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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CIC
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
CIC
(K121del)
Microsatellite
(inframe_deletion +2 more)
not specified
GUncertain significance
CIC
(R299C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CIC
(P466L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIC
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
CIC
(R610C)
Single nucleotide variant
(genic upstream transcript variant +1 more)
not specified
GUncertain significance
CIC
(P675S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CIC
(P788S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CIC
(R835Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CIC
(V871A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIC
(C1011S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIC
(R1048Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIC
(P1218L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIC
(Q1230R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIC
(P1298A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIC
(P1300S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIC
(A1445G +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CIC
(A1750V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIC
Single nucleotide variant
(intron variant)
not specified
GLikely benign
CIC
Single nucleotide variant
(intron variant)
not specified
GLikely benign
CIC
(S1884G +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CIC
(S1097C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIC
(A1185T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIC
(R1205W +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CIC
(R1256W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIC
(R1313W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIC
(P1336L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CIC
Single nucleotide variant
(intron variant)
not specified
GLikely benign
CIC
Deletion
Intellectual disability, autosomal dominant 45
GPathogenic
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