U.S. flag

An official website of the United States government

Display optionsSort by LocationDownload
Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 362

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862863, LOC126862864
+536 more
Copy number gain
See cases
GLikely pathogenic
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
ACP5, ANGPTL8
+434 more
Copy number loss
See cases
GPathogenic
ANGPTL8, CCDC159
+52 more
Copy number gain
See cases
GUncertain significance
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ODAD3
Single nucleotide variant
not provided
GBenign
ODAD3
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
ODAD3
(R530H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ODAD3
(K528del +2 more)
Microsatellite
(inframe_deletion)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(V569L +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GBenign
ODAD3
(E505del +2 more)
Microsatellite
(inframe_deletion)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(E505K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ODAD3
(E510K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ODAD3
Single nucleotide variant
(intron variant)
not provided
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
Duplication
(intron variant)
Primary ciliary dyskinesia 30
GBenign
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
(F503C +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
+1 more
GUncertain significance
ODAD3
(D495G +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
(P489T +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(Y482C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ODAD3
(E536K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
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
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
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(A467S +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ODAD3
(L463P +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(Q466P +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
(D458N +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
(V449L +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
+1 more
GUncertain significance
ODAD3
(G501S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(P497R +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(L428P +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(E433Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(G427R +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
+1 more
GUncertain significance
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
(intron 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
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Deletion
(intron variant)
not provided
GBenign
ODAD3
(T417A +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(H468Y +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(R394H +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(K389R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ODAD3
(K389E +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
+1 more
GLikely benign
ODAD3
(A388T +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
(K439R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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
(A372T +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
+1 more
GUncertain significance
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
LOC130063574, ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
LOC130063574, ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GUncertain significance
LOC130063574, ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(S419* +2 more)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 30
GPathogenic
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(L362F +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
(E351del +2 more)
Deletion
(inframe_deletion)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(E351K +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)
not provided
+1 more
GBenign/Likely benign
ODAD3
(L399W +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ODAD3
(L339M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ODAD3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 30
GLikely benign
ODAD3
(E394K +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(S333N +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
(L331fs +2 more)
Duplication
(frameshift variant)
Kartagener syndrome
GPathogenic
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
(R317Q +2 more)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 30
GUncertain significance
ODAD3
(R316L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ODAD3
Single nucleotide variant
(splice acceptor variant)
Primary ciliary dyskinesia 30
GLikely pathogenic
ODAD3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 30
GLikely benign
Display optionsSort by LocationDownload
Format
Items per page
Sort by
Choose Destination