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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNC3
(A673T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNC3
(R698H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
KCNC3
(G567S +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 13
+1 more
GBenign/Likely benign
KCNC3
(R420H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
KCNC3
(G331R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNC3
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 13
+1 more
GBenign/Likely benign
KCNC3, LOC130064972
Microsatellite
(inframe_insertion)
Spinocerebellar ataxia type 13
+1 more
GConflicting classifications of pathogenicity
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