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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A, USH2A-AS1
(Q1408*)
Single nucleotide variant
(nonsense)
not specified
+5 more
GPathogenic
USH2A, USH2A-AS1
(S1369L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+6 more
GConflicting classifications of pathogenicity
USH2A-AS1, USH2A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS1
Deletion
(nonsense)
not provided
GLikely pathogenic
USH2A, USH2A-AS1
(Y1103*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
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