U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 1971

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A, USH2A-AS2
(Y1795*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(P394T)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 2A
GPathogenic
USH2A
(W4725R)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
GUncertain significance
USH2A
(E3052G)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
GUncertain significance
USH2A
(D411E)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
GUncertain significance
USH2A
(Q86L)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
GUncertain significance
USH2A
Single nucleotide variant
(intron variant)
Usher syndrome type 2A
GUncertain significance
USH2A
(L1470fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(S4506fs)
Duplication
(frameshift variant)
Usher syndrome type 2A
GPathogenic
USH2A
Copy number loss
Usher syndrome type 2A
GPathogenic
SFTPC
(P101L +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
GUncertain significance
USH2A
(H3234fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
GPathogenic
USH2A, USH2A-AS2
(M1731fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
USH2A
(T3817I)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
GUncertain significance
USH2A
(W2349*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
+1 more
GPathogenic/Likely pathogenic
USH2A
Single nucleotide variant
(splice donor variant)
Usher syndrome type 2A
+1 more
GPathogenic
USH2A
(I3532T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
USH2A
(S29T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+3 more
GUncertain significance
USH2A
(R4040C)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+3 more
GUncertain significance
USH2A, USH2A-AS2
(R1885G)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
USH2A
(D5103N)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
USH2A, USH2A-AS2
(N1758S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
USH2A
(S4067R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
USH2A
(E5001K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
USH2A
(T3735S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
USH2A
(G2928E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
USH2A
(N5160S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
USH2A
(V3619I)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
USH2A
(R2509Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
USH2A
(I2085V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
USH2A
(P4632S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
USH2A, USH2A-AS1
(A1009G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
USH2A
(Y2028C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
USH2A
(C3444Y)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+3 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS2
(G1827R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
USH2A
(S2450R)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+2 more
GUncertain significance
USH2A
(R3543H)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
USH2A, USH2A-AS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
USH2A
(V4314M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
USH2A, USH2A-AS1
(R981H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
USH2A, USH2A-AS1
(G1227A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
USH2A, USH2A-AS1
(I1274V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
USH2A
(V4973M)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+3 more
GUncertain significance
USH2A
(R3626S)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+2 more
GUncertain significance
USH2A
(S137F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
USH2A, USH2A-AS1
(N1270S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
USH2A
(G420D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
USH2A
(H117Y)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
USH2A
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(H490P)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
GUncertain significance
USH2A
Microsatellite
Usher syndrome type 2A
+1 more
GPathogenic
USH2A
(R303C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
USH2A
(G3665R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
USH2A
(F5058L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
USH2A
(I2759V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
USH2A
(R2343Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+2 more
GUncertain significance
USH2A
Deletion
Usher syndrome type 2A
GPathogenic
USH2A
Deletion
Usher syndrome type 2A
GLikely pathogenic
USH2A
Deletion
Usher syndrome type 2A
GLikely pathogenic
USH2A
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
USH2A
(Y2277*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
LOC122152296, USH2A
(G910fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(Y4494*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(P465fs)
Indel
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(V500fs)
Indel
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A, USH2A-AS1
(S1162fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(K757*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
+1 more
GLikely pathogenic
LOC122152296, USH2A
(F842fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A, USH2A-AS2
(W1944*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(S391fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(L2019*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(Y4887*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(W412*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(Q265*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(A339fs)
Insertion
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A, USH2A-AS1
(G1271*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(K2890*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A, USH2A-AS1
(T1028fs)
Indel
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A, USH2A-AS1
(L1111*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
LOC122152296, USH2A
(C808fs)
Indel
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(Q477fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
LOC122152296, USH2A
(K793*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A, USH2A-AS1
(W1208*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(Q2728*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
LOC122152296, USH2A
(K773*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(K3876*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(E4321*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(K665fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A, USH2A-AS1
(Q1298fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(L4549*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(L553fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(S333fs)
Indel
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(S3527*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
LOC122152296, USH2A
(C817*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A, USH2A-AS1
(L1229fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(S245fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(G3203*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(G4483*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
USH2A
(E3019*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination