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Links from MedGen

Items: 1 to 100 of 151

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LGI1
(F463Y +1 more)
Single nucleotide variant
(missense variant +2 more)
Epilepsy, familial temporal lobe, 1
GUncertain significance
LGI1
(S476A +1 more)
Single nucleotide variant
(missense variant +2 more)
Epilepsy, familial temporal lobe, 1
GUncertain significance
MICAL1
(S697* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
LGI1
(K180fs +1 more)
Deletion
(frameshift variant +1 more)
Epilepsy, familial temporal lobe, 1
GLikely pathogenic
LGI1
(Q187fs +1 more)
Duplication
(frameshift variant +1 more)
Epilepsy, familial temporal lobe, 1
GLikely pathogenic
LGI1
(R63fs)
Deletion
(frameshift variant +1 more)
Epilepsy, familial temporal lobe, 1
GLikely pathogenic
LGI1
(E216Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial temporal lobe, 1
GUncertain significance
MICAL1
(V255L +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, familial temporal lobe, 1
GLikely pathogenic
LGI1
(I273T +1 more)
Single nucleotide variant
(missense variant +2 more)
Epilepsy, familial temporal lobe, 1
GUncertain significance
LGI1
(G85R)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial temporal lobe, 1
GUncertain significance
LGI1
(N317fs +1 more)
Deletion
(frameshift variant +2 more)
Epilepsy, familial temporal lobe, 1
GLikely pathogenic
RELN, SLC26A5-AS1
Single nucleotide variant
(intron variant)
Epilepsy, familial temporal lobe, 1
+2 more
GBenign/Likely benign
MICAL1
Single nucleotide variant
(synonymous variant)
Epilepsy, familial temporal lobe, 1
+1 more
GBenign/Likely benign
RELN
Single nucleotide variant
(intron variant)
Norman-Roberts syndrome
+2 more
GLikely benign
LGI1
(P433fs +1 more)
Deletion
(frameshift variant +2 more)
Genitopatellar syndrome
+1 more
GPathogenic
MICAL1
Single nucleotide variant
(splice acceptor variant)
Epilepsy, familial temporal lobe, 1
GPathogenic
LGI1
(R282* +1 more)
Single nucleotide variant
(nonsense +2 more)
Epilepsy, familial temporal lobe, 1
+1 more
GPathogenic
RELN
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
RELN
Single nucleotide variant
(intron variant)
Familial temporal lobe epilepsy 7
+3 more
GLikely benign
RELN
Deletion
(intron variant)
Epilepsy, familial temporal lobe, 1
+3 more
GBenign
LGI1
Single nucleotide variant
(synonymous variant +1 more)
Epilepsy, familial temporal lobe, 1
+2 more
GBenign
RELN
Single nucleotide variant
(synonymous variant)
Epilepsy, familial temporal lobe, 1
+2 more
GLikely benign
RELN
(F557V)
Single nucleotide variant
(missense variant)
Epilepsy, familial temporal lobe, 1
+3 more
GConflicting classifications of pathogenicity
RELN
(N1749S)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+4 more
GConflicting classifications of pathogenicity
LGI1
Single nucleotide variant
(splice donor variant)
Epilepsy, familial temporal lobe, 1
GLikely pathogenic
MICAL1
(L735P +2 more)
Single nucleotide variant
(missense variant)
Epilepsy, familial temporal lobe, 1
GUncertain significance
MICAL1
(A341T +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial temporal lobe, 1
+1 more
GUncertain significance
RELN
(R164Q)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+2 more
GUncertain significance
RELN
(Y1793D)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+3 more
GUncertain significance
LGI1
Single nucleotide variant
(non-coding transcript variant +1 more)
Epilepsy, familial temporal lobe, 1
GLikely pathogenic
LGI1
(E2*)
Single nucleotide variant
(nonsense +1 more)
Epilepsy, familial temporal lobe, 1
GLikely pathogenic
RELN
(I494V)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+3 more
GConflicting classifications of pathogenicity
LGI1
(S92L)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial temporal lobe, 1
GUncertain significance
LGI1
Single nucleotide variant
(3 prime UTR variant +1 more)
Epilepsy, familial temporal lobe, 1
GUncertain significance
LGI1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LGI1
(H190Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
LGI1
(Y377H +1 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant epilepsy with auditory features
+2 more
GUncertain significance
RELN, SLC26A5-AS1
(S2932Y)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
RELN
(R2639H)
Single nucleotide variant
(missense variant)
Epilepsy, familial temporal lobe, 1
+2 more
GConflicting classifications of pathogenicity
RELN
(R550M)
Single nucleotide variant
(missense variant)
Epilepsy, familial temporal lobe, 1
+2 more
GConflicting classifications of pathogenicity
LGI1
(S369F +1 more)
Single nucleotide variant
(missense variant +2 more)
Epilepsy, familial temporal lobe, 1
+2 more
GUncertain significance
RELN, SLC26A5-AS1
(R2738Q)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
(P2875L)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GConflicting classifications of pathogenicity
RELN
(K751T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CEP55, FFAR4
+5 more
Deletion
Autosomal dominant epilepsy with auditory features
+1 more
GPathogenic
GRIN2A
(K160R)
Single nucleotide variant
(missense variant)
Epilepsy, familial temporal lobe, 1
GUncertain significance
MICAL1
Deletion
(nonsense)
Epilepsy, familial temporal lobe, 1
+1 more
GBenign/Likely benign
RELN
(D2326N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LGI1
(H479fs +1 more)
Deletion
(frameshift variant +2 more)
Autosomal dominant epilepsy with auditory features
+2 more
GPathogenic/Likely pathogenic
