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Links from MedGen

Items: 1 to 100 of 966

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC2
(L1007P +25 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
Single nucleotide variant
(intron variant)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
Duplication
(splice donor variant)
Isolated focal cortical dysplasia type II
GLikely pathogenic
TSC2
Single nucleotide variant
(intron variant)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
(S304G +10 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
(A42G +1 more)
Single nucleotide variant
(missense variant +3 more)
Tuberous sclerosis 2
+1 more
GUncertain significance
TSC2
(H229P +10 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
(Q232R +8 more)
Single nucleotide variant
(missense variant +2 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
(K1100del +34 more)
Deletion
(inframe deletion +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
Single nucleotide variant
(intron variant)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
(T125P +10 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 2
+1 more
GUncertain significance
TSC2
(R1006K +25 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
(I142L +8 more)
Single nucleotide variant
(missense variant +2 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
(G1013A +25 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
(V1167L +35 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
(I1196M +35 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
(L1189V +34 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
(S1116fs +34 more)
Deletion
(frameshift variant +1 more)
Isolated focal cortical dysplasia type II
GLikely pathogenic
TSC2
(I912L +10 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
Single nucleotide variant
(intron variant)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
(I1067V +34 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
Single nucleotide variant
(intron variant)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
(V1124A +35 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 2
+1 more
GUncertain significance
TSC2
(E118V +10 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
(T193A +8 more)
Single nucleotide variant
(missense variant +2 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC2
(A1008P +34 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
Single nucleotide variant
(splice acceptor variant)
Isolated focal cortical dysplasia type II
GLikely pathogenic
TSC1
(L115V +2 more)
Single nucleotide variant
(missense variant +2 more)
Tuberous sclerosis 1
+1 more
GUncertain significance
TSC1
(L614fs +15 more)
Duplication
(frameshift variant +1 more)
Tuberous sclerosis 1
+1 more
GConflicting classifications of pathogenicity
TSC1
(S108F)
Single nucleotide variant
(missense variant +3 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
(T473P +10 more)
Single nucleotide variant
(missense variant +2 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
(N1032D +15 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
(E1012del +15 more)
Deletion
(inframe deletion +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
Single nucleotide variant
(splice acceptor variant +1 more)
Isolated focal cortical dysplasia type II
GLikely pathogenic
TSC1
(E380K +10 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
(P145A +2 more)
Single nucleotide variant
(missense variant +2 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
(P238L +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
(Y125H +2 more)
Single nucleotide variant
(missense variant +2 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
(K272R +8 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
+1 more
GUncertain significance
TSC1
(H68L)
Single nucleotide variant
(intron variant +3 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
(P1009R +15 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
(R75S)
Single nucleotide variant
(missense variant +3 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
(G305R +8 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
(L58S)
Single nucleotide variant
(missense variant +3 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
(Q350R +10 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
(L347P +10 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
TSC1
(L378V +10 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
GUncertain significance
MTOR
(A1043D +1 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
GPathogenic
TSC2
(A1218T +34 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TSC2
(E1013* +34 more)
Single nucleotide variant
(nonsense +1 more)
Tuberous sclerosis 2
+2 more
GPathogenic
TSC2
(A175T +10 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC2
(F917V +4 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC1
(A12fs)
Deletion
(frameshift variant +3 more)
Isolated focal cortical dysplasia type II
+1 more
GLikely pathogenic
TSC1
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GUncertain significance
MTOR
(R1098Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TSC2
(A1088V +34 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 2
+1 more
GConflicting classifications of pathogenicity
TSC1
(D376N +10 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC2
(L592F +10 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC2
(A152S +8 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC1
(D383Y +8 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
MTOR
(S502fs +1 more)
Deletion
(frameshift variant)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC2
(K954fs)
Deletion
(frameshift variant +1 more)
Isolated focal cortical dysplasia type II
+1 more
GConflicting classifications of pathogenicity
TSC2
(H315L +10 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
TSC1
(K603E +10 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC2
(A19G +2 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC2
(S294Y +9 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC1
(Y246S +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC2
(E144Q +6 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC2
(P1217L +35 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TSC2
(K1076A +25 more)
Indel
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
MTOR
(L1017S +1 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
GLikely pathogenic
TSC2
Single nucleotide variant
(intron variant)
Isolated focal cortical dysplasia type II
+2 more
GLikely benign
TSC2
Single nucleotide variant
(intron variant)
Isolated focal cortical dysplasia type II
+2 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(intron variant)
Isolated focal cortical dysplasia type II
+2 more
GLikely benign
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis 2
+2 more
GLikely benign
TSC2
Single nucleotide variant
(intron variant)
Lymphangiomyomatosis
+2 more
GLikely benign
TSC2
Single nucleotide variant
(intron variant)
Isolated focal cortical dysplasia type II
+2 more
GLikely benign
TSC1
Single nucleotide variant
(synonymous variant)
Isolated focal cortical dysplasia type II
+2 more
GConflicting classifications of pathogenicity
TSC1
Single nucleotide variant
(synonymous variant)
Isolated focal cortical dysplasia type II
+3 more
GLikely benign
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis 2
+2 more
GLikely benign
MTOR
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(intron variant)
Isolated focal cortical dysplasia type II
+2 more
GBenign/Likely benign
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis 2
+2 more
GLikely benign
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis 2
+2 more
GLikely benign
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis 2
+2 more
GLikely benign
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis 2
+2 more
GLikely benign
TSC2
Indel
(intron variant)
Tuberous sclerosis 2
+2 more
GLikely benign
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis 2
+2 more
GLikely benign
TSC2
Single nucleotide variant
(intron variant)
Lymphangiomyomatosis
+2 more
GLikely benign
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis 2
+2 more
GLikely benign
TSC2
Single nucleotide variant
(intron variant)
Lymphangiomyomatosis
+2 more
GLikely benign
TSC2
Single nucleotide variant
(intron variant)
Tuberous sclerosis 2
+2 more
GLikely benign
TSC2
Single nucleotide variant
(intron variant)
Lymphangiomyomatosis
+2 more
GLikely benign
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
+2 more
GLikely benign
TSC2
Single nucleotide variant
(intron variant)
Isolated focal cortical dysplasia type II
+2 more
GLikely benign
TSC2
Single nucleotide variant
(synonymous variant)
Lymphangiomyomatosis
+2 more
GLikely benign
TSC2
Deletion
(intron variant)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC2
(H148Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
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