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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SEC24D
(G575A +1 more)
Single nucleotide variant
(missense variant)
Cole-Carpenter syndrome 2
GLikely pathogenic
SEC24D
(L352* +1 more)
Single nucleotide variant
(nonsense)
Cole-Carpenter syndrome 2
GLikely pathogenic