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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SREBF1
(R557C +9 more)
Single nucleotide variant
(missense variant +2 more)
IFAP syndrome 2
+2 more
GPathogenic
AKAP10, ALDH3A1
+47 more
Copy number loss
Smith-Magenis syndrome
GPathogenic