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Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TP53
(L25fs)
Duplication
(frameshift variant +1 more)
Choroid plexus papilloma
+6 more
GPathogenic
TP53
(G187A +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+12 more
GUncertain significance
TP53
(R141G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+13 more
GPathogenic/Likely pathogenic
TP53
(R158L +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+3 more
GConflicting classifications of pathogenicity
TP53
(S323fs +3 more)
Deletion
(frameshift variant +1 more)
Bone marrow failure syndrome 5
GPathogenic
TP53
(S323fs +3 more)
Deletion
(frameshift variant +1 more)
Bone marrow failure syndrome 5
GPathogenic
TP53
(H341fs +3 more)
Deletion
(frameshift variant +1 more)
Colorectal cancer
+7 more
GConflicting classifications of pathogenicity
TP53
(L130P +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+12 more
GPathogenic
TP53
Single nucleotide variant
(5 prime UTR variant)
Li-Fraumeni syndrome 1
+13 more
GConflicting classifications of pathogenicity
TP53
(R150P +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+14 more
GPathogenic/Likely pathogenic
TP53
(R141L +3 more)
Single nucleotide variant
(missense variant)
Nasopharyngeal carcinoma
+14 more
GPathogenic
TP53
(G115D +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 1
GUncertain significance
TP53
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
+17 more
GBenign/Likely benign
TP53
(R210* +3 more)
Single nucleotide variant
(nonsense +1 more)
Adrenocortical carcinoma, hereditary
+14 more
GPathogenic
TP53
(G202R +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(intron variant)
not specified
+16 more
GBenign/Likely benign
TP53
(Y107H +1 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GBenign
TP53
(G115S +2 more)
Single nucleotide variant
(missense variant +1 more)
Adrenocortical carcinoma, hereditary
+16 more
GUncertain significance
TP53
(R151C +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GLikely benign
TP53
(Y181C +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
TP53
(P47S +1 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GBenign
TP53
(R337H +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+17 more
GPathogenic/Likely pathogenic
TP53
(R175H +3 more)
Single nucleotide variant
(missense variant)
not provided
+15 more
GPathogenic
TP53
(R273H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
TP53
(G245S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
TP53
(S241F +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+14 more
GPathogenic/Likely pathogenic
TP53
(P72R +1 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+16 more
GBenign
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