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Links from MedGen

Items: 1 to 100 of 207

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC40
(Q826*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 15
GLikely pathogenic
CCDC40
(L366V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
Insertion
(inframe_insertion +1 more)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(P556H)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 15
+1 more
GLikely benign
CCDC40
Deletion
(splice acceptor variant +1 more)
Primary ciliary dyskinesia 15
GPathogenic
CCDC40
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 15
GPathogenic
CCDC40
(E1035K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(V156I)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(G199R)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(V279fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 15
GLikely pathogenic
CCDC40
(E428fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 15
GPathogenic
CCDC40
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC40
(S267fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 15
GPathogenic
CCDC40
(K918fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
CCDC40
(E1032*)
Duplication
(nonsense)
Primary ciliary dyskinesia 15
GLikely pathogenic
CCDC40
(E753fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 15
GLikely pathogenic
CCDC40
(M1I)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(R321Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC40
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC40
(M808T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC40
(R1059*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia 15
+1 more
GPathogenic/Likely pathogenic
CCDC40
(K507M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GConflicting classifications of pathogenicity
CCDC40
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CCDC40
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CCDC40
(D410N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC40
(A561V)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(Q171K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(L1062V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC40
(D486N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
+1 more
GUncertain significance
CCDC40
(R980*)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(Q992fs)
Duplication
(frameshift variant +1 more)
Primary ciliary dyskinesia 15
GLikely pathogenic
CCDC40
(E959*)
Single nucleotide variant
(nonsense +1 more)
Primary ciliary dyskinesia 15
GLikely pathogenic
CCDC40
(T100fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia 15
GLikely pathogenic
CCDC40
(E603K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(G962W)
Single nucleotide variant
(missense variant +1 more)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(R979H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 15
+1 more
GConflicting classifications of pathogenicity
CCDC40
(R633Q)
Single nucleotide variant
(missense variant)
Usher syndrome
+2 more
GConflicting classifications of pathogenicity
CCDC40
(H352Y)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(Y332H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC40
(R10G)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40, GAA
Single nucleotide variant
(5 prime UTR variant +2 more)
Glycogen storage disease, type II
+2 more
GLikely benign
CCDC40
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC40
(R870H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC40, GAA
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 15
+1 more
GUncertain significance
CCDC40
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(R1088H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40, GAA
(R1071H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
+2 more
GUncertain significance
CCDC40
(V1066M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
+1 more
GUncertain significance
CCDC40
(M833V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
+1 more
GConflicting classifications of pathogenicity
CCDC40
(R205Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC40
(R203H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC40
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia 15
+1 more
GConflicting classifications of pathogenicity
CCDC40
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 15
+1 more
GConflicting classifications of pathogenicity
CCDC40
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(D680H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(R384C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
+1 more
GUncertain significance
CCDC40
(Y97C)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
+1 more
GUncertain significance
CCDC40
(R370H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC40
(E255Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC40
(E254K)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
+1 more
GUncertain significance
CCDC40
(K970fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GBenign/Likely benign
CCDC40
(L401V)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC40
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GLikely benign
CCDC40
Single nucleotide variant
(synonymous variant)
CCDC40-related condition
+2 more
GLikely benign
CCDC40
(E743D)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC40
(I1002fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia
+1 more
GPathogenic
CCDC40
(R472W)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC40
Duplication
(splice donor variant)
Primary ciliary dyskinesia 15
+1 more
GUncertain significance
CCDC40
(T574N)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
+1 more
GUncertain significance
CCDC40
(D510E)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC40
(R1000Q)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC40
(R862W)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GUncertain significance
CCDC40
(T628M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+2 more
GUncertain significance
CCDC40
(E1096fs)
Duplication
(frameshift variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
(D233N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CCDC40
(K438*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+2 more
GConflicting classifications of pathogenicity
CCDC40
(F1044fs)
Deletion
(frameshift variant)
Primary ciliary dyskinesia
+1 more
GPathogenic
CCDC40
(Q142*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GPathogenic/Likely pathogenic
CCDC40
(A369T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC40
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC40
(R493S)
Single nucleotide variant
(missense variant)
CCDC40-related condition
+2 more
GConflicting classifications of pathogenicity
CCDC40
(R1059Q)
Single nucleotide variant
(missense variant)
CCDC40-related condition
+2 more
GUncertain significance
CCDC40
(R999H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
+1 more
GUncertain significance
CCDC40
(G48S)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
+1 more
GUncertain significance
CCDC40
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC40
(A458T)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia
+1 more
GBenign/Likely benign
CCDC40
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+1 more
GConflicting classifications of pathogenicity
CCDC40
(N396I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CCDC40
(E426*)
Single nucleotide variant
(nonsense)
Primary ciliary dyskinesia
+1 more
GPathogenic
CCDC40
Single nucleotide variant
(splice acceptor variant)
CCDC40-related condition
+3 more
GPathogenic/Likely pathogenic
CCDC40
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40, GAA
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia 15
+2 more
GBenign/Likely benign
CCDC40
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia 15
GLikely benign
CCDC40
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia 15
GUncertain significance
CCDC40
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia 15
+1 more
GUncertain significance
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