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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTOA
(S391L +2 more)
Single nucleotide variant
(missense variant)
OTOA-related condition
+3 more
GConflicting classifications of pathogenicity
OTOA
(G422V +2 more)
Single nucleotide variant
(missense variant)
OTOA-related condition
+2 more
GConflicting classifications of pathogenicity
OTOA
(A189fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 22
GPathogenic
OTOA
(Q265fs +2 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
OTOA
(Q1019* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 22
GPathogenic
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