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

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 889844	NM_199242.3(UNC13D):c.*3G>A	UNC13D	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GUncertain significance
Select item 533105	NM_199242.3(UNC13D):c.3270G>A (p.Pro1090=)	UNC13D	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GBenign/Likely benign
Select item 263241	NM_199242.3(UNC13D):c.3252T>C (p.His1084=)	UNC13D	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 464458	NM_199242.3(UNC13D):c.3160A>G (p.Ile1054Val)	UNC13D (I1054V)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +3 more	GUncertain significance
Select item 1012139	NM_199242.3(UNC13D):c.3151G>A (p.Gly1051Arg)	UNC13D (G1051R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GConflicting classifications of pathogenicity
Select item 1694215	NM_199242.3(UNC13D):c.3122G>A (p.Arg1041His)	UNC13D (R1041H)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1694214	NM_199242.3(UNC13D):c.3097del (p.Glu1033fs)	UNC13D (E1033fs)	Deletion (frameshift variant)	Autoinflammatory syndrome	GLikely pathogenic
Select item 325245	NM_199242.3(UNC13D):c.3033C>T (p.Ala1011=)	UNC13D	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
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 1096325	NM_199242.3(UNC13D):c.2973G>A (p.Pro991=)	UNC13D	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 263237	NM_199242.3(UNC13D):c.2896C>T (p.Arg966Trp)	LOC112533672, UNC13D (R966W)	Single nucleotide variant (missense variant)	not provided +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)	not specified +2 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)	Autoinflammatory syndrome +1 more	GPathogenic
Select item 1694212	NM_199242.3(UNC13D):c.2678G>A (p.Arg893Gln)	LOC112533672, UNC13D (R893Q)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1148634	NM_199242.3(UNC13D):c.2637G>A (p.Arg879=)	LOC112533672, UNC13D	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 225509	NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp)	UNC13D (G863D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 791697	NM_199242.3(UNC13D):c.2499C>T (p.Ala833=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 1694211	NM_199242.3(UNC13D):c.2410T>C (p.Tyr804His)	UNC13D (Y804H)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694210	NM_199242.3(UNC13D):c.2370C>T (p.Ala790=)	UNC13D	Single nucleotide variant (synonymous variant)	UNC13D-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 420155	NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs)	UNC13D (R782fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GPathogenic
Select item 325252	NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)	UNC13D (V781I)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +3 more	GConflicting classifications of pathogenicity
Select item 403593	NM_199242.3(UNC13D):c.2335G>A (p.Val779Met)	UNC13D (V779M)	Single nucleotide variant (missense variant)	UNC13D-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1694209	NM_199242.3(UNC13D):c.2261A>C (p.His754Pro)	UNC13D (H754P)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GLikely pathogenic
Select item 1694208	NM_199242.3(UNC13D):c.2259C>A (p.Gly753=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 1694207	NM_199242.3(UNC13D):c.2258G>T (p.Gly753Val)	UNC13D (G753V)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GLikely pathogenic
Select item 967160	NM_199242.3(UNC13D):c.2219C>T (p.Thr740Met)	UNC13D (T740M)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 325256	NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln)	UNC13D (R727Q)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 950291	NM_199242.3(UNC13D):c.2137G>A (p.Gly713Ser)	UNC13D (G713S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GUncertain significance
Select item 263223	NM_199242.3(UNC13D):c.2052C>G (p.Leu684=)	UNC13D	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1694206	NM_199242.3(UNC13D):c.1947G>A (p.Trp649Ter)	UNC13D (W649*)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome	GPathogenic
Select item 1694205	NM_199242.3(UNC13D):c.1857C>T (p.Pro619=)	UNC13D	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1694204	NM_199242.3(UNC13D):c.1813_1830del (p.Leu605_Arg610del)	UNC13D	Deletion (inframe_deletion)	Autoinflammatory syndrome	GLikely pathogenic
Select item 632290	NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro)	UNC13D (R607P)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +3 more	GConflicting classifications of pathogenicity
Select item 1411105	NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter)	UNC13D (E603*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 753735	NM_199242.3(UNC13D):c.1773G>T (p.Pro591=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 325259	NM_199242.3(UNC13D):c.1772C>T (p.Pro591Leu)	UNC13D (P591L)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 325260	NM_199242.3(UNC13D):c.1759C>T (p.Arg587Cys)	UNC13D (R587C)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +3 more	GUncertain significance
