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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ5, KCNQ5-DT
+1 more
(G8R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
KCNQ5, KCNQ5-DT
+1 more
Microsatellite
(inframe_insertion)
KCNQ5-related disorder
+1 more
GLikely benign
KCNQ5, KCNQ5-DT
Single nucleotide variant
(synonymous variant)
KCNQ5-related disorder
+2 more
GBenign
KCNQ5, KCNQ5-DT
(K82*)
Single nucleotide variant
(nonsense)
KCNQ5-related disorder
GUncertain significance
KCNQ5, KCNQ5-DT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
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