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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
ANGPTL8, CCDC159
+52 more
Copy number gain
See cases
GUncertain significance
ODAD3
Single nucleotide variant
not provided
GBenign
ODAD3
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ODAD3
(G501S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ODAD3
Deletion
(intron variant)
not provided
GBenign
ODAD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ODAD3
Duplication
(intron variant)
not provided
GBenign
ODAD3
Single nucleotide variant
(intron variant)
not provided
GBenign
ODAD3
Single nucleotide variant
(intron variant)
not provided
GBenign
ODAD3
Deletion
(intron variant)
not provided
GBenign
ODAD3
Deletion
(intron variant)
not provided
GBenign
ODAD3
Deletion
(intron variant)
not provided
GLikely benign
ODAD3
(E296K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ODAD3
Single nucleotide variant
(intron variant)
not provided
GBenign
ODAD3
Single nucleotide variant
(intron variant)
not provided
GBenign
ODAD3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ODAD3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ODAD3
(T205I +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 30
+1 more
GBenign/Likely benign
ODAD3
Single nucleotide variant
(intron variant)
not provided
GBenign
ODAD3
Duplication
(intron variant)
not provided
GLikely benign
ODAD3
Duplication
(intron variant)
not provided
GLikely benign
ODAD3
(L142V +1 more)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 30
+1 more
GBenign/Likely benign
ODAD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
not provided
GBenign
ODAD3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
ODAD3
(R85Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ODAD3
(D84H +1 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
+1 more
GUncertain significance
ODAD3
Duplication
(intron variant)
not provided
GLikely benign
ODAD3
Deletion
(intron variant)
not provided
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
not provided
GBenign
ODAD3
Single nucleotide variant
(intron variant)
not provided
GBenign
ODAD3
Single nucleotide variant
(intron variant)
not provided
GBenign
ODAD3
Duplication
(intron variant)
not provided
GBenign
ODAD3
Duplication
(intron variant)
not provided
GBenign
ODAD3
Deletion
(intron variant)
not provided
GBenign
ODAD3
Deletion
(intron variant)
not provided
GLikely benign
ODAD3
(F58S)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 30
+2 more
GBenign
ODAD3
(T49P)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 30
+1 more
GBenign
ODAD3
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
ODAD3
Single nucleotide variant
(intron variant)
not provided
GBenign
ODAD3
Duplication
(intron variant)
not provided
GLikely benign
ODAD3, PRKCSH
(K10E)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 30
+1 more
GBenign
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