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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CBL
(Y371H)
Single nucleotide variant
(missense variant)
CBL-related disorder
+4 more
GPathogenic
CBL
(Y371S)
Single nucleotide variant
(missense variant)
RASopathy
+3 more
GPathogenic/Likely pathogenic
CBL
(D712V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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