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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP6V1B2
(I158V)
Single nucleotide variant
(missense variant)
Autosomal dominant deafness - onychodystrophy syndrome
GUncertain significance
ATP6V1B2
Single nucleotide variant
(intron variant)
Autosomal dominant deafness - onychodystrophy syndrome
+2 more
GBenign
ATP6V1B2
(V439I)
Single nucleotide variant
(missense variant)
Autosomal dominant deafness - onychodystrophy syndrome
GUncertain significance
ATP6V1B2
(R506*)
Single nucleotide variant
(nonsense)
Autosomal dominant deafness - onychodystrophy syndrome
+2 more
GPathogenic
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