ClinVar for Gene (Select 8676) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171721	NM_003764.4(STX11):c.242G>A (p.Ser81Asn)	STX11 (S81N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062907	GRCh37/hg19 6q24.2(chr6:144206499-144709592)x3	HYMAI, PLAGL1 +4 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3015959	NM_003764.4(STX11):c.543C>T (p.Phe181=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 3015562	NM_003764.4(STX11):c.678G>A (p.Glu226=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 3007222	NM_003764.4(STX11):c.741C>A (p.Leu247=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 3005411	NM_003764.4(STX11):c.402G>A (p.Ala134=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 3001195	NM_003764.4(STX11):c.324G>A (p.Lys108=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2996991	NM_003764.4(STX11):c.174G>A (p.Leu58=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2990733	NM_003764.4(STX11):c.180C>A (p.Ala60=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2988292	NM_003764.4(STX11):c.303C>T (p.His101=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2980757	NM_003764.4(STX11):c.846C>T (p.Cys282=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2978733	NM_003764.4(STX11):c.405C>T (p.Leu135=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2975572	NM_003764.4(STX11):c.801G>A (p.Val267=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2973886	NM_003764.4(STX11):c.121C>T (p.Leu41=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2967838	NM_003764.4(STX11):c.207C>G (p.Asn69Lys)	STX11 (N69K)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 2955319	NM_003764.4(STX11):c.366G>C (p.Ser122=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2917041	NM_003764.4(STX11):c.624G>A (p.Glu208=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2907724	NM_003764.4(STX11):c.459G>A (p.Gln153=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2899297	NM_003764.4(STX11):c.780G>A (p.Lys260=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2895374	NM_003764.4(STX11):c.93G>A (p.Glu31=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2894140	NM_003764.4(STX11):c.291C>T (p.Gly97=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2890937	NM_003764.4(STX11):c.246C>T (p.Ile82=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2875637	NM_003764.4(STX11):c.336G>A (p.Glu112=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2868550	NM_003764.4(STX11):c.645G>C (p.Leu215=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2864870	NM_003764.4(STX11):c.657C>T (p.Ser219=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2862507	NM_003764.4(STX11):c.57C>T (p.Phe19=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2860807	NM_003764.4(STX11):c.732C>T (p.Val244=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2858456	NM_003764.4(STX11):c.741C>T (p.Leu247=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2848972	NM_003764.4(STX11):c.649C>T (p.Leu217=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2846243	NM_003764.4(STX11):c.384G>C (p.Ser128=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2842231	NM_003764.4(STX11):c.585C>G (p.Ala195=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2842217	NM_003764.4(STX11):c.720C>T (p.Asp240=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2842143	NM_003764.4(STX11):c.174G>C (p.Leu58=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2837845	NM_003764.4(STX11):c.492G>A (p.Gln164=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2837553	NM_003764.4(STX11):c.519G>A (p.Ser173=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2830749	NM_003764.4(STX11):c.858C>A (p.Leu286=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2829742	NM_003764.4(STX11):c.490C>T (p.Gln164Ter)	STX11 (Q164*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic
Select item 2828212	NM_003764.4(STX11):c.172C>T (p.Leu58=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2822541	NM_003764.4(STX11):c.705G>A (p.Val235=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2812463	NM_003764.4(STX11):c.325G>A (p.Glu109Lys)	STX11 (E109K)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 2805143	NM_003764.4(STX11):c.286C>T (p.Arg96Trp)	STX11 (R96W)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 2799650	NM_003764.4(STX11):c.363C>T (p.His121=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2798572	NM_003764.4(STX11):c.111G>C (p.Thr37=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2793119	NM_003764.4(STX11):c.360G>A (p.Pro120=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2792866	NM_003764.4(STX11):c.717C>T (p.Ala239=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2792833	NM_003764.4(STX11):c.756G>A (p.Thr252=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2792832	NM_003764.4(STX11):c.447C>T (p.Ala149=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4 +1 more	GLikely benign
