ClinVar for MedGen (Select 332383) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243033	NC_000017.10:g.(?_73839091)_(73841319_?)del	UNC13D	Deletion	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 3023592	NM_199242.3(UNC13D):c.417C>T (p.Gly139=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3022329	NM_199242.3(UNC13D):c.3135G>A (p.Thr1045=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3020923	NM_199242.3(UNC13D):c.1998C>A (p.Thr666=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3020759	NM_199242.3(UNC13D):c.2658C>T (p.Ala886=)	LOC112533672, UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3019766	NM_199242.3(UNC13D):c.1848+1G>A	UNC13D	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3019552	NM_199242.3(UNC13D):c.1875G>A (p.Lys625=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3019228	NM_199242.3(UNC13D):c.2830+18T>G	LOC112533672, UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3018159	NM_199242.3(UNC13D):c.2125C>A (p.Arg709=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3016752	NM_199242.3(UNC13D):c.1299-7C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3016235	NM_199242.3(UNC13D):c.237T>C (p.Ser79=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3015642	NM_199242.3(UNC13D):c.2448-13G>C	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GLikely benign
Select item 3015564	NM_199242.3(UNC13D):c.699C>T (p.Ala233=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3014879	NM_199242.3(UNC13D):c.1455G>A (p.Pro485=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3014194	NM_199242.3(UNC13D):c.1298+2T>C	UNC13D	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3013248	NM_199242.3(UNC13D):c.1191C>T (p.Ala397=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3012816	NM_199242.3(UNC13D):c.1389+16T>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3012693	NM_199242.3(UNC13D):c.2427G>A (p.Leu809=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3012454	NM_199242.3(UNC13D):c.1030C>T (p.Leu344=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3011696	NM_199242.3(UNC13D):c.1597-13C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3011316	NM_199242.3(UNC13D):c.912C>T (p.Leu304=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3011239	NM_199242.3(UNC13D):c.909C>T (p.His303=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3010153	NM_199242.3(UNC13D):c.2700C>A (p.Ile900=)	LOC112533672, UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3010000	NM_199242.3(UNC13D):c.1727+16A>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3009984	NM_199242.3(UNC13D):c.615-12C>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3008883	NM_199242.3(UNC13D):c.588C>T (p.Thr196=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3008438	NM_199242.3(UNC13D):c.2814G>T (p.Leu938=)	LOC112533672, UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3008338	NM_199242.3(UNC13D):c.1848+9G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3006758	NM_199242.3(UNC13D):c.683+17T>C	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3006710	NM_199242.3(UNC13D):c.1179G>A (p.Glu393=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3005947	NM_199242.3(UNC13D):c.1194A>C (p.Ser398=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3005791	NM_199242.3(UNC13D):c.942C>G (p.Thr314=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3004822	NM_199242.3(UNC13D):c.952-14C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3003633	NM_199242.3(UNC13D):c.614+9C>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3002017	NM_199242.3(UNC13D):c.2832C>T (p.Gly944=)	LOC112533672, UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 3000583	NM_199242.3(UNC13D):c.2625+1G>A	UNC13D	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 3000150	NM_199242.3(UNC13D):c.2625+18G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2999699	NM_199242.3(UNC13D):c.1727+20T>C	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2999201	NM_199242.3(UNC13D):c.2932T>C (p.Leu978=)	LOC112533672, UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2999156	NM_199242.3(UNC13D):c.2226T>C (p.His742=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2998493	NM_199242.3(UNC13D):c.1174-15del	UNC13D	Deletion (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2998060	NM_199242.3(UNC13D):c.1818G>T (p.Ala606=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2997949	NM_199242.3(UNC13D):c.3010C>T (p.Leu1004=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2995068	NM_199242.3(UNC13D):c.1383C>T (p.Ala461=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2994572	NM_199242.3(UNC13D):c.1848+9G>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2994286	NM_199242.3(UNC13D):c.1035C>G (p.Ser345=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2993941	NM_199242.3(UNC13D):c.2871G>A (p.Arg957=)	LOC112533672, UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2993200	NM_199242.3(UNC13D):c.952-9T>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2992496	NM_199242.3(UNC13D):c.2655G>T (p.Ala885=)	LOC112533672, UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2990850	NM_199242.3(UNC13D):c.48C>T (p.Arg16=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2990342	NM_199242.3(UNC13D):c.2553+11C>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2987922	NM_199242.3(UNC13D):c.3201C>T (p.Ala1067=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2986627	NM_199242.3(UNC13D):c.519G>T (p.Thr173=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2985199	NM_199242.3(UNC13D):c.1721C>G (p.Ser574Ter)	UNC13D (S574*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 2985004	NM_199242.3(UNC13D):c.2448-5C>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2984436	NM_199242.3(UNC13D):c.2955-9T>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2983158	NM_199242.3(UNC13D):c.2830+11G>A	LOC112533672, UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2983018	NM_199242.3(UNC13D):c.2553+13G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2982989	NM_199242.3(UNC13D):c.1849-15C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2982551	NM_199242.3(UNC13D):c.154-11G>C	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2982409	NM_199242.3(UNC13D):c.753+20G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2982383	NM_199242.3(UNC13D):c.262-1G>A	UNC13D	Single nucleotide variant (splice acceptor variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 2982259	NM_199242.3(UNC13D):c.684-14C>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2982201	NM_199242.3(UNC13D):c.1077C>T (p.Arg359=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2981830	NM_199242.3(UNC13D):c.2496G>T (p.Ala832=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2981601	NM_199242.3(UNC13D):c.389-9C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2981520	NM_199242.3(UNC13D):c.2982G>A (p.Lys994=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2979723	NM_199242.3(UNC13D):c.2299-16C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2977958	NM_199242.3(UNC13D):c.510C>A (p.Thr170=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2977932	NM_199242.3(UNC13D):c.1026G>C (p.Lys342Asn)	UNC13D (K342N)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 2974585	NM_199242.3(UNC13D):c.2298+12G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2972387	NM_199242.3(UNC13D):c.1563C>T (p.Leu521=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2971778	NM_199242.3(UNC13D):c.1848+2_1848+4del	UNC13D	Deletion (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 2971766	NM_199242.3(UNC13D):c.614+12G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2971441	NM_199242.3(UNC13D):c.1449C>A (p.Gly483=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2971294	NM_199242.3(UNC13D):c.952-10C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2971245	NM_199242.3(UNC13D):c.2553+7G>C	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2969661	NM_199242.3(UNC13D):c.561C>T (p.Thr187=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2969038	NM_199242.3(UNC13D):c.2710-36TGACCCTGC[3]	LOC112533672, UNC13D	Microsatellite (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2968142	NM_199242.3(UNC13D):c.1992+13C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2967271	NM_199242.3(UNC13D):c.3152-15C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2966496	NM_199242.3(UNC13D):c.2448-18C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2966461	NM_199242.3(UNC13D):c.261+11C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2966426	NM_199242.3(UNC13D):c.1884A>G (p.Thr628=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2966032	NM_199242.3(UNC13D):c.1447-10G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2965480	NM_199242.3(UNC13D):c.1644G>A (p.Val548=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2963683	NM_199242.3(UNC13D):c.756C>T (p.Asp252=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2963518	NM_199242.3(UNC13D):c.1800G>A (p.Thr600=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2963229	NM_199242.3(UNC13D):c.1056-9C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2963140	NM_199242.3(UNC13D):c.2818C>T (p.Leu940=)	LOC112533672, UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2962609	NM_199242.3(UNC13D):c.2430G>A (p.Val810=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2961630	NM_199242.3(UNC13D):c.1848+12G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2961102	NM_199242.3(UNC13D):c.831C>T (p.His277=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2960464	NM_199242.3(UNC13D):c.1848+18G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2959369	NM_199242.3(UNC13D):c.3141C>T (p.Pro1047=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2958882	NM_199242.3(UNC13D):c.2253G>T (p.Gly751=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2958170	NM_199242.3(UNC13D):c.2244G>A (p.Ala748=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2957806	NM_199242.3(UNC13D):c.1452C>A (p.Ile484=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2957084	NM_199242.3(UNC13D):c.168C>T (p.Tyr56=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2956405	NM_199242.3(UNC13D):c.2160A>T (p.Ala720=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign

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