RELN, SLC26A5-AS1
(T3342M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
RELN
(P638L)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+3 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
(R3453* +1 more)
Single nucleotide variant
(nonsense)
Norman-Roberts syndrome
+2 more
GConflicting classifications of pathogenicity
LGI1
(V69I)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant epilepsy with auditory features
+2 more
GConflicting classifications of pathogenicity
LGI1
(R136Q)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial temporal lobe, 1
+1 more
GUncertain significance
RELN
(T2586I)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+4 more
GUncertain significance
RELN
Single nucleotide variant
(synonymous variant)
Norman-Roberts syndrome
+2 more
GLikely benign
RELN
(T20M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LOC126860131, RELN
(E446Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RELN
(V2475I)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GUncertain significance
RELN
(P1066L)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GConflicting classifications of pathogenicity
RELN, SLC26A5-AS1
(R2738W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
RELN
(I1890V)
Single nucleotide variant
(missense variant)
Epilepsy, familial temporal lobe, 1
+4 more
GConflicting classifications of pathogenicity
RELN
(A1823E)
Single nucleotide variant
(missense variant)
Epilepsy, familial temporal lobe, 1
+2 more
GUncertain significance
RELN
(R1742Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
LGI1
Single nucleotide variant
(synonymous variant +1 more)
Epilepsy, familial temporal lobe, 1
GLikely benign
LGI1
(C48Y)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial temporal lobe, 1
+1 more
GUncertain significance
RELN
(D1499H)
Single nucleotide variant
(missense variant)
Autism
+4 more
GConflicting classifications of pathogenicity
RELN
(K1223E)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
LGI1
(M1V)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GConflicting classifications of pathogenicity
LGI1
(D104N)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant epilepsy with auditory features
+2 more
GConflicting classifications of pathogenicity
RELN
Single nucleotide variant
(intron variant)
Epilepsy, familial temporal lobe, 1
+3 more
GBenign/Likely benign
RELN
(V2669I)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+3 more
GConflicting classifications of pathogenicity
LOC126860130, RELN
+1 more
(H3175P)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+4 more
GBenign/Likely benign
SLC26A5-AS1, RELN
(R3441Q +1 more)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+2 more
GConflicting classifications of pathogenicity
LGI1
Single nucleotide variant
(3 prime UTR variant +1 more)
Epilepsy, familial temporal lobe, 1
GUncertain significance
LGI1
Single nucleotide variant
(3 prime UTR variant +1 more)
Epilepsy, familial temporal lobe, 1
GUncertain significance
LGI1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
LGI1
Single nucleotide variant
(3 prime UTR variant +1 more)
Epilepsy, familial temporal lobe, 1
GUncertain significance
LGI1
Single nucleotide variant
(synonymous variant +2 more)
Epilepsy, familial temporal lobe, 1
+2 more
GConflicting classifications of pathogenicity
LGI1
(I446L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
LGI1
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant epilepsy with auditory features
+1 more
GConflicting classifications of pathogenicity
LGI1
Single nucleotide variant
(intron variant)
Epilepsy, familial temporal lobe, 1
GUncertain significance
LGI1
(R273Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant epilepsy with auditory features
+1 more
GUncertain significance
LGI1
Single nucleotide variant
(synonymous variant +1 more)
Epilepsy, familial temporal lobe, 1
GUncertain significance
LGI1
Single nucleotide variant
(5 prime UTR variant +1 more)
Epilepsy, familial temporal lobe, 1
GUncertain significance
LGI1
Single nucleotide variant
(5 prime UTR variant +1 more)
Epilepsy, familial temporal lobe, 1
GUncertain significance
LGI1
Single nucleotide variant
Epilepsy, familial temporal lobe, 1
GUncertain significance
LGI1
Single nucleotide variant
Epilepsy, familial temporal lobe, 1
GLikely benign
LGI1
Single nucleotide variant
Epilepsy, familial temporal lobe, 1
GUncertain significance
RELN
(R334H)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+5 more
GConflicting classifications of pathogenicity
RELN
(A2545V)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 7
+4 more
GConflicting classifications of pathogenicity
RELN
(R754W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
RELN
(V1941A)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
RELN
(L411I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
RELN
(T1495M)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+4 more
GUncertain significance
RELN
(I495V)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+4 more
GConflicting classifications of pathogenicity
RELN
(G370R)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+4 more
GConflicting classifications of pathogenicity
RELN
(P672L)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+3 more
GConflicting classifications of pathogenicity
LGI1
(S473L +1 more)
Single nucleotide variant
(missense variant +2 more)
Seizure
+1 more
GPathogenic/Likely pathogenic
LGI1
Deletion
Epilepsy, familial temporal lobe, 1
GPathogenic
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