C1837174[trait identifier] AND "Diagnostic Genetics, Severance Hospita - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1070748	NM_199242.3(UNC13D):c.1055+1G>A	UNC13D	Single nucleotide variant (splice donor variant)	Autoinflammatory syndrome +1 more	GPathogenic/Likely pathogenic
Select item 533095	NM_199242.3(UNC13D):c.118-308C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GPathogenic/Likely pathogenic