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Items: 1 to 100 of 798

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130060143, LOC130060144
+963 more
Copy number gain
See cases
GPathogenic
MIR22HG, MIR3183
+464 more
Copy number loss
See cases
GPathogenic
MIR6883, MIR744
+923 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+652 more
Copy number loss
See cases
GPathogenic
LOC130059866, LOC130059867
+499 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+912 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
LOC130060025, LOC130060026
+458 more
Copy number loss
See cases
GPathogenic
HIC1, INPP5K
+303 more
Copy number loss
See cases
GPathogenic
YWHAE, ZBTB4
+605 more
Copy number gain
See cases
GPathogenic
LOC130059934, LOC130059935
+243 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+352 more
Copy number loss
See cases
GPathogenic
UBE2G1, USP6
+304 more
Copy number loss
See cases
GPathogenic
ASPA, ATP2A3
+166 more
Copy number gain
See cases
GPathogenic
ANKFY1, ASPA
+126 more
Copy number gain
See cases
GPathogenic
ASPA, CTNS
+33 more
Copy number gain
See cases
GUncertain significance
ASPA, CTNS
+28 more
Copy number gain
See cases
GUncertain significance
ASPA, CTNS
+47 more
Copy number gain
See cases
GLikely benign
ASPA, CAMKK1
+48 more
Copy number gain
See cases
GUncertain significance
ASPA, CAMKK1
+48 more
Copy number gain
See cases
GUncertain significance
HASPIN, ITGAE
+27 more
Deletion
not provided
GUncertain significance
ASPA, CTNS
+27 more
Copy number loss
See cases
Gconflicting data from submitters
CTNS, CTNS-AS1
+22 more
Copy number loss
See cases
GUncertain significance
CTNS, CTNS-AS1
+11 more
Copy number gain
See cases
GUncertain significance
CTNS, CTNS-AS1
+6 more
Deletion
Nephropathic cystinosis
GPathogenic
TRPV1, CTNS
Single nucleotide variant
(intron variant)
Nephropathic cystinosis
GBenign
LOC130060037, LOC130060038
+291 more
Copy number loss
See cases
GPathogenic
CTNS, CTNS-AS1
+11 more
Deletion
Normal pregnancy
Gnot provided
CTNS, CTNS-AS1
+5 more
Copy number loss
See cases
GBenign
CTNS
Single nucleotide variant
not provided
GBenign
CTNS
Single nucleotide variant
not provided
GBenign
CTNS
Single nucleotide variant
Cystinosis
GUncertain significance
CTNS
Single nucleotide variant
Cystinosis
GUncertain significance
CTNS, CTNS-AS1
+2 more
Deletion
Ocular cystinosis
+3 more
GPathogenic
CTNS, CTNS-AS1
+2 more
Deletion
Ocular cystinosis
+3 more
GPathogenic
CTNS, LOC130059981
+2 more
Deletion
Ocular cystinosis
+2 more
GPathogenic
CTNS
Insertion
Ocular cystinosis
GPathogenic
CTNS
Single nucleotide variant
Ocular cystinosis
GPathogenic
CTNS
Single nucleotide variant
Ocular cystinosis
+3 more
GBenign
CTNS
Single nucleotide variant
not provided
GBenign
CTNS
Single nucleotide variant
(5 prime UTR variant)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS, LOC130059980
Single nucleotide variant
(5 prime UTR variant)
Ocular cystinosis
+2 more
GBenign
CTNS, LOC130059980
Single nucleotide variant
(5 prime UTR variant)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS, LOC130059980
Single nucleotide variant
(5 prime UTR variant)
Ocular cystinosis
+1 more
GUncertain significance
CTNS, LOC130059980
Single nucleotide variant
(5 prime UTR variant)
Ocular cystinosis
+1 more
GLikely benign
CTNS, LOC130059980
Single nucleotide variant
(5 prime UTR variant)
Ocular cystinosis
+2 more
GBenign
CTNS, LOC130059980
Single nucleotide variant
(5 prime UTR variant)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS, LOC130059980
Single nucleotide variant
(5 prime UTR variant)
Ocular cystinosis
+1 more
GUncertain significance
CTNS, LOC130059980
Single nucleotide variant
(5 prime UTR variant)
Ocular cystinosis
+1 more
GUncertain significance
CTNS, LOC130059980
Single nucleotide variant
(5 prime UTR variant)
Ocular cystinosis
+1 more
GUncertain significance
CTNS, LOC130059980
Single nucleotide variant
(intron variant)
Ocular cystinosis
+2 more
GBenign
CTNS
Single nucleotide variant
(5 prime UTR variant +1 more)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(5 prime UTR variant +1 more)
Ocular cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(intron variant)
Ocular cystinosis
+1 more
GBenign
CTNS, CTNS-AS1
+1 more
Copy number loss
See cases
GLikely benign
CTNS, CTNS-AS1
+1 more
Copy number loss
See cases
GBenign
CTNS, CTNS-AS1
+1 more
Copy number loss
See cases
GBenign
CTNS, LOC130059981
Single nucleotide variant
(5 prime UTR variant)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(5 prime UTR variant)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(5 prime UTR variant)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(5 prime UTR variant)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(5 prime UTR variant)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS
Microsatellite
(5 prime UTR variant)
Nephropathic cystinosis
+1 more
GUncertain significance
CTNS
Single nucleotide variant
(intron variant)
Ocular cystinosis
+1 more
GUncertain significance
CTNS, CTNS-AS1
Copy number loss
See cases
GLikely benign
CTNS
Single nucleotide variant
(intron variant)
not provided
GBenign
CTNS, CTNS-AS1
Copy number loss
See cases
GConflicting classifications of pathogenicity
CTNS
Single nucleotide variant
(splice acceptor variant +1 more)
Nephropathic cystinosis
GLikely pathogenic
CTNS
Single nucleotide variant
(5 prime UTR variant +1 more)
Nephropathic cystinosis
GUncertain significance
CTNS
(M1L)
Single nucleotide variant
(missense variant +3 more)
Ocular cystinosis
+2 more
GPathogenic
CTNS
(I2T)
Single nucleotide variant
(missense variant +2 more)
Juvenile nephropathic cystinosis
+2 more
GUncertain significance
CTNS
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+2 more
GLikely benign
CTNS
(W5*)
Single nucleotide variant
(nonsense +2 more)
Nephropathic cystinosis
GPathogenic
CTNS
(T7fs)
Deletion
(frameshift variant +2 more)
Cystinosis
+6 more
GPathogenic
CTNS
(T7fs)
Deletion
(frameshift variant +2 more)
Nephropathic cystinosis
GLikely pathogenic
CTNS
(I8V)
Single nucleotide variant
(missense variant +2 more)
Ocular cystinosis
+2 more
GUncertain significance
CTNS
(F9fs)
Deletion
(frameshift variant +2 more)
Ocular cystinosis
+2 more
GPathogenic
CTNS
(I10T)
Single nucleotide variant
(missense variant +2 more)
Ocular cystinosis
+2 more
GLikely benign
CTNS
Single nucleotide variant
(synonymous variant +2 more)
Ocular cystinosis
+2 more
GLikely benign
CTNS
Deletion
(nonsense +2 more)
Nephropathic cystinosis
+3 more
GPathogenic/Likely pathogenic
CTNS
Single nucleotide variant
(synonymous variant +2 more)
Ocular cystinosis
+2 more
GLikely benign
CTNS
Single nucleotide variant
(synonymous variant +2 more)
Ocular cystinosis
+2 more
GLikely benign
CTNS
(V17I)
Single nucleotide variant
(missense variant +2 more)
Ocular cystinosis
+2 more
GUncertain significance
CTNS
Microsatellite
(nonsense +2 more)
Nephropathic cystinosis
GPathogenic
CTNS
Deletion
(splice donor variant +1 more)
Nephropathic cystinosis
+3 more
GPathogenic/Likely pathogenic
CTNS
(E21*)
Single nucleotide variant
(nonsense +2 more)
Ocular cystinosis
+3 more
GPathogenic/Likely pathogenic
CTNS
Single nucleotide variant
(splice donor variant +1 more)
Ocular cystinosis
+2 more
GLikely pathogenic
CTNS
Single nucleotide variant
(splice donor variant +1 more)
Nephropathic cystinosis
GLikely pathogenic
CTNS
Single nucleotide variant
(splice donor variant +1 more)
Nephropathic cystinosis
+3 more
GLikely pathogenic
CTNS
Single nucleotide variant
(intron variant)
Ocular cystinosis
+3 more
GPathogenic
CTNS
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GLikely benign
CTNS
Single nucleotide variant
(intron variant)
Ocular cystinosis
+2 more
GLikely benign
CTNS
Single nucleotide variant
(intron variant)
Ocular cystinosis
+2 more
GLikely benign
CTNS
Single nucleotide variant
(intron variant)
Ocular cystinosis
+2 more
GLikely benign
CTNS
Single nucleotide variant
(intron variant)
Ocular cystinosis
+3 more
GLikely benign
CTNS
Deletion
(splice acceptor variant +2 more)
Nephropathic cystinosis
GPathogenic
CTNS
Single nucleotide variant
(intron variant)
not provided
GBenign
CTNS
Deletion
Ocular cystinosis
+3 more
GPathogenic
CTNS
Deletion
Inborn genetic diseases
+3 more
GPathogenic
CTNS
Single nucleotide variant
(intron variant)
Ocular cystinosis
+2 more
GLikely benign
CTNS
Single nucleotide variant
(splice acceptor variant +1 more)
Nephropathic cystinosis
GLikely pathogenic
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