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Links from MedGen

Items: 1 to 100 of 340

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTNS
Duplication
(splice donor variant +1 more)
Nephropathic cystinosis
GLikely pathogenic
CTNS
Single nucleotide variant
(splice acceptor variant)
Nephropathic cystinosis
GLikely pathogenic
CTNS, CTNS-AS1
(W150* +1 more)
Single nucleotide variant
(nonsense)
Nephropathic cystinosis
GPathogenic
CTNS, CTNS-AS1
(F15fs +1 more)
Deletion
(frameshift variant)
Nephropathic cystinosis
GLikely pathogenic
CTNS, CTNS-AS1
(V77fs)
Deletion
(frameshift variant +1 more)
Nephropathic cystinosis
GLikely pathogenic
CTNS
Single nucleotide variant
(splice donor variant +1 more)
Nephropathic cystinosis
GLikely pathogenic
SLC66A1
Deletion
(splice donor variant)
Nephropathic cystinosis
GUncertain significance
CTNS, CTNS-AS1
Single nucleotide variant
(splice acceptor variant)
Nephropathic cystinosis
GLikely pathogenic
CTNS, CTNS-AS1
(Y173H +1 more)
Single nucleotide variant
(missense variant)
Ocular cystinosis
+3 more
GLikely pathogenic
CTNS
(Q205* +1 more)
Single nucleotide variant
(nonsense)
Nephropathic cystinosis
GPathogenic
CTNS
(Q319* +1 more)
Single nucleotide variant
(nonsense)
Nephropathic cystinosis
GLikely pathogenic
CTNS, CTNS-AS1
Single nucleotide variant
(splice acceptor variant)
Nephropathic cystinosis
GLikely pathogenic
CTNS, CTNS-AS1
(T216fs +1 more)
Insertion
(frameshift variant)
Nephropathic cystinosis
+3 more
GPathogenic/Likely pathogenic
CTNS
(W5*)
Single nucleotide variant
(nonsense +2 more)
Ocular cystinosis
+3 more
GPathogenic
CTNS, CTNS-AS1
Deletion
(frameshift variant)
Nephropathic cystinosis
GLikely pathogenic
CTNS, CTNS-AS1
Single nucleotide variant
(splice acceptor variant)
Nephropathic cystinosis
GLikely pathogenic
CTNS
(I125fs +1 more)
Indel
(frameshift variant)
Nephropathic cystinosis
GLikely pathogenic
CTNS
(N141K +1 more)
Single nucleotide variant
(missense variant)
Nephropathic cystinosis
GLikely pathogenic
CTNS, CTNS-AS1
(W182* +1 more)
Single nucleotide variant
(nonsense)
Nephropathic cystinosis
GLikely pathogenic
CTNS
Deletion
(nonsense)
Nephropathic cystinosis
GLikely pathogenic
CTNS, CTNS-AS1
(H105fs)
Deletion
(frameshift variant +1 more)
Nephropathic cystinosis
+3 more
GPathogenic
CTNS
Deletion
(splice donor variant +1 more)
Nephropathic cystinosis
GLikely pathogenic
CTNS
(W179* +1 more)
Single nucleotide variant
(nonsense)
Nephropathic cystinosis
GLikely pathogenic
CTNS
(S146fs +1 more)
Duplication
(frameshift variant)
Nephropathic cystinosis
GLikely pathogenic
CTNS
Duplication
(splice acceptor variant)
Nephropathic cystinosis
GLikely pathogenic
CTNS, CTNS-AS1
(N177S +1 more)
Single nucleotide variant
(missense variant)
Nephropathic cystinosis
GLikely pathogenic
CTNS, CTNS-AS1
(W132*)
Single nucleotide variant
(nonsense +1 more)
Nephropathic cystinosis
GLikely pathogenic
CTNS
Single nucleotide variant
(intron variant)
Nephropathic cystinosis
+3 more
GPathogenic/Likely pathogenic
CTNS
(N41fs)
Duplication
(frameshift variant +2 more)
Nephropathic cystinosis
GLikely pathogenic
CTNS
(F159I +1 more)
Single nucleotide variant
(missense variant)
Nephropathic cystinosis
GUncertain significance
CTNS
Deletion
(inframe_deletion)
Ocular cystinosis
+3 more
GConflicting classifications of pathogenicity
CTNS
(F202V +1 more)
Single nucleotide variant
(missense variant)
Nephropathic cystinosis
+3 more
GConflicting classifications of pathogenicity
CTNS, CTNS-AS1
(P79fs)
Deletion
(frameshift variant +1 more)
Nephropathic cystinosis
+2 more
GLikely pathogenic
CTNS, CTNS-AS1
(C224* +1 more)
Single nucleotide variant
(nonsense)
Nephropathic cystinosis
+2 more
GLikely pathogenic
CTNS, CTNS-AS1
(Q96*)
Single nucleotide variant
(nonsense +1 more)
Ocular cystinosis
+3 more
GPathogenic/Likely pathogenic
CTNS
(T104fs +1 more)
Deletion
(frameshift variant)
Ocular cystinosis
+3 more
GPathogenic
CTNS
Single nucleotide variant
(splice donor variant +1 more)
Nephropathic cystinosis
GLikely pathogenic
CTNS, CTNS-AS1
(Q189* +1 more)
Single nucleotide variant
(nonsense)
Nephropathic cystinosis
+4 more
GPathogenic/Likely pathogenic
CTNS
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+3 more
GLikely benign
CTNS, CTNS-AS1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+3 more
GLikely benign
CTNS
Single nucleotide variant
(intron variant)
Ocular cystinosis
+3 more
GLikely benign
CTNS
Single nucleotide variant
(intron variant)
Ocular cystinosis
+3 more
GLikely benign
CTNS, CTNS-AS1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+3 more
GLikely benign
CTNS, CTNS-AS1
Single nucleotide variant
(synonymous variant)
Nephropathic cystinosis
+2 more
GLikely benign
CTNS
Single nucleotide variant
(splice donor variant +1 more)
Ocular cystinosis
+3 more
GLikely pathogenic
CTNS, CTNS-AS1
(Q231K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CTNS
(S234fs +1 more)
Microsatellite
(frameshift variant)
Nephropathic cystinosis
+3 more
GPathogenic
CTNS-AS1, CTNS
(R228C +1 more)
Single nucleotide variant
(missense variant)
Ocular cystinosis
+3 more
GUncertain significance
CTNS
(V86M +1 more)
Single nucleotide variant
(missense variant)
