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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYFIP1, NIPA1
+2 more
Copy number loss
Numerous pigmented freckles
+9 more
GPathogenic
MYH9
(D1424G)
Single nucleotide variant
(missense variant)
MYH9-related disorder
+10 more
GLikely pathogenic