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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SETBP1
(G870S)
Single nucleotide variant
(missense variant)
Schinzel-Giedion syndrome
+2 more
GPathogenic
SETBP1
(I871T)
Single nucleotide variant
(missense variant)
Schinzel-Giedion syndrome
+5 more
GConflicting classifications of pathogenicity