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Links from MedGen

Items: 1 to 100 of 580

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRV1
(Q2447*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 2C
GPathogenic
ADGRV1
(F4234fs)
Duplication
(frameshift variant +1 more)
Usher syndrome type 2C
GPathogenic
ADGRV1
(L1314*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 2C
GLikely pathogenic
ADGRV1
(L2098P)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
Deletion
Usher syndrome type 2C
GPathogenic
ADGRV1
(S5821P)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+1 more
GUncertain significance
ADGRV1
(Y2026*)
Duplication
(nonsense +1 more)
Usher syndrome type 2C
GPathogenic
ADGRV1
Single nucleotide variant
(intron variant)
Usher syndrome type 2C
GLikely pathogenic
ADGRV1
(L6028F)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ADGRV1
(Q3400*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 2C
GLikely pathogenic
ADGRV1
(D1301Y)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
Single nucleotide variant
(intron variant)
Febrile seizures, familial, 4
+2 more
GLikely benign
ADGRV1
(N150S)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(G4447D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PDZD7
(S86L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ADGRV1
(R4062W)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+2 more
GUncertain significance
ADGRV1
(Q2204*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Usher syndrome type 2C
+1 more
GPathogenic/Likely pathogenic
ADGRV1
(T1311A)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(G2824A)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ADGRV1
(M2401T)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(W1424*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 2C
GLikely pathogenic
ADGRV1
(A2344S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PDZD7
(Q515*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
ADGRV1
(I172F)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
(S4772*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 2C
GLikely pathogenic
PDZD7
Deletion
(intron variant)
Usher syndrome type 2C
+2 more
GBenign
ADGRV1
(T4788I)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
(R4277*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic
ADGRV1
(S5164R)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
(P2419S)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
(S2172P)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
Single nucleotide variant
(splice donor variant)
Usher syndrome type 2C
GLikely pathogenic
ADGRV1
(T2947fs)
Duplication
(frameshift variant +1 more)
Usher syndrome type 2C
GLikely pathogenic
ADGRV1
(S2537fs)
Deletion
(frameshift variant +1 more)
Usher syndrome type 2C
GLikely pathogenic
ADGRV1
(S5491N)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GLikely benign
ADGRV1
(R762H)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(P2029L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GLikely benign
ADGRV1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
ADGRV1
(A3422P)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
(T2467I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ADGRV1
(E4127fs)
Deletion
(frameshift variant +1 more)
Usher syndrome type 2C
GLikely pathogenic
ADGRV1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
ADGRV1
(V2244I)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome
+4 more
GUncertain significance
ADGRV1
(D4832N)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
(P3820T)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
(R437W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(Y5840H)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+2 more
GConflicting classifications of pathogenicity
PDZD7
(D200N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
ADGRV1
(Q3658H)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
PDZD7
(R811H)
Single nucleotide variant
(missense variant)
Usher syndrome type 2C
GUncertain significance
ADGRV1
Single nucleotide variant
(intron variant)
Usher syndrome type 2C
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(V828A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(P121L)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+2 more
GUncertain significance
ADGRV1
(R1841C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ADGRV1
(Y5840fs)
Deletion
(frameshift variant +1 more)
Usher syndrome type 2C
GLikely pathogenic
ADGRV1
Single nucleotide variant
(intron variant)
Usher syndrome type 2C
+2 more
GLikely benign
ADGRV1
(T6237M)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(R1144Q)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(G2006D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(F2770L)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+3 more
GConflicting classifications of pathogenicity
ADGRV1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
ADGRV1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(C5446S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
Single nucleotide variant
(synonymous variant +1 more)
Usher syndrome type 2C
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(L4774F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
ADGRV1
(I4773M)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(R4179Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ADGRV1
(I4160N)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+1 more
GUncertain significance
ADGRV1
(T3797I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(R3105Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ADGRV1
(I3061R)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
Single nucleotide variant
(synonymous variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
(A2631G)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(I2585T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(I2258V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(F2235L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ADGRV1
(S2200C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(L2176M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
Single nucleotide variant
(intron variant)
Usher syndrome type 2C
GUncertain significance
ADGRV1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(H1892Y)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
(V1889I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ADGRV1
(T1886R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(R1841H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ADGRV1
(E1391K)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(A1373V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
Single nucleotide variant
(synonymous variant +1 more)
Usher syndrome type 2C
+1 more
GConflicting classifications of pathogenicity
ADGRV1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
Single nucleotide variant
(intron variant)
Usher syndrome type 2C
GUncertain significance
ADGRV1
(V976I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(G945W)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
Single nucleotide variant
(synonymous variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
(I889T)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(I560V)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
GUncertain significance
ADGRV1
(Q526H)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(D473E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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