ClinVar (all) for Orgtrack (Select 506356) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 440834	NM_199242.3(UNC13D):c.2709+1G>A	LOC112533672, UNC13D	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 440775	NM_199242.3(UNC13D):c.1299-1G>A	UNC13D	Single nucleotide variant (splice acceptor variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic