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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TP53
(R205C +3 more)
Single nucleotide variant
(missense variant +1 more)
Adrenocortical carcinoma, hereditary
+4 more
GPathogenic/Likely pathogenic
TP53
(R174* +3 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
TP53
(C116* +3 more)
Single nucleotide variant
(nonsense)
Li-Fraumeni syndrome 1
GPathogenic
TP53
(Y181C +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
Colorectal cancer
+19 more
GPathogenic
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