Ocular cystinosis
+3 more
GConflicting classifications of pathogenicity
CTNS, CTNS-AS1
(R81L +1 more)
Single nucleotide variant
(missense variant)
Nephropathic cystinosis
+2 more
GUncertain significance
CTNS
(R47Q)
Single nucleotide variant
(missense variant +2 more)
Ocular cystinosis
+3 more
GUncertain significance
CTNS
(K133T +1 more)
Single nucleotide variant
(missense variant)
Nephropathic cystinosis
GUncertain significance
CTNS
(F207L +1 more)
Single nucleotide variant
(missense variant)
Nephropathic cystinosis
GUncertain significance
CTNS
(R63C)
Single nucleotide variant
(missense variant +2 more)
Nephropathic cystinosis
+3 more
GUncertain significance
CTNS
(T114R +1 more)
Single nucleotide variant
(missense variant)
Nephropathic cystinosis
GUncertain significance
CTNS
(A366V)
Single nucleotide variant
(missense variant +1 more)
Nephropathic cystinosis
GUncertain significance
CTNS
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CTNS, CTNS-AS1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CTNS
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CTNS
Copy number loss
Nephropathic cystinosis
+2 more
GPathogenic
CTNS
Single nucleotide variant
Ocular cystinosis
+3 more
GBenign
CTNS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GLikely benign
CTNS
Single nucleotide variant
(synonymous variant)
Nephropathic cystinosis
+3 more
GLikely benign
CTNS
Single nucleotide variant
(synonymous variant)
Ocular cystinosis
+3 more
GLikely benign
CTNS
(E21*)
Single nucleotide variant
(nonsense +2 more)
Ocular cystinosis
+3 more
GPathogenic/Likely pathogenic
CTNS
(K133R +1 more)
Single nucleotide variant
(missense variant)
Cystinosis
+4 more
GPathogenic/Likely pathogenic
CTNS, CTNS-AS1
Deletion
(intron variant)
Nephropathic cystinosis
GPathogenic
CTNS, CTNS-AS1
(Q88K)
Single nucleotide variant
(missense variant +1 more)
Ocular cystinosis
+2 more
GUncertain significance
CTNS
Single nucleotide variant
(splice acceptor variant)
Nephropathic cystinosis
GLikely pathogenic
CTNS
(F203del +1 more)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+3 more
GUncertain significance
CTNS, CTNS-AS1
(A212T +1 more)
Single nucleotide variant
(missense variant)
Ocular cystinosis
+3 more
GConflicting classifications of pathogenicity
CTNS
Single nucleotide variant
(intron variant)
Ocular cystinosis
+2 more
GUncertain significance
CTNS, CTNS-AS1
(Y134*)
Single nucleotide variant
(nonsense +1 more)
Ocular cystinosis
+2 more
GLikely pathogenic
CTNS, CTNS-AS1
(Y100*)
Single nucleotide variant
(nonsense +1 more)
Ocular cystinosis
+3 more
GPathogenic/Likely pathogenic
CTNS, CTNS-AS1
Single nucleotide variant
(splice donor variant)
Cystinosis
+4 more
GPathogenic
CTNS
Single nucleotide variant
(splice donor variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
CTNS
Single nucleotide variant
(3 prime UTR variant)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(3 prime UTR variant)
Nephropathic cystinosis
+1 more
GLikely benign
CTNS
Single nucleotide variant
(3 prime UTR variant)
Ocular cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(3 prime UTR variant +1 more)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(3 prime UTR variant +1 more)
Nephropathic cystinosis
+1 more
GLikely benign
CTNS
Single nucleotide variant
(3 prime UTR variant +1 more)
Ocular cystinosis
+1 more
GUncertain significance
CTNS
(A97T +1 more)
Single nucleotide variant
(missense variant)
Ocular cystinosis
+3 more
GConflicting classifications of pathogenicity
CTNS
Single nucleotide variant
(synonymous variant)
Ocular cystinosis
+3 more
GConflicting classifications of pathogenicity
CTNS
Single nucleotide variant
(3 prime UTR variant)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(3 prime UTR variant)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(3 prime UTR variant +1 more)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS, CTNS-AS1
(V221M +1 more)
Single nucleotide variant
(missense variant)
Ocular cystinosis
+3 more
GConflicting classifications of pathogenicity
CTNS, CTNS-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ocular cystinosis
+3 more
GConflicting classifications of pathogenicity
CTNS, LOC130059980
Single nucleotide variant
(5 prime UTR variant)
Ocular cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(3 prime UTR variant)
Ocular cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(3 prime UTR variant)
Ocular cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(3 prime UTR variant)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(3 prime UTR variant)
Ocular cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(3 prime UTR variant)
Ocular cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(3 prime UTR variant)
Ocular cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(3 prime UTR variant)
Ocular cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(3 prime UTR variant)
Ocular cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(3 prime UTR variant)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(3 prime UTR variant)
Nephropathic cystinosis
+1 more
GUncertain significance
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