
GPathogenic
ODAD3
(E243G +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(E394K +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(Q466P +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(K303R +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(T417A +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(D309E +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(F503C +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(M301T +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(K528del +2 more)
Microsatellite
(inframe_deletion)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 30
GLikely pathogenic
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(R158C +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 30
GUncertain significance
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