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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PI4KB
(Q133R)
Single nucleotide variant
(missense variant +1 more)
Hearing loss, autosomal dominant 87
GPathogenic
PI4KB
(M422R +3 more)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 87
GPathogenic
PI4KB
(E350K +3 more)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 87
GPathogenic
PI4KB
(V117G +3 more)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 87
GPathogenic
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