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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ4
(Q122*)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 2A
GLikely pathogenic
KCNQ4
(P403L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
KCNQ4
(R411H)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 2A
+1 more
GConflicting classifications of pathogenicity
KCNQ4
(V566D +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2A
GUncertain significance
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