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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTNS, CTNS-AS1
+6 more
Deletion
Nephropathic cystinosis
GPathogenic
CTNS
(T7fs)
Deletion
(frameshift variant +2 more)
CTNS-related condition
+7 more
GPathogenic
CTNS
Deletion
(inframe_deletion +2 more)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
CTNS, CTNS-AS1
(Q128*)
Single nucleotide variant
(nonsense +1 more)
Nephropathic cystinosis
+4 more
GPathogenic/Likely pathogenic
CTNS, CTNS-AS1
(W138*)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+4 more
GPathogenic
CTNS, CTNS-AS1
(S139F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
CTNS, CTNS-AS1
(L158P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GPathogenic/Likely pathogenic
CTNS, CTNS-AS1
Deletion
(splice donor variant)
Infantile nephropathic cystinosis
+4 more
GPathogenic/Likely pathogenic
CTNS, CTNS-AS1
(G197R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GPathogenic/Likely pathogenic
CTNS, CTNS-AS1
(D205del +1 more)
Microsatellite
(inframe_deletion)
Ocular cystinosis
+4 more
GPathogenic/Likely pathogenic
CTNS, CTNS-AS1
(D205N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GPathogenic
CTNS
(V233fs +1 more)
Duplication
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic
CTNS
(G308R +1 more)
Single nucleotide variant
(missense variant)
Nephropathic cystinosis
+4 more
GPathogenic/Likely pathogenic
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