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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTNS, CTNS-AS1
(R119C)
Single nucleotide variant
(missense variant +1 more)
Ocular cystinosis
+3 more
GUncertain significance
CTNS, CTNS-AS1
(R119H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GBenign
CTNS, CTNS-AS1
(W138*)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+4 more
GPathogenic
CTNS, CTNS-AS1
Single nucleotide variant
(intron variant)
Ocular cystinosis
+6 more
GBenign/Likely benign
CTNS-AS1, CTNS
Single nucleotide variant
(synonymous variant)
Ocular cystinosis
+5 more
GBenign
CTNS, CTNS-AS1
Single nucleotide variant
(intron variant)
Ocular cystinosis
+5 more
GConflicting classifications of pathogenicity
CTNS, CTNS-AS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
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