U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A, USH2A-AS1
(Q1408*)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic
USH2A, USH2A-AS1
(T1357M)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+3 more
GUncertain significance
USH2A, USH2A-AS1
(S1349fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
+2 more
GPathogenic
USH2A, USH2A-AS1
(N1343H)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+4 more
GUncertain significance
USH2A, USH2A-AS1
(N1313D)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
USH2A, USH2A-AS1
(S1307*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
USH2A-AS1, USH2A
(G1301V)
Single nucleotide variant
Usher syndrome
GBenign
USH2A-AS1, USH2A
(R1295Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
USH2A, USH2A-AS1
(S1122A)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+5 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination