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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TP53
(E154K +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+3 more
GPathogenic/Likely pathogenic
RB1
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic