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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TP53
(R210* +3 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Adrenocortical carcinoma, hereditary
+14 more
GPathogenic
TP53
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+6 more
GBenign/Likely benign
TP53
(E166* +3 more)
Single nucleotide variant
(nonsense)
Li-Fraumeni syndrome
GPathogenic
TP53
(R117K +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TP53
(R248Q +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
Microsatellite
(inframe_deletion)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TP53
(N103S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GBenign
TP53
(Y181C +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
TP53
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+5 more
GBenign
TP53
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TP53
Single nucleotide variant
(intron variant)
Li-Fraumeni syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(P151S +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
TP53
(G105fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
TP53
(P72R +1 more)
Single nucleotide variant
(missense variant)
Choroid plexus papilloma
+16 more
GBenign
TP53
(P47S +1 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GBenign
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