Select item 263218	NM_199242.3(UNC13D):c.1744C>T (p.Leu582=)	UNC13D	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 464453	NM_199242.3(UNC13D):c.1708C>T (p.Arg570Cys)	UNC13D (R570C)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1107327	NM_199242.3(UNC13D):c.1626G>A (p.Thr542=)	UNC13D	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 235640	NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp)	UNC13D (R527W)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1999	NM_199242.3(UNC13D):c.1389+1G>A	UNC13D	Single nucleotide variant (splice donor variant)	Autoinflammatory syndrome +2 more	GPathogenic
Select item 708232	NM_199242.3(UNC13D):c.1232G>A (p.Arg411Gln)	UNC13D (R411Q)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 1694203	NM_199242.3(UNC13D):c.1229_1230dup (p.Arg411fs)	UNC13D (R411fs)	Duplication (frameshift variant)	Autoinflammatory syndrome +1 more	GPathogenic/Likely pathogenic
Select item 225510	NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu)	UNC13D (I410L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 325265	NM_199242.3(UNC13D):c.1216G>A (p.Gly406Ser)	UNC13D (G406S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GUncertain significance
Select item 1694202	NM_199242.3(UNC13D):c.1202C>T (p.Ser401Phe)	UNC13D (S401F)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
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 325268	NM_199242.3(UNC13D):c.972C>T (p.Asp324=)	UNC13D	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1513477	NM_199242.3(UNC13D):c.907C>T (p.His303Tyr)	UNC13D (H303Y)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 325269	NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe)	UNC13D (L302F)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GBenign/Likely benign
Select item 864157	NM_199242.3(UNC13D):c.887C>T (p.Pro296Leu)	UNC13D (P296L)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1385169	NM_199242.3(UNC13D):c.881C>T (p.Ser294Leu)	UNC13D (S294L)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GUncertain significance
Select item 960980	NM_199242.3(UNC13D):c.869C>T (p.Ser290Leu)	UNC13D (S290L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 263246	NM_199242.3(UNC13D):c.847A>G (p.Ile283Val)	UNC13D (I283V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 719448	NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser)	UNC13D (P271S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2000	NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter)	UNC13D (R256*)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome +2 more	GPathogenic/Likely pathogenic
Select item 381715	NM_199242.3(UNC13D):c.753+3G>A	UNC13D	Single nucleotide variant (intron variant)	UNC13D-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1694219	NM_199242.3(UNC13D):c.731G>A (p.Gly244Glu)	UNC13D (G244E)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1454697	NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter)	UNC13D (R214*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GPathogenic
Select item 742017	NM_199242.3(UNC13D):c.629T>G (p.Val210Gly)	UNC13D (V210G)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1694217	NM_199242.3(UNC13D):c.570-2A>T	UNC13D	Single nucleotide variant (splice acceptor variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 1694218	NM_199242.3(UNC13D):c.570-6A>C	UNC13D	Single nucleotide variant (intron variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694216	NM_199242.3(UNC13D):c.519G>C (p.Thr173=)	UNC13D	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1665063	NM_199242.3(UNC13D):c.321+9G>A	UNC13D	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 655464	NM_199242.3(UNC13D):c.280GAG[3] (p.Glu95dup)	UNC13D	Microsatellite (inframe_insertion)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GUncertain significance
Select item 1134552	NM_199242.3(UNC13D):c.261+9G>A	UNC13D	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 720889	NM_199242.3(UNC13D):c.261+8C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 631788	NM_199242.3(UNC13D):c.247C>T (p.Arg83Ter)	UNC13D (R83*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 263219	NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr)	UNC13D (A59T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 709297	NM_199242.3(UNC13D):c.154-8T>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GBenign/Likely benign
Select item 721667	NM_199242.3(UNC13D):c.118-9G>C	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 1166947	NM_199242.3(UNC13D):c.117+59C>T	UNC13D	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 721239	NM_199242.3(UNC13D):c.114G>A (p.Pro38=)	UNC13D	Single nucleotide variant (synonymous variant)	UNC13D-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 263249	NM_199242.3(UNC13D):c.99G>A (p.Pro33=)	UNC13D	Single nucleotide variant (synonymous variant)	UNC13D-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 263227	NM_199242.3(UNC13D):c.24G>A (p.Pro8=)	UNC13D	Single nucleotide variant (synonymous variant)	UNC13D-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 325285	NM_199242.2(UNC13D):c.-260C>T	UNC13D	Single nucleotide variant	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GConflicting classifications of pathogenicity

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Items: 79