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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HRAS, LRRC56
(E63K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
HRAS, LRRC56
(T58I)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GPathogenic
HRAS, LRRC56
(G12D)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+4 more
GPathogenic/Likely pathogenic
HRAS, LRRC56
(G12S)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GPathogenic
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