U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 107

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC1
(H1159Y +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC1
(P1142A +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+2 more
GConflicting classifications of pathogenicity
TSC1
(H1018Y +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+2 more
GConflicting classifications of pathogenicity
TSC1
(D1136E +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+3 more
GConflicting classifications of pathogenicity
TSC1
(R1093Q +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+4 more
GConflicting classifications of pathogenicity
TSC1
(A1041T +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC1
(A1092S +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TSC1
(P1000S +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC1
Insertion
(inframe_insertion)
not provided
+1 more
GUncertain significance
TSC1
(G1034D +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC1
(P900L +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC1
(G1016D +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+5 more
GConflicting classifications of pathogenicity
TSC1
(N1008S +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+3 more
GConflicting classifications of pathogenicity
TSC1
(M1004I +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+4 more
GUncertain significance
TSC1
(M1004T +3 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TSC1
(C996G +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+3 more
GUncertain significance
TSC1
(C874Y +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+3 more
GConflicting classifications of pathogenicity
TSC1
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
TSC1
(G901C +15 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC1
(L614fs +15 more)
Duplication
(frameshift variant +1 more)
Tuberous sclerosis 1
+1 more
GConflicting classifications of pathogenicity
TSC1
(S945N +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC1
(A823S +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
TSC1
(I788T +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+2 more
GUncertain significance
TSC1
(Q849E +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC1
(H843Y +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC1
(M880I +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
TSC1
(M828V +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TSC1
(V737I +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC1
(L732fs +2 more)
Deletion
(frameshift variant)
Tuberous sclerosis 1
GPathogenic
TSC1
(Q722E +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+2 more
GConflicting classifications of pathogenicity
TSC1
(T824A +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TSC1
(A817S +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
TSC1
(Y669C +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GConflicting classifications of pathogenicity
TSC1
(R767C +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+3 more
GUncertain significance
TSC1
(Q767E +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TSC1
(N641D +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GConflicting classifications of pathogenicity
TSC1
Single nucleotide variant
(splice donor variant)
Tuberous sclerosis syndrome
+4 more
GPathogenic/Likely pathogenic
TSC1
(A607T +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC1
(K603E +10 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+2 more
GUncertain significance
TSC1
(R718Q +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+4 more
GUncertain significance
TSC1
(R715W +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+2 more
GUncertain significance
TSC1
(R585H +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+3 more
GUncertain significance
TSC1
(R655C +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+3 more
GUncertain significance
TSC1
Deletion
(nonsense)
Isolated focal cortical dysplasia type II
+2 more
GPathogenic
TSC1
(D376N +10 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC1
(R692* +3 more)
Single nucleotide variant
(nonsense)
Lymphangiomyomatosis
+5 more
GPathogenic
TSC1
(R638P +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+2 more
GUncertain significance
TSC1
(P684del +3 more)
Microsatellite
(inframe_deletion)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC1
(P683R +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC1
(S620I +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
TSC1
(M525T +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+3 more
GUncertain significance
TSC1
(G512R +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GConflicting classifications of pathogenicity
TSC1
(E625A +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TSC1
(K272R +8 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC1
(H606Q +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+2 more
GConflicting classifications of pathogenicity
TSC1
(H555Y +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+3 more
GConflicting classifications of pathogenicity
TSC1
(D484N +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TSC1
(Y604C +3 more)
Single nucleotide variant
(missense variant)
Lymphangiomyomatosis
+5 more
GUncertain significance
TSC1
(P603R +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC1
(P602L +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+1 more
GUncertain significance
TSC1
(Q600H +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+4 more
GUncertain significance
TSC1
(T582I +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+4 more
GConflicting classifications of pathogenicity
TSC1
(S575fs +3 more)
Duplication
(frameshift variant)
Tuberous sclerosis 1
+1 more
GPathogenic
TSC1
(R466W +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+3 more
GConflicting classifications of pathogenicity
TSC1
(D383Y +8 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+1 more
GConflicting classifications of pathogenicity
TSC1
(I489F +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC1
(K477T +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC1
(C431R +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis syndrome
+3 more
GUncertain significance
TSC1
(A428L +3 more)
Indel
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
TSC1
(P419R +3 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+3 more
GConflicting classifications of pathogenicity
TSC1
(P419H +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
TSC1
(P101T +8 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC1
(I288F +8 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+3 more
GUncertain significance
TSC1
(P275S +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC1
(G261D +3 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC1
(T380S +2 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+3 more
GUncertain significance
TSC1
(P8S +4 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis syndrome
+2 more
GUncertain significance
TSC1
(P220L +2 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC1
(T214I +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
TSC1
(P190H +2 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC1
(T300I +2 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+2 more
GConflicting classifications of pathogenicity
TSC1
(Y246S +2 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+2 more
GUncertain significance
TSC1
(S161L +2 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GUncertain significance
TSC1
(S270L +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TSC1
(R228* +2 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
TSC1
(H226D +2 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+1 more
GUncertain significance
TSC1
(R204H +2 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+2 more
GConflicting classifications of pathogenicity
TSC1
(A186T +2 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+2 more
GConflicting classifications of pathogenicity
TSC1
(H181Y +2 more)
Single nucleotide variant
(missense variant)
Tuberous sclerosis 1
+3 more
GUncertain significance
TSC1
(Y176C +2 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+3 more
GConflicting classifications of pathogenicity
TSC1
(V172L +2 more)
Single nucleotide variant
(missense variant)
Isolated focal cortical dysplasia type II
+3 more
GUncertain significance
TSC1
Single nucleotide variant
(synonymous variant)
Tuberous sclerosis 1
+1 more
GUncertain significance
TSC1
(K168T +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TSC1
(L115V +2 more)
Single nucleotide variant
(missense variant +2 more)
Tuberous sclerosis 1
+1 more
GUncertain significance
TSC1
(G108S +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TSC1
Single nucleotide variant
(synonymous variant)
Isolated focal cortical dysplasia type II
+1 more
GLikely benign
TSC1
(T73S +2 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TSC1
(L116F)
Single nucleotide variant
(missense variant +2 more)
Tuberous sclerosis 1
+2 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination