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Links from MedGen

Items: 1 to 100 of 106

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTNS
Deletion
Cystinosis
GPathogenic
CTNS
(F100fs +1 more)
Deletion
(frameshift variant)
Cystinosis
GPathogenic
CTNS
Deletion
Cystinosis
GPathogenic
CTNS
(Q137* +1 more)
Single nucleotide variant
(nonsense)
Cystinosis
GLikely pathogenic
CTNS
Deletion
(inframe_deletion)
Cystinosis
GPathogenic
CTNS, CTNS-AS1
(Q189* +1 more)
Single nucleotide variant
(nonsense)
Cystinosis
+4 more
GPathogenic/Likely pathogenic
CTNS, TAX1BP3
Deletion
Cystinosis
GLikely pathogenic
CTNS
Single nucleotide variant
Ocular cystinosis
+3 more
GBenign
CTNS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
CTNS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
CTNS
(K133R +1 more)
Single nucleotide variant
(missense variant)
Ocular cystinosis
+4 more
GPathogenic/Likely pathogenic
CTNS
(F203del +1 more)
Microsatellite
(inframe_deletion)
Ocular cystinosis
+3 more
GUncertain significance
CTNS, CTNS-AS1
(A212V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
CTNS, CTNS-AS1
(A212T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CTNS, CTNS-AS1
(Y185F +1 more)
Single nucleotide variant
(missense variant)
Cystinosis
GUncertain significance
CTNS, CTNS-AS1
(I178M +1 more)
Single nucleotide variant
(missense variant)
Cystinosis
GUncertain significance
CTNS-AS1, CTNS
(V129E)
Single nucleotide variant
(missense variant +1 more)
Ocular cystinosis
+2 more
GUncertain significance
CTNS, CTNS-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ocular cystinosis
+2 more
GLikely benign
CTNS-AS1, CTNS
(V76I)
Single nucleotide variant
(missense variant +1 more)
Cystinosis
GUncertain significance
CTNS
Single nucleotide variant
(intron variant)
Ocular cystinosis
+2 more
GUncertain significance
CTNS
Single nucleotide variant
(intron variant +2 more)
Ocular cystinosis
+2 more
GLikely benign
CTNS
Single nucleotide variant
Cystinosis
GUncertain significance
CTNS
Single nucleotide variant
Cystinosis
GUncertain significance
CTNS
Deletion
Cystinosis
GPathogenic
CTNS, CTNS-AS1
Single nucleotide variant
(splice donor variant)
Nephropathic cystinosis
+4 more
GPathogenic
CTNS
(R47W)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
CTNS, CTNS-AS1
(Q145*)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+2 more
GPathogenic
CTNS, CTNS-AS1
(R152W +1 more)
Single nucleotide variant
(missense variant)
CTNS-related disorder
+3 more
GUncertain significance
CTNS
Deletion
(splice donor variant +1 more)
Nephropathic cystinosis
+4 more
GPathogenic/Likely pathogenic
CTNS
Single nucleotide variant
(synonymous variant)
Ocular cystinosis
+2 more
GLikely benign
CTNS, CTNS-AS1
Single nucleotide variant
(synonymous variant)
Juvenile nephropathic cystinosis
+2 more
GLikely benign
CTNS, CTNS-AS1
Deletion
(intron variant)
Ocular cystinosis
+2 more
GLikely benign
CTNS, CTNS-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ocular cystinosis
+3 more
GBenign/Likely benign
CTNS
(D74N)
Single nucleotide variant
(missense variant +2 more)
CTNS-related disorder
+3 more
GLikely benign
CTNS, CTNS-AS1
Single nucleotide variant
(synonymous variant)
Ocular cystinosis
+2 more
GLikely benign
CTNS
Single nucleotide variant
(synonymous variant +2 more)
Ocular cystinosis
+2 more
GLikely benign
CTNS, CTNS-AS1
(R114H)
Single nucleotide variant
(missense variant +1 more)
Ocular cystinosis
+2 more
GLikely benign
CTNS
Single nucleotide variant
(intron variant)
Ocular cystinosis
+2 more
GLikely benign
CTNS, CTNS-AS1
Single nucleotide variant
(synonymous variant)
Ocular cystinosis
+3 more
GLikely benign
CTNS
Single nucleotide variant
(synonymous variant)
Ocular cystinosis
+2 more
GLikely benign
CTNS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
CTNS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
CTNS, CTNS-AS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
CTNS, CTNS-AS1
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CTNS, CTNS-AS1
(A122T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CTNS, CTNS-AS1
(S141F)
Single nucleotide variant
(missense variant +1 more)
Nephropathic cystinosis
+5 more
GPathogenic/Likely pathogenic
CTNS
(L278P +1 more)
Single nucleotide variant
(missense variant)
Nephropathic cystinosis
+3 more
GUncertain significance
CTNS, CTNS-AS1
(F142fs)
Deletion
(frameshift variant +1 more)
Cystinosis
GLikely pathogenic
CTNS
(P361L +1 more)
Single nucleotide variant
(missense variant)
Juvenile nephropathic cystinosis
+2 more
GLikely benign
CTNS
Single nucleotide variant
not provided
GBenign
CTNS, CTNS-AS1
Single nucleotide variant
(synonymous variant)
Ocular cystinosis
+4 more
GPathogenic
CTNS, CTNS-AS1
(V233fs +1 more)
Microsatellite
