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Links from MedGen

Items: 1 to 100 of 127

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRV1
(T5791A)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
ADGRV1
(T1402I)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
ADGRV1
(E3055Q)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
ADGRV1
(H3399Y)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+1 more
GUncertain significance
ADGRV1
(E5062V)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
ADGRV1
(P88L)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
ADGRV1
Single nucleotide variant
(intron variant)
Febrile seizures, familial, 4
GUncertain significance
ADGRV1
(Y5882C)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GLikely pathogenic
ADGRV1
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
ADGRV1
(N150S)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+2 more
GUncertain significance
ADGRV1
(R4062W)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+2 more
GUncertain significance
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)
not provided
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(I87V)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
ADGRV1
(D3862G)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
ADGRV1
(A2344S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(G2379R)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
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
Deletion
(splice acceptor variant)
Usher syndrome
+2 more
GPathogenic/Likely pathogenic
ADGRV1
(P2186A)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
LOC128772266, LOC128772267
+8 more
Deletion
Febrile seizures, familial, 4
GUncertain significance
ADGRV1
(V2244I)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome
+3 more
GUncertain significance
ADGRV1
(Y5840H)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(V828A)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(P121L)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+2 more
GUncertain significance
ADGRV1
(E5071G)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
ADGRV1
(P108R)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+1 more
GUncertain significance
ADGRV1
Single nucleotide variant
(intron variant)
Usher syndrome type 2C
+2 more
GLikely benign
ADGRV1
(T6237M)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(R1144Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(H2823Q)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(F2770L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(L4774F)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(F2235L)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+2 more
GUncertain significance
ADGRV1
(L2830V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ADGRV1
Single nucleotide variant
(splice acceptor variant)
Retinal dystrophy
+3 more
GPathogenic/Likely pathogenic
ADGRV1
(T879M)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(T4849S)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+2 more
GUncertain significance
ADGRV1
(T992A)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(L4112W)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(P6210L)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+2 more
GUncertain significance
ADGRV1
(E5139Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ADGRV1
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 2C
+1 more
GPathogenic/Likely pathogenic
ADGRV1
(F3018L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ADGRV1
Single nucleotide variant
(synonymous variant +1 more)
Usher syndrome type 2C
+2 more
GLikely benign
ADGRV1
(G2824V)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
ADGRV1
(I4868V)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
ADGRV1
(S2471R)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
GUncertain significance
ADGRV1
(P4155L)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(R3601G)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+2 more
GUncertain significance
ADGRV1
(T1325M)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+5 more
GConflicting classifications of pathogenicity
ADGRV1
(Y4235C)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(D6252N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
ADGRV1
(M6001L)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+4 more
GConflicting classifications of pathogenicity
ADGRV1
(S5625L)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(V4907F)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
ADGRV1
Single nucleotide variant
(synonymous variant +1 more)
Usher syndrome type 2C
+3 more
GBenign/Likely benign
ADGRV1
(R5688*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 2C
+2 more
GPathogenic
ADGRV1
(G4987R)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(H4273R)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(E4328K)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(H4453R)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(H4461R)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(I3212T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(Y1496C)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(I4003T)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+3 more
GUncertain significance
ADGRV1
(P5057S)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(L5920I)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(L2765F)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(V2524E)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+4 more
GUncertain significance
ADGRV1
(S4768L)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(I4043T)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(G3489E)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+3 more
GUncertain significance
ADGRV1
(T5444K)
Single nucleotide variant
(missense variant +1 more)
ADGRV1-related condition
+4 more
GConflicting classifications of pathogenicity
ADGRV1
(A5049T)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 4
+3 more
GUncertain significance
ADGRV1
(R4117C)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(Y2790C)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+2 more
GUncertain significance
ADGRV1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
ADGRV1
(R2625C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
ADGRV1
(V4061F)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+4 more
GConflicting classifications of pathogenicity
ADGRV1
(S819N)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
ADGRV1
(L619V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(G4011V)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
ADGRV1
(R3780C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ADGRV1
(A1503T)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+3 more
GConflicting classifications of pathogenicity
ADGRV1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(N1572D)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ADGRV1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
ADGRV1
(E3215K)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
ADGRV1
(R2959Q)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+3 more
GBenign/Likely benign
ADGRV1
Insertion
(intron variant)
Usher syndrome type 2C
+3 more
GBenign/Likely benign
ADGRV1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
ADGRV1
(I2704F)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 2C
+4 more
GConflicting classifications of pathogenicity
ADGRV1
(A2490T)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
ADGRV1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
ADGRV1
(Y2410C)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign
ADGRV1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
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