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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
(G2313C)
Single nucleotide variant
(missense variant)
Usher syndrome
+6 more
GConflicting classifications of pathogenicity
USH2A
(C1447fs)
Microsatellite
(frameshift variant)
Usher syndrome
GPathogenic
USH2A, USH2A-AS1
(L1229*)
Single nucleotide variant
(nonsense)
USH2A-Related Disorders
+3 more
GPathogenic/Likely pathogenic
USH2A
(E767fs)
Deletion
(frameshift variant)
Rare genetic deafness
+23 more
GConflicting classifications of pathogenicity
USH2A
(C419F)
Single nucleotide variant
(missense variant)
Usher syndrome
+6 more
GPathogenic
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