U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A, USH2A-AS2
Single nucleotide variant
(splice donor variant)
Usher syndrome
GLikely pathogenic
USH2A, USH2A-AS2
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa 39
+2 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS2
(V1940A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
USH2A, USH2A-AS2
Single nucleotide variant
(splice donor variant)
not provided
+6 more
GPathogenic
USH2A, USH2A-AS2
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 39
+3 more
GUncertain significance
USH2A, USH2A-AS2
(A1872fs)
Indel
(frameshift variant)
Retinal dystrophy
+3 more
GPathogenic
USH2A, USH2A-AS2
(R1870W)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS2
(G1861S)
Single nucleotide variant
(missense variant)
Usher syndrome
GPathogenic
USH2A, USH2A-AS2
Single nucleotide variant
(intron variant)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS2
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS2
(V1839E)
Single nucleotide variant
(missense variant)
Usher syndrome
GLikely pathogenic
USH2A, USH2A-AS2
(P1836T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
USH2A, USH2A-AS2
(S1835L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+4 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS2
(V1816G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS2
Deletion
(inframe_indel)
Retinitis pigmentosa 39
+3 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS2
(W1800*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
+4 more
GPathogenic
USH2A, USH2A-AS2
(D1760fs)
Deletion
(frameshift variant)
Retinal dystrophy
+3 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS2
(L1727F)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GUncertain significance
USH2A, USH2A-AS2
(G1723R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+4 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS2
(W1706*)
Single nucleotide variant
(nonsense)
Hearing impairment
+4 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS2
(N1635fs)
Indel
(non-coding transcript variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination