U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 85

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRV1
(G573V +1 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GLikely pathogenic
USH2A
(C620*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2
GPathogenic
USH2A
(E3305fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
USH2A
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
USH2A
(D4105fs)
Deletion
(frameshift variant)
not provided
GPathogenic
USH2A
(C2603*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
GLikely pathogenic
USH2A
(K3063*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2
GPathogenic
USH2A
(K2213fs)
Microsatellite
(frameshift variant)
Usher syndrome type 2
GPathogenic
USH2A
(C617Y)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
GPathogenic
USH2A, USH2A-AS1
(C999F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
USH2A
(G2390*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
USH2A
(Q4334*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
USH2A
(K3201fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ADGRV1
(I1669V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
USH2A
(Q3839fs)
Deletion
(frameshift variant)
not provided
GPathogenic
LOC122152296, USH2A
(Q927*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
USH2A
(Y3745*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
+2 more
GPathogenic
USH2A
(Y2596C)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
+5 more
GUncertain significance
USH2A
(C4424*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
USH2A
(V3612I)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
+4 more
GUncertain significance
USH2A
(P2647fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
USH2A
(K716*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
USH2A
(I223T)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
GPathogenic
USH2A
(S2043fs)
Microsatellite
(frameshift variant)
Usher syndrome type 2A
+2 more
GPathogenic
USH2A-AS1, USH2A
(V1395fs)
Microsatellite
(frameshift variant)
Usher syndrome type 2
GPathogenic
USH2A
(C662*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2
GPathogenic
USH2A
Deletion
(inframe_deletion)
Usher syndrome type 2
GPathogenic
MYO7A
(R655P +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
GPathogenic
MYO7A
(L607R +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
GPathogenic
ADGRV1
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 2
GPathogenic
ADGRV1
(G1066fs)
Duplication
(frameshift variant +1 more)
Usher syndrome type 2
GPathogenic
USH2A
(N192T)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
GPathogenic
USH2A
(Q3228*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
USH2A
(R2343fs)
Deletion
(frameshift variant)
Usher syndrome type 2A
+2 more
GPathogenic
USH2A, USH2A-AS1
(E1404*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
USH2A, USH2A-AS1
(T1128fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
USH2A
Indel
(nonsense)
Usher syndrome type 2A
+2 more
GPathogenic
USH2A
(T5022fs)
Indel
(frameshift variant)
Usher syndrome type 2A
+5 more
GPathogenic/Likely pathogenic
USH2A
(E4921*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2
+2 more
GPathogenic/Likely pathogenic
USH2A
(W4285*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2
+1 more
GPathogenic
USH2A
(G4112fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
USH1C
Single nucleotide variant
(splice acceptor variant)
Hearing impairment
+2 more
GPathogenic/Likely pathogenic
USH1C
(V88fs)
Deletion
(frameshift variant +1 more)
Usher syndrome type 2
+1 more
GPathogenic
CDH23
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
CDH23, LOC111982869
(A445S +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
USH2A
(G614R)
Single nucleotide variant
(missense variant)
Retinal dystrophy
GUncertain significance
USH2A
(L619P)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
GLikely pathogenic
USH2A
(D703E)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
GLikely pathogenic
USH2A-AS2, USH2A
(G1840V)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
GPathogenic
USH2A
(S2907R)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
GLikely pathogenic
USH2A
(P3404fs)
Deletion
(frameshift variant)
not provided
GPathogenic
USH2A
(Y4039fs)
Deletion
(frameshift variant)
not provided
GPathogenic
USH2A
(R4675*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2
GPathogenic
ADGRV1
(K5165fs)
Deletion
(frameshift variant +1 more)
Usher syndrome type 2
GPathogenic
ADGRV1
(M4042fs)
Deletion
(frameshift variant +1 more)
Usher syndrome type 2
GPathogenic
ADGRV1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
ADGRV1
(W3486*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
USH2A, USH2A-AS1
(V1339G)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
USH2A
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
USH2A
(Q81fs)
Duplication
(frameshift variant)
Retinitis pigmentosa 39
+3 more
GPathogenic
USH2A
(C4808*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 39
+1 more
GLikely pathogenic
USH2A
(R334Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
USH2A
(S1455R)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
+1 more
GConflicting classifications of pathogenicity
USH1C
(S281fs)
Deletion
(frameshift variant +2 more)
Autosomal recessive nonsyndromic hearing loss 18A
+3 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS1
(W1074*)
Single nucleotide variant
(nonsense)
Usher syndrome type 2A
+2 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS2
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 2A
+2 more
GPathogenic/Likely pathogenic
USH2A
(Y4298N)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
+1 more
GConflicting classifications of pathogenicity
USH2A
(Y4710S)
Single nucleotide variant
(missense variant)
Usher syndrome type 2
+1 more
GConflicting classifications of pathogenicity
MYO7A
(W47fs +1 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
USH2A, USH2A-AS2
Single nucleotide variant
(splice donor variant)
Retinal dystrophy
+6 more
GPathogenic
USH2A
(R334W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
USH2A
(S1961fs)
Deletion
(frameshift variant)
Retinitis pigmentosa 39
+5 more
GPathogenic/Likely pathogenic
LOC122152296, USH2A
(C934W)
Single nucleotide variant
(missense variant)
Usher syndrome
+4 more
GConflicting classifications of pathogenicity
ADGRV1
(R3227*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 2C
+1 more
GPathogenic
USH2A
(G3142*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
+7 more
GPathogenic/Likely pathogenic
USH2A
(G268R)
Single nucleotide variant
(missense variant)
Usher syndrome
+4 more
GPathogenic/Likely pathogenic
USH2A
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 2A
+4 more
GPathogenic
USH2A
(Y380C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(R3147Q)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(G573V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ADGRV1
Single nucleotide variant
(splice acceptor variant)
Usher syndrome
+3 more
GPathogenic/Likely pathogenic
USH2A
Single nucleotide variant
(intron variant)
not provided
+6 more
GPathogenic/Likely pathogenic
USH2A
(R737*)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+3 more
GPathogenic
USH2A
Single nucleotide variant
(synonymous variant)
Usher syndrome type 2
+10 more
GPathogenic
USH2A
(W3955*)
Single nucleotide variant
(nonsense)
Hearing impairment
+10 more
GPathogenic
Format
Items per page
Sort by
Choose Destination