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Links from MedGen

Items: 1 to 100 of 150

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC39
(I484fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 14
GLikely pathogenic
CCDC39
(Q226*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 14
GLikely pathogenic
CCDC39
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 14
+1 more
GLikely pathogenic
CCDC39
(L328P)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 14
GPathogenic
CCDC39
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia 14
GLikely pathogenic
CCDC39
(R250K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39
Single nucleotide variant
(splice donor variant)
Primary ciliary dyskinesia
+1 more
GPathogenic
CCDC39
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 14
+1 more
GUncertain significance
CCDC39
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 14
+1 more
GConflicting classifications of pathogenicity
CCDC39
(E486fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 14
GPathogenic
CCDC39
(A688fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 14
GPathogenic
CCDC39
Single nucleotide variant
(splice acceptor variant)
Primary ciliary dyskinesia 14
+1 more
GPathogenic/Likely pathogenic
CCDC39
(E655fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
CCDC39, TTC14
(Q779*)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
CCDC39
(H300R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39
(E657K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 14
+1 more
GConflicting classifications of pathogenicity
CCDC39
(C680fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia
+1 more
GPathogenic
CCDC39
(L261*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 14
GLikely pathogenic
CCDC39
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 14
GLikely pathogenic
CCDC39, TTC14
(K836fs)
Deletion
(frameshift variant +1 more)
Primary ciliary dyskinesia
+1 more
GPathogenic
CCDC39
(A142V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39, TTC14
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 14
GUncertain significance
TTC14, CCDC39
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39
(E184A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 14
+1 more
GUncertain significance
CCDC39
(V701M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39
(P718S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39, TTC14
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 14
+2 more
GConflicting classifications of pathogenicity
CCDC39, TTC14
(I764T)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 14
+1 more
GUncertain significance
CCDC39, TTC14
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39, TTC14
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39, TTC14
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39, TTC14
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39, TTC14
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 14
+2 more
GConflicting classifications of pathogenicity
CCDC39, TTC14
(S786I)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39, TTC14
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 14
+1 more
GConflicting classifications of pathogenicity
CCDC39, TTC14
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia 14
+1 more
GConflicting classifications of pathogenicity
CCDC39, TTC14
(T850S)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 14
+1 more
GConflicting classifications of pathogenicity
CCDC39, TTC14
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39, TTC14
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39, TTC14
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 14
GBenign
CCDC39, TTC14
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39
(S429P)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39
Deletion
(splice acceptor variant +1 more)
Primary ciliary dyskinesia 14
GPathogenic
CCDC39
(K415fs)
Indel
(frameshift variant)
Primary ciliary dyskinesia 14
GPathogenic
CCDC39
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 14
+1 more
GUncertain significance
CCDC39, TTC14
(S786fs)
Deletion
(frameshift variant +1 more)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
CCDC39
(M1T)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC39
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC39
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 14
+2 more
GConflicting classifications of pathogenicity
CCDC39
(P652S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 14
+2 more
GConflicting classifications of pathogenicity
CCDC39, TTC14
(R829C)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 14
+1 more
GUncertain significance
CCDC39
(T349fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia
+1 more
GPathogenic
CCDC39, TTC14
(S786fs)
Deletion
(frameshift variant +1 more)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39
(R46H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC39
(Q91R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC39, TTC14
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
+2 more
GConflicting classifications of pathogenicity
CCDC39
(E23del)
Microsatellite
(inframe_deletion)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC39
Deletion
(splice acceptor variant)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
CCDC39
(R103W)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC39
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC39, TTC14
(T872K)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CCDC39, TTC14
(R853H)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC39, TTC14
(Q833fs)
Deletion
(frameshift variant +1 more)
Primary ciliary dyskinesia
+1 more
GPathogenic
CCDC39
(R599*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GConflicting classifications of pathogenicity
CCDC39
(R463W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CCDC39
(Y742*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
CCDC39
(R629C)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CCDC39
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CCDC39
Single nucleotide variant
(5 prime UTR variant)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC39
(E23A)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC39
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC39
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC39
(R214C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC39
(G274E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC39
(R288H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC39
(R294G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+3 more
GConflicting classifications of pathogenicity
CCDC39
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC39
(M368V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC39
(G400C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GConflicting classifications of pathogenicity
CCDC39
(S453R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC39
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 14
+1 more
GConflicting classifications of pathogenicity
CCDC39
Deletion
(intron variant)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
CCDC39
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC39
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC39
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC39
(G654R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC39
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 14
+1 more
GConflicting classifications of pathogenicity
CCDC39, TTC14
(R876C)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 14
+1 more
GUncertain significance
CCDC39, TTC14
Single nucleotide variant
(synonymous variant +1 more)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
TTC14, CCDC39
(V934I)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39, TTC14
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
CCDC39, TTC14
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39, TTC14
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 14
GUncertain significance
TTC14, CCDC39
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39, TTC14
Single nucleotide variant
(intron variant +1 more)
Primary ciliary dyskinesia 14
GUncertain significance
CCDC39, TTC14
Single nucleotide variant
(3 prime UTR variant +1 more)
Primary ciliary dyskinesia 14
GLikely benign
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