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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP2B2
(G243R)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 82
+1 more
Gnot provided
ATP2B2
(K304R +1 more)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 82
GUncertain significance
ATP2B2
(G307R)
Single nucleotide variant
(missense variant +1 more)
Hearing loss, autosomal dominant 82
GUncertain significance
ATP2B2
(D316fs)
Duplication
(frameshift variant +1 more)
Hearing loss, autosomal dominant 82
GLikely pathogenic
ATP2B2
(C666* +1 more)
Single nucleotide variant
(nonsense)
Hearing loss, autosomal dominant 82
GPathogenic
ATP2B2
(E655* +1 more)
Single nucleotide variant
(nonsense)
Hearing loss, autosomal dominant 82
GPathogenic
ATP2B2
(R732*)
Single nucleotide variant
(nonsense)
Hearing loss, autosomal dominant 82
GPathogenic
ATP2B2
(A319fs)
Deletion
(frameshift variant +1 more)
Hearing loss, autosomal dominant 82
GPathogenic
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