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Links from MedGen

Items: 1 to 100 of 2274

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TP53
(Y103fs +1 more)
Deletion
(frameshift variant +1 more)
Li-Fraumeni syndrome
GLikely pathogenic
TP53
(G103fs +3 more)
Insertion
(frameshift variant +1 more)
Li-Fraumeni syndrome
GLikely pathogenic
TP53
(H140del +3 more)
Deletion
(inframe_deletion +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(P28A +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Deletion
(inframe_deletion +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
(K161T +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(F182L +3 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
Single nucleotide variant
(synonymous variant +2 more)
Li-Fraumeni syndrome
GLikely benign
TP53
Single nucleotide variant
(synonymous variant +1 more)
Li-Fraumeni syndrome
GLikely benign
TP53
(E187G +3 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(Y103Q +1 more)
Indel
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
(G223D +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(synonymous variant +1 more)
Li-Fraumeni syndrome
GLikely benign
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
(D207N +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
(M160T +3 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Duplication
(inframe_insertion +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(synonymous variant +1 more)
Li-Fraumeni syndrome
GLikely benign
TP53
Single nucleotide variant
(synonymous variant +1 more)
Li-Fraumeni syndrome
+1 more
GLikely benign
TP53
Microsatellite
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
(L224fs +3 more)
Duplication
(frameshift variant +2 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(S276P +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(M130L +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(I11L +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(synonymous variant +2 more)
Li-Fraumeni syndrome
GLikely benign
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
(E166D +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
(P48A +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
Duplication
(nonsense +2 more)
Li-Fraumeni syndrome
GPathogenic
TP53
(F209fs +3 more)
Deletion
(frameshift variant +2 more)
Li-Fraumeni syndrome
GPathogenic
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
(E232G +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(V164fs +3 more)
Microsatellite
(frameshift variant)
Li-Fraumeni syndrome
GPathogenic
TP53
Deletion
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
Single nucleotide variant
(synonymous variant +1 more)
Li-Fraumeni syndrome
GLikely benign
TP53
Single nucleotide variant
(synonymous variant +1 more)
Li-Fraumeni syndrome
GLikely benign
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
(P60A +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Duplication
(inframe_insertion +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(P4A)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(K32N +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(L111fs +1 more)
Deletion
(frameshift variant +1 more)
Li-Fraumeni syndrome
GPathogenic
TP53
(D220H +3 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Deletion
(inframe_deletion +2 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(L188fs +3 more)
Deletion
(frameshift variant)
Li-Fraumeni syndrome
GPathogenic
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
Deletion
(intron variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
(M1fs +1 more)
Deletion
(frameshift variant +2 more)
Li-Fraumeni syndrome
GPathogenic
TP53
(N178H +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(G154A +2 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(synonymous variant +1 more)
Li-Fraumeni syndrome
GLikely benign
TP53
Deletion
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
Indel
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
+1 more
GUncertain significance
TP53
(Q172H +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
Single nucleotide variant
(5 prime UTR variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(G108fs +1 more)
Deletion
(frameshift variant +1 more)
Li-Fraumeni syndrome
+1 more
GPathogenic
TP53
Deletion
(inframe_deletion +1 more)
Li-Fraumeni syndrome
GPathogenic
TP53
(N136S +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(G161fs +3 more)
Duplication
(frameshift variant +1 more)
Li-Fraumeni syndrome
GPathogenic
TP53
Deletion
(inframe_indel +1 more)
Li-Fraumeni syndrome
GPathogenic
TP53
(P46A +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(P48S +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(E21fs +3 more)
Deletion
(frameshift variant +1 more)
Li-Fraumeni syndrome
GPathogenic
TP53
(I100F +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
(T217K +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(L93R +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(synonymous variant +1 more)
Li-Fraumeni syndrome
GLikely benign
TP53
(E221M +3 more)
Indel
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(synonymous variant +1 more)
Li-Fraumeni syndrome
GLikely benign
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
Single nucleotide variant
(synonymous variant +1 more)
Li-Fraumeni syndrome
GLikely benign
TP53
(S201fs +3 more)
Insertion
(frameshift variant +1 more)
Li-Fraumeni syndrome
GPathogenic
TP53
(S129fs +3 more)
Deletion
(frameshift variant +1 more)
Li-Fraumeni syndrome
GPathogenic
TP53
(K198T +3 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(synonymous variant +1 more)
Li-Fraumeni syndrome
GLikely benign
TP53
(L194fs +3 more)
Deletion
(frameshift variant)
Li-Fraumeni syndrome
GPathogenic
TP53
(I215N +3 more)
Indel
(missense variant +1 more)
Li-Fraumeni syndrome
GPathogenic
TP53
Single nucleotide variant
(5 prime UTR variant +1 more)
Li-Fraumeni syndrome
GLikely benign
TP53
(V10D)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(synonymous variant +2 more)
Li-Fraumeni syndrome
GLikely benign
TP53
(G59C +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
GLikely benign
TP53
(P46L +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(S94fs +1 more)
Deletion
(frameshift variant +1 more)
Li-Fraumeni syndrome
GPathogenic
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