(frameshift variant)
Ocular cystinosis
+4 more
GPathogenic/Likely pathogenic
CTNS
(T277fs +1 more)
Duplication
(frameshift variant)
Ocular cystinosis
+3 more
GPathogenic
CTNS
Single nucleotide variant
(intron variant)
Nephropathic cystinosis
+4 more
GPathogenic
CTNS
(Y290* +1 more)
Single nucleotide variant
(nonsense)
Nephropathic cystinosis
+1 more
GPathogenic/Likely pathogenic
CTNS
Single nucleotide variant
(splice acceptor variant)
Nephropathic cystinosis
+1 more
GPathogenic/Likely pathogenic
CTNS
(G258fs +1 more)
Deletion
(frameshift variant)
Nephropathic cystinosis
+5 more
GPathogenic
CTNS, CTNS-AS1
Single nucleotide variant
(synonymous variant)
Ocular cystinosis
+4 more
GConflicting classifications of pathogenicity
CTNS
(I69fs)
Deletion
(frameshift variant +2 more)
Ocular cystinosis
+4 more
GPathogenic
CTNS, CTNS-AS1
(T216fs +1 more)
Duplication
(frameshift variant)
Ocular cystinosis
+3 more
GPathogenic
CTNS
Duplication
(3 prime UTR variant)
Cystinosis
+1 more
GBenign
CTNS
Deletion
(3 prime UTR variant)
Cystinosis
+1 more
GUncertain significance
CTNS
Deletion
(3 prime UTR variant)
Cystinosis
+1 more
GBenign
CTNS
Duplication
(3 prime UTR variant)
Cystinosis
+1 more
GUncertain significance
CTNS
Deletion
(3 prime UTR variant)
Cystinosis
+1 more
GUncertain significance
CTNS
Microsatellite
(3 prime UTR variant)
Cystinosis
+1 more
GLikely benign
CTNS
Duplication
(3 prime UTR variant)
Cystinosis
+1 more
GUncertain significance
CTNS
Duplication
(3 prime UTR variant)
Cystinosis
+1 more
GUncertain significance
CTNS
Insertion
(3 prime UTR variant)
Cystinosis
+1 more
GUncertain significance
CTNS
Duplication
(3 prime UTR variant)
Cystinosis
+1 more
GLikely benign
CTNS
Indel
(3 prime UTR variant)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS
(D324N +1 more)
Single nucleotide variant
(missense variant)
Ocular cystinosis
+4 more
GUncertain significance
CTNS
(R232H +1 more)
Single nucleotide variant
(missense variant)
Ocular cystinosis
+3 more
GConflicting classifications of pathogenicity
CTNS
(S39L)
Single nucleotide variant
(missense variant +2 more)
not provided
+6 more
GConflicting classifications of pathogenicity
CTNS
Single nucleotide variant
(synonymous variant +2 more)
Ocular cystinosis
+5 more
GBenign/Likely benign
CTNS
(V32I)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
CTNS
Microsatellite
(5 prime UTR variant)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS, CTNS-AS1
Single nucleotide variant
(intron variant)
Ocular cystinosis
+6 more
GBenign/Likely benign
CTNS
Single nucleotide variant
(synonymous variant)
Ocular cystinosis
+3 more
GConflicting classifications of pathogenicity
CTNS
(G308R +1 more)
Single nucleotide variant
(missense variant)
Ocular cystinosis
+4 more
GPathogenic/Likely pathogenic
CTNS-AS1, CTNS
(W182R +1 more)
Single nucleotide variant
(missense variant)
Ocular cystinosis
+2 more
GLikely pathogenic
CTNS-AS1, CTNS
(I133F)
Single nucleotide variant
(missense variant +1 more)
Cystinosis
Gnot provided
CTNS, CTNS-AS1
(Q128*)
Single nucleotide variant
(nonsense +1 more)
Cystinosis
+4 more
GPathogenic/Likely pathogenic
CTNS
(T260I +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign
CTNS, CTNS-AS1
Single nucleotide variant
(intron variant)
Nephropathic cystinosis
+5 more
GConflicting classifications of pathogenicity
CTNS, CTNS-AS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign
CTNS, CTNS-AS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign
CTNS
(N41fs)
Deletion
(frameshift variant +2 more)
Cystinosis
GPathogenic
CTNS
(V31fs)
Duplication
(frameshift variant +2 more)
Cystinosis
GPathogenic
CTNS
Insertion
Cystinosis
GPathogenic
CTNS, CTNS-AS1
(S86fs)
Microsatellite
(frameshift variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic
CTNS, CTNS-AS1
(Q108fs)
Deletion
(frameshift variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
CTNS, CTNS-AS1
(R119H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GBenign
CTNS, CTNS-AS1
Deletion
(splice donor variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
CTNS
(T7fs)
Deletion
(frameshift variant +2 more)
not provided
+7 more
GPathogenic
CTNS, CTNS-AS1
(D205del +1 more)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
CTNS
(S310fs +1 more)
Duplication
(frameshift variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
CTNS, CTNS-AS1
Deletion
(splice donor variant)
Nephropathic cystinosis
+4 more
GPathogenic/Likely pathogenic
CTNS, CTNS-AS1
(D205N +1 more)
Single nucleotide variant
(missense variant)
Cystinosis
+5 more
GPathogenic
CTNS, CTNS-AS1
(L158P +1 more)
Single nucleotide variant
(missense variant)
Nephropathic cystinosis
+5 more
GPathogenic/Likely pathogenic
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