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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNV2
(E6Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KCNV2
(Y13C)
Single nucleotide variant
(missense variant)
Cone dystrophy with supernormal rod response
+1 more
GUncertain significance
KCNV2
(L348P)
Single nucleotide variant
(missense variant)
Cone dystrophy with supernormal rod response
+2 more
GUncertain significance
KCNV2
Single nucleotide variant
(synonymous variant)
Cone dystrophy with supernormal rod response
+2 more
GBenign/Likely benign
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