C1837174[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705632	NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)	UNC13D (E1017K)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GConflicting classifications of pathogenicity
Select item 1996	NM_199242.3(UNC13D):c.1828_1839del (p.Arg610_Gln613del)	UNC13D	Deletion (inframe_deletion)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 1687358	NM_199242.3(UNC13D):c.1612C>T (p.Gln538Ter)	UNC13D (Q538*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 947732	NM_199242.3(UNC13D):c.1193C>T (p.Ser398Leu)	UNC13D (S398L)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 847734	NM_199242.3(UNC13D):c.1076G>A (p.Arg359His)	UNC13D (R359H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1355223	NM_199242.3(UNC13D):c.902A>G (p.His301Arg)	UNC13D (H301R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 1333524	NM_199242.3(UNC13D):c.751C>T (p.Gln251Ter)	UNC13D (Q251*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

ClinVar