"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 263237	NM_199242.3(UNC13D):c.2896C>T (p.Arg966Trp)	UNC13D, LOC112533672 (R966W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 263234	NM_199242.3(UNC13D):c.2782C>T (p.Arg928Cys)	LOC112533672, UNC13D (R928C)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +3 more	GBenign/Likely benign
Select item 1694213	NM_199242.3(UNC13D):c.2696G>A (p.Arg899Gln)	LOC112533672, UNC13D (R899Q)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 325247	NM_199242.3(UNC13D):c.2695C>T (p.Arg899Ter)	LOC112533672, UNC13D (R899*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GPathogenic
Select item 1694212	NM_199242.3(UNC13D):c.2678G>A (p.Arg893Gln)	LOC112533672, UNC13D (R893Q)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GUncertain significance
Select item 1148634	NM_199242.3(UNC13D):c.2637G>A (p.Arg879=)	LOC112533672, UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GConflicting classifications of pathogenicity

ClinVar