C1837174[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 967056	NM_199242.3(UNC13D):c.3220C>T (p.Arg1074Trp)	UNC13D (R1074W)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 2438482	NM_199242.3(UNC13D):c.3103G>A (p.Gly1035Ser)	UNC13D (G1035S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 1323738	NM_199242.3(UNC13D):c.3006del (p.Val1003fs)	UNC13D (V1003fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 464457	NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)	UNC13D (A995P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 582747	NM_199242.3(UNC13D):c.2893G>A (p.Ala965Thr)	LOC112533672, UNC13D (A965T)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 464455	NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)	UNC13D (I848L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1323739	NM_199242.3(UNC13D):c.2381del (p.Leu794fs)	UNC13D (L794fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 533089	NM_199242.3(UNC13D):c.2243C>T (p.Ala748Val)	UNC13D (A748V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1513663	NM_199242.3(UNC13D):c.2125C>T (p.Arg709Trp)	UNC13D (R709W)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 1430832	NM_199242.3(UNC13D):c.2089A>G (p.Met697Val)	UNC13D (M697V)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 533098	NM_199242.3(UNC13D):c.1727+1G>A	UNC13D	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic/Likely pathogenic
Select item 2438481	NM_199242.3(UNC13D):c.1246G>A (p.Val416Ile)	UNC13D (V416I)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 1070748	NM_199242.3(UNC13D):c.1055+1G>A	UNC13D	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 757672	NM_199242.3(UNC13D):c.1014C>T (p.His338=)	UNC13D	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1078603	NM_199242.3(UNC13D):c.760C>T (p.Arg254Cys)	UNC13D (R254C)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GConflicting classifications of pathogenicity
Select item 574872	NM_199242.3(UNC13D):c.610A>G (p.Met204Val)	UNC13D (M204V)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 2438480	NM_199242.3(UNC13D):c.389-55C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance