C4225382[trait identifier] AND "Institute of Human Genetics, Cologne U - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664324	NM_014822.4(SEC24D):c.1724G>C (p.Gly575Ala)	SEC24D (G575A +1 more)	Single nucleotide variant (missense variant)	Cole-Carpenter syndrome 2	GLikely pathogenic
Select item 2664317	NM_014822.4(SEC24D):c.1055T>A (p.Leu352Ter)	SEC24D (L352* +1 more)	Single nucleotide variant (nonsense)	Cole-Carpenter syndrome 2	GLikely pathogenic