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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ5, KCNQ5-DT
+1 more
(R3S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
KCNQ5, KCNQ5-DT
+1 more
(R3L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNQ5, KCNQ5-DT
+1 more
(G8R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
KCNQ5, KCNQ5-DT
+1 more
(A27fs)
Deletion
(frameshift variant)
Inborn genetic diseases
+1 more
GUncertain significance
KCNQ5, KCNQ5-DT
+1 more
(G29R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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