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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SETBP1
(E858K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SETBP1
(L928P)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SETBP1
(S1143P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SETBP1
(S1535R +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
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