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Links from MedGen

Items: 1 to 100 of 126

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTSK
(W50*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CTSK
(L4fs)
Deletion
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(K40fs)
Deletion
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(G194fs)
Deletion
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(N316fs)
Deletion
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
CTSK
Deletion
(splice donor variant)
Pyknodysostosis
GLikely pathogenic
CTSK
Microsatellite
(nonsense)
Pyknodysostosis
GLikely pathogenic
CTSK
(I57fs)
Microsatellite
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(V242fs)
Deletion
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(W26*)
Single nucleotide variant
(nonsense)
Pyknodysostosis
GLikely pathogenic
CTSK
(N213del)
Deletion
(inframe_deletion)
Pyknodysostosis
GUncertain significance
CTSK
(S246fs)
Microsatellite
(frameshift variant)
Pyknodysostosis
+1 more
GPathogenic
CTSK
(M211I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CTSK
(N273fs)
Deletion
(frameshift variant)
Pyknodysostosis
+1 more
GPathogenic/Likely pathogenic
CTSK
(Q133*)
Single nucleotide variant
(nonsense)
Pyknodysostosis
GLikely pathogenic
CTSK
(A238fs)
Indel
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(E43*)
Single nucleotide variant
(nonsense)
Pyknodysostosis
GLikely pathogenic
CTSK
(C139*)
Single nucleotide variant
(nonsense)
Pyknodysostosis
GLikely pathogenic
CTSK
(K233fs)
Microsatellite
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(E72*)
Single nucleotide variant
(nonsense)
Pyknodysostosis
GLikely pathogenic
CTSK
(K55*)
Single nucleotide variant
(nonsense)
Pyknodysostosis
GLikely pathogenic
CTSK
(E112*)
Single nucleotide variant
(nonsense)
Pyknodysostosis
GLikely pathogenic
CTSK
(Q206*)
Single nucleotide variant
(nonsense)
Pyknodysostosis
GLikely pathogenic
CTSK
(L159fs)
Insertion
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(K220*)
Single nucleotide variant
(nonsense)
Pyknodysostosis
+1 more
GPathogenic/Likely pathogenic
CTSK
(N231fs)
Deletion
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(N38fs)
Deletion
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(E51fs)
Duplication
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(W29fs)
Duplication
(frameshift variant)
Pyknodysostosis
GPathogenic
CTSK
(W298*)
Single nucleotide variant
(nonsense)
Pyknodysostosis
+1 more
GPathogenic
CTSK
(D272N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CTSK
(W50G)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GLikely pathogenic
CTSK
Single nucleotide variant
(splice donor variant)
Pyknodysostosis
GPathogenic
CTSK
Single nucleotide variant
(splice donor variant)
Pyknodysostosis
GPathogenic
CTSK
(I249N)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GLikely pathogenic
CTSK
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
(R122*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
CTSK
(W140*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
CTSK
(A64fs)
Deletion
(frameshift variant)
Pyknodysostosis
+1 more
GPathogenic/Likely pathogenic
CTSK
(G3E)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(synonymous variant)
Pyknodysostosis
GUncertain significance
CTSK
(H276R)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GLikely pathogenic
CTSK
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
CTSK
Single nucleotide variant
(intron variant)
Pyknodysostosis
GUncertain significance
CTSK
(W2*)
Single nucleotide variant
(nonsense)
Pyknodysostosis
GPathogenic
CTSK
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CTSK
(Q135fs)
Deletion
(frameshift variant)
Pyknodysostosis
GPathogenic
CTSK
(K295T)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GUncertain significance
CTSK
(S144fs)
Microsatellite
(frameshift variant)
Pyknodysostosis
GPathogenic
CTSK
(G303R)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GPathogenic
CTSK
(F186L)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(K153fs)
Deletion
(frameshift variant)
Pyknodysostosis
GPathogenic
CTSK
(T183P)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(I249T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CTSK
(N53fs)
Duplication
(frameshift variant)
Pyknodysostosis
+1 more
GPathogenic
CTSK
Single nucleotide variant
Pyknodysostosis
GUncertain significance
CTSK
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CTSK
(E229K)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GUncertain significance
CTSK
Single nucleotide variant
(3 prime UTR variant)
Pyknodysostosis
GUncertain significance
CTSK
Single nucleotide variant
(3 prime UTR variant)
Pyknodysostosis
GUncertain significance
CTSK
Single nucleotide variant
(3 prime UTR variant)
Pyknodysostosis
GUncertain significance
CTSK
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
CTSK
(H276Y)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GLikely pathogenic
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GBenign
CTSK
(D272E)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CTSK
(W302*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CTSK
(V168A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSK
(C318Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CTSK
Single nucleotide variant
(splice acceptor variant)
Pyknodysostosis
GPathogenic
CTSK
Single nucleotide variant
(splice donor variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(H276fs)
Deletion
(frameshift variant)
Pyknodysostosis
+1 more
GLikely pathogenic
CTSK
(D250G)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GUncertain significance
CTSK
(R122Q)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GUncertain significance
CTSK
Duplication
(splice acceptor variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(L9del)
Microsatellite
(inframe_deletion)
Pyknodysostosis
GUncertain significance
CTSK
(Q88P)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CTSK
(R46W)
Single nucleotide variant
(missense variant)
Pyknodysostosis
+1 more
GPathogenic/Likely pathogenic
CTSK
(N39del)
Microsatellite
(inframe_deletion)
Pyknodysostosis
GUncertain significance
CTSK
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CTSK
(W292*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
CTSK
Single nucleotide variant
(splice donor variant)
Pyknodysostosis
GLikely pathogenic
CTSK
Single nucleotide variant
(splice donor variant)
Pyknodysostosis
+1 more
GLikely pathogenic
CTSK
(N192fs)
Indel
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
CTSK
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
CTSK
(Y224fs)
Deletion
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(R193W)
Single nucleotide variant
(missense variant)
Pyknodysostosis
+1 more
GUncertain significance
CTSK
(R193Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CTSK
(L97fs)
Deletion
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
CTSK
Single nucleotide variant
(splice donor variant)
Pyknodysostosis
GLikely pathogenic
CTSK
Single nucleotide variant
(splice donor variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(R312*)
Single nucleotide variant
(nonsense)
Pyknodysostosis
+1 more
GPathogenic/Likely pathogenic
CTSK
(L9P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
CTSK
(Q190*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
CTSK
(M1I)
Single nucleotide variant
(missense variant +1 more)
Pyknodysostosis
GLikely pathogenic
CTSK
(R312G)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(K217fs)
Deletion
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
CTSK
Deletion
(splice donor variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(Y17fs)
Deletion
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
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