U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 3728

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TSC1
Deletion
Tuberous sclerosis 1
GLikely pathogenic
TSC1
Duplication
Tuberous sclerosis 1
GUncertain significance
TSC1
Duplication
Tuberous sclerosis 1
GUncertain significance
TSC1
Duplication
Tuberous sclerosis 1
GUncertain significance
TSC1
Duplication
Tuberous sclerosis 1
GUncertain significance
Deletion
Tuberous sclerosis 1
GUncertain significance
Deletion
Tuberous sclerosis 1
GUncertain significance
TSC1
Deletion
Tuberous sclerosis 1
GPathogenic
TSC1
Deletion
Tuberous sclerosis 1
GPathogenic
TSC1
Deletion
Tuberous sclerosis 1
GPathogenic
TSC1
Deletion
Tuberous sclerosis 1
GUncertain significance
TSC1
Deletion
Tuberous sclerosis 1
GPathogenic
TSC1
Deletion
Tuberous sclerosis 1
GPathogenic
TSC1
Deletion
Tuberous sclerosis 1
GPathogenic
TSC1
Deletion
Tuberous sclerosis 1
GPathogenic
TSC1
Deletion
Tuberous sclerosis 1
GPathogenic
TSC1
Deletion
Tuberous sclerosis 1
GUncertain significance
TSC1
(A178G +8 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(G1000R +15 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(H119del +8 more)
Deletion
(inframe_deletion +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(splice acceptor variant)
Tuberous sclerosis 1
GLikely pathogenic
TSC1
Single nucleotide variant
(splice acceptor variant)
Tuberous sclerosis 1
GLikely pathogenic
TSC1
(S719* +15 more)
Single nucleotide variant
(nonsense +1 more)
Tuberous sclerosis 1
GPathogenic
TSC1
(L33fs)
Deletion
(frameshift variant +3 more)
Tuberous sclerosis 1
GPathogenic
TSC1
Single nucleotide variant
(splice donor variant)
Tuberous sclerosis syndrome
+1 more
GLikely pathogenic
TSC1
(Y578* +15 more)
Single nucleotide variant
(nonsense +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(E406fs +10 more)
Deletion
(frameshift variant +1 more)
Tuberous sclerosis 1
GLikely pathogenic
TSC1
(L61fs)
Deletion
(frameshift variant +3 more)
Tuberous sclerosis 1
GPathogenic
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
(G113S +8 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
(A593V +15 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
+1 more
GUncertain significance
TSC1
(P1043S +15 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(synonymous variant +1 more)
Tuberous sclerosis 1
GLikely benign
TSC1
(Q480H +10 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
+2 more
GUncertain significance
TSC1
(P16T +4 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
(K170E +2 more)
Single nucleotide variant
(missense variant +2 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(synonymous variant +1 more)
Tuberous sclerosis 1
GBenign
TSC1
Single nucleotide variant
(synonymous variant +2 more)
Tuberous sclerosis 1
GLikely benign
TSC1
(N415H +10 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(synonymous variant +2 more)
Tuberous sclerosis 1
+1 more
GLikely benign
TSC1
Single nucleotide variant
(synonymous variant +2 more)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
(E330V +8 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(T456A +10 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
Deletion
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
(G1029R +15 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(H289R +8 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(P1023T +15 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(synonymous variant +1 more)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(synonymous variant +1 more)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(synonymous variant +1 more)
Tuberous sclerosis 1
GLikely benign
TSC1
(T1062A +15 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(synonymous variant +3 more)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(synonymous variant +1 more)
Tuberous sclerosis 1
GLikely benign
TSC1
Deletion
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(synonymous variant +2 more)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(synonymous variant +1 more)
Tuberous sclerosis 1
GLikely benign
TSC1
(S237Y +2 more)
Single nucleotide variant
(missense variant +3 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
(P311S +2 more)
Single nucleotide variant
(missense variant +2 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(H505D +10 more)
Single nucleotide variant
(missense variant +2 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(synonymous variant +3 more)
Tuberous sclerosis 1
GLikely benign
TSC1
(Y322* +4 more)
Single nucleotide variant
(nonsense +1 more)
Tuberous sclerosis 1
GPathogenic
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
(L213P +2 more)
Single nucleotide variant
(missense variant +2 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
(L11F)
Single nucleotide variant
(missense variant +3 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(L387del +8 more)
Microsatellite
(inframe_deletion +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(V7I)
Single nucleotide variant
(missense variant +3 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(L78I +2 more)
Single nucleotide variant
(missense variant +2 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(synonymous variant +1 more)
Tuberous sclerosis 1
GLikely benign
TSC1
(P8S +4 more)
Single nucleotide variant
(missense variant +1 more)
Isolated focal cortical dysplasia type II
+1 more
GUncertain significance
TSC1
(M18L)
Single nucleotide variant
(missense variant +3 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(R372K +8 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(R391K +8 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(synonymous variant +2 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(E9K)
Single nucleotide variant
(missense variant +3 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
(A141V +8 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(T62S)
Single nucleotide variant
(missense variant +3 more)
Tuberous sclerosis syndrome
+2 more
GUncertain significance
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GLikely benign
Format
Items per page
Sort by
Choose Destination