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Links from MedGen

Items: 1 to 100 of 427

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTSC
(G300D)
Single nucleotide variant
(missense variant)
Papillon-Lefèvre syndrome
GUncertain significance
CTSC
Single nucleotide variant
(intron variant)
Haim-Munk syndrome
+2 more
GLikely benign
CTSC
Single nucleotide variant
(intron variant)
Haim-Munk syndrome
+2 more
GLikely benign
CTSC
(G139R)
Single nucleotide variant
(missense variant)
Haim-Munk syndrome
+2 more
GPathogenic
CTSC
Single nucleotide variant
(synonymous variant)
Haim-Munk syndrome
+2 more
GLikely benign
CTSC
Single nucleotide variant
(intron variant)
Haim-Munk syndrome
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
(A417fs)
Deletion
(frameshift variant)
Periodontitis, aggressive 1
+2 more
GPathogenic
CTSC
Deletion
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Deletion
(frameshift variant)
Papillon-Lefèvre syndrome
+2 more
GPathogenic/Likely pathogenic
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Deletion
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
(D236fs)
Deletion
(frameshift variant)
Periodontitis, aggressive 1
+2 more
GPathogenic
CTSC
(Q286fs)
Deletion
(frameshift variant)
Periodontitis, aggressive 1
+2 more
GPathogenic
CTSC
(Y117*)
Single nucleotide variant
(nonsense)
Periodontitis, aggressive 1
+2 more
GPathogenic
CTSC
Deletion
(nonsense)
Periodontitis, aggressive 1
+2 more
GPathogenic
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
(Y310*)
Single nucleotide variant
(nonsense)
Periodontitis, aggressive 1
+2 more
GPathogenic
CTSC, LOC130006572
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
(W101*)
Single nucleotide variant
(nonsense)
Periodontitis, aggressive 1
+2 more
GPathogenic
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC, LOC130006572
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Deletion
(intron variant)
Periodontitis, aggressive 1
+2 more
GBenign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
(E401fs)
Deletion
(frameshift variant)
Periodontitis, aggressive 1
+2 more
GPathogenic
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Deletion
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
(Q160*)
Single nucleotide variant
(nonsense)
Periodontitis, aggressive 1
+2 more
GPathogenic
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
(Q293*)
Single nucleotide variant
(nonsense)
Periodontitis, aggressive 1
+2 more
GPathogenic
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(splice acceptor variant)
Periodontitis, aggressive 1
+2 more
GLikely pathogenic
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC, LOC130006572
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(splice donor variant)
Periodontitis, aggressive 1
+2 more
GLikely pathogenic
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
(L196fs)
Microsatellite
(frameshift variant)
Periodontitis, aggressive 1
+2 more
GPathogenic
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
LOC130006572, CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC, LOC130006572
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
(P59T)
Single nucleotide variant
(missense variant)
Periodontitis, aggressive 1
+2 more
GUncertain significance
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC, LOC130006572
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC, LOC130006572
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
(C136fs)
Deletion
(frameshift variant)
Periodontitis, aggressive 1
+2 more
GPathogenic
CTSC, LOC130006572
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
(E451Q)
Single nucleotide variant
(missense variant)
Periodontitis, aggressive 1
+2 more
GUncertain significance
CTSC
(F374fs)
Deletion
(frameshift variant)
Periodontitis, aggressive 1
+2 more
GPathogenic
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Deletion
(splice acceptor variant)
Periodontitis, aggressive 1
+2 more
GLikely pathogenic
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Duplication
(intron variant)
Periodontitis, aggressive 1
+2 more
GBenign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
(Y170*)
Duplication
(nonsense)
Periodontitis, aggressive 1
+2 more
GPathogenic
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(splice acceptor variant)
Periodontitis, aggressive 1
+2 more
GLikely pathogenic
CTSC, LOC130006572
Single nucleotide variant
(intron variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
CTSC
Single nucleotide variant
(synonymous variant)
Periodontitis, aggressive 1
+2 more
GLikely benign
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