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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNQ4
(Q71fs)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 2A
GPathogenic
KCNQ4
(Q71fs)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 2A
GPathogenic
KCNQ4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNQ4
(W242*)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 2A
GPathogenic
KCNQ4
(W276S)
Single nucleotide variant
(missense variant)
Rare genetic deafness
GPathogenic
KCNQ4
(G285C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
KCNQ4
(G285S)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
KCNQ4
(G287R)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2A
GPathogenic
KCNQ4
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 2A
Gnot provided
Deletion
Autosomal dominant nonsyndromic hearing loss 2A
GPathogenic
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