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Links from MedGen

Items: 1 to 100 of 3643

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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)
Tuberous sclerosis 1
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 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
(Q480R +10 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(T184I +2 more)
Single nucleotide variant
(missense variant +3 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(synonymous variant +1 more)
Tuberous sclerosis 1
GLikely benign
TSC1
(V220I +2 more)
Single nucleotide variant
(missense variant +2 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
(S16Y)
Single nucleotide variant
(missense variant +3 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(H228Q +2 more)
Single nucleotide variant
(missense variant +2 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(S53G)
Single nucleotide variant
(missense variant +3 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(E105K +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
(synonymous variant +1 more)
Tuberous sclerosis 1
GLikely benign
TSC1
(S770A +15 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(G38D)
Indel
(missense variant +3 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(D321N +8 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(L93R)
Inversion
(missense variant +3 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(synonymous variant +1 more)
Tuberous sclerosis 1
GLikely benign
TSC1
(R499fs +15 more)
Deletion
(frameshift variant +1 more)
Tuberous sclerosis 1
GPathogenic
TSC1
(Q428L +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
(I611T +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
(S11C +4 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(V499A +8 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(D152fs +2 more)
Deletion
(frameshift variant +2 more)
Tuberous sclerosis 1
GPathogenic
TSC1
(H564Y +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
(S1028L +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
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
(V178F +2 more)
Single nucleotide variant
(missense variant +2 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(R593P +10 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(H539Y +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
Deletion
(splice donor variant)
Tuberous sclerosis 1
GLikely pathogenic
TSC1
Deletion
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
Insertion
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GUncertain significance
TSC1
Deletion
(intron variant)
Tuberous sclerosis 1
GLikely benign
TSC1
(V470L +10 more)
Single nucleotide variant
(missense variant +2 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(C221S +8 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(synonymous variant +1 more)
Tuberous sclerosis 1
GLikely benign
TSC1
(L782V +10 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(D616G +10 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GUncertain significance
TSC1
(L99fs)
Deletion
(frameshift variant +3 more)
Tuberous sclerosis 1
GPathogenic
TSC1
Single nucleotide variant
(5 prime UTR variant +1 more)
Tuberous sclerosis 1
GLikely benign
TSC1
(T146fs +2 more)
Deletion
(frameshift variant +2 more)
Tuberous sclerosis 1
GPathogenic
TSC1
(Q1003* +15 more)
Single nucleotide variant
(nonsense +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(I76fs)
Deletion
(frameshift variant +3 more)
Tuberous sclerosis 1
GPathogenic
TSC1
(A634V +15 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(synonymous variant +3 more)
Tuberous sclerosis 1
GLikely benign
TSC1
(P179L +8 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(synonymous variant +1 more)
Tuberous sclerosis 1
GLikely benign
TSC1
(D287fs +8 more)
Deletion
(frameshift variant +1 more)
Tuberous sclerosis 1
GPathogenic
TSC1
Single nucleotide variant
(synonymous variant +2 more)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GUncertain significance
TSC1
(L136fs +2 more)
Duplication
(frameshift variant +2 more)
Tuberous sclerosis 1
GPathogenic
TSC1
Single nucleotide variant
(intron variant)
Tuberous sclerosis 1
GUncertain significance
TSC1
(R765K +15 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Duplication
(splice donor variant)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(synonymous variant +2 more)
Tuberous sclerosis 1
GLikely benign
TSC1
(E672D +15 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
(C235W +8 more)
Single nucleotide variant
(missense variant +1 more)
Tuberous sclerosis 1
GUncertain significance
TSC1
Single nucleotide variant
(intron variant +1 more)
Tuberous sclerosis 1
GLikely benign
TSC1
(P206fs +3 more)
Deletion
(frameshift variant +2 more)
Tuberous sclerosis 1
GPathogenic
TSC1
Single nucleotide variant
(synonymous variant +1 more)
Tuberous sclerosis 1
GLikely benign
TSC1
Single nucleotide variant
(synonymous variant +3 more)
Tuberous sclerosis 1
GLikely benign
TSC1
(D15fs)
Deletion
(frameshift variant +3 more)
Tuberous sclerosis 1
GPathogenic
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