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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TP53
(A347T +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
+3 more
GConflicting classifications of pathogenicity
TP53
(R337H +3 more)
Single nucleotide variant
(missense variant +1 more)
Basal cell carcinoma, susceptibility to, 7
+17 more
GPathogenic/Likely pathogenic
TP53
(R273H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GPathogenic
OOncogenic
TP53
(R157* +3 more)
Single nucleotide variant
(nonsense)
Li-Fraumeni syndrome
+4 more
GPathogenic
TP53
Deletion
(intron variant)
Li-Fraumeni syndrome
GLikely pathogenic
TP53
(R119H +2 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+5 more
GPathogenic/Likely pathogenic
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