Select item 2788119	NM_003764.4(STX11):c.841T>C (p.Phe281Leu)	STX11 (F281L)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 2786686	NM_003764.4(STX11):c.612C>A (p.Leu204=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2786171	NM_003764.4(STX11):c.570C>G (p.Ser190=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2773100	NM_003764.4(STX11):c.222G>A (p.Thr74=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2771718	NM_003764.4(STX11):c.327G>A (p.Glu109=)	STX11	Single nucleotide variant (synonymous variant)	STX11-related disorder +1 more	GLikely benign
Select item 2771358	NM_003764.4(STX11):c.334G>T (p.Glu112Ter)	STX11 (E112*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic
Select item 2764081	NM_003764.4(STX11):c.204G>A (p.Gln68=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2758051	NM_003764.4(STX11):c.822C>T (p.Pro274=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2754759	NM_003764.4(STX11):c.861G>A (p.Lys287=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2754224	NM_003764.4(STX11):c.594G>A (p.Lys198=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2751598	NM_003764.4(STX11):c.405C>A (p.Leu135=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2744743	NM_003764.4(STX11):c.127_133del (p.Ser43fs)	STX11 (S43fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic
Select item 2729425	NM_003764.4(STX11):c.513A>G (p.Glu171=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2718517	NM_003764.4(STX11):c.267C>T (p.Ile89=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2700539	NM_003764.4(STX11):c.426C>A (p.Ala142=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2679070	NM_003764.4(STX11):c.397_398del (p.Asn133fs)	STX11 (N133fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely pathogenic
Select item 2679069	NM_003764.4(STX11):c.484C>T (p.Gln162Ter)	STX11 (Q162*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic/Likely pathogenic
Select item 2679068	NM_003764.4(STX11):c.73G>T (p.Glu25Ter)	STX11 (E25*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic
Select item 2679067	NM_003764.4(STX11):c.325G>T (p.Glu109Ter)	STX11 (E109*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 4	GLikely pathogenic
Select item 2679066	NM_003764.4(STX11):c.697del (p.Val233fs)	STX11 (V233fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely pathogenic
Select item 2679065	NM_003764.4(STX11):c.551del (p.Gly184fs)	STX11 (G184fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely pathogenic
Select item 2679064	NM_003764.4(STX11):c.807C>A (p.Tyr269Ter)	STX11 (Y269*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 4	GLikely pathogenic
Select item 2679062	NM_003764.4(STX11):c.748C>T (p.Gln250Ter)	STX11 (Q250*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic
Select item 2679061	NM_003764.4(STX11):c.645dup (p.Arg216fs)	STX11 (R216fs)	Duplication (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic/Likely pathogenic
Select item 2679060	NM_003764.4(STX11):c.568dup (p.Ser190fs)	STX11 (S190fs)	Duplication (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely pathogenic
Select item 2431762	NM_003764.4(STX11):c.429G>T (p.Met143Ile)	STX11 (M143I)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 2424710	NC_000006.11:g.(?_142623467)_(144508628_?)del	ADAT2, ADGRG6 +11 more	Deletion	not provided	GPathogenic
Select item 2413214	NM_003764.4(STX11):c.827G>C (p.Arg276Pro)	STX11 (R276P)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 2363849	NM_003764.4(STX11):c.58C>T (p.Pro20Ser)	STX11 (P20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284735	NM_003764.4(STX11):c.466A>T (p.Asn156Tyr)	STX11 (N156Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252659	NM_003764.4(STX11):c.744C>G (p.Asn248Lys)	STX11 (N248K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196294	NM_003764.4(STX11):c.33G>A (p.Leu11=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2190400	NM_003764.4(STX11):c.385C>T (p.Arg129Trp)	STX11 (R129W)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 2184940	NM_003764.4(STX11):c.247A>G (p.Lys83Glu)	STX11 (K83E)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4 +1 more	GConflicting classifications of pathogenicity
Select item 2181259	NM_003764.4(STX11):c.489C>T (p.Arg163=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2177298	NM_003764.4(STX11):c.674A>G (p.His225Arg)	STX11 (H225R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 2176249	NM_003764.4(STX11):c.518C>T (p.Ser173Leu)	STX11 (S173L)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 2173404	NM_003764.4(STX11):c.618G>A (p.Glu206=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2151201	NM_003764.4(STX11):c.630C>T (p.Arg210=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2143163	NM_003764.4(STX11):c.825C>T (p.Cys275=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2124605	NM_003764.4(STX11):c.397A>G (p.Asn133Asp)	STX11 (N133D)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 2117670	NM_003764.4(STX11):c.354C>T (p.His118=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2108700	NM_003764.4(STX11):c.621C>T (p.Ile207=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2101204	NM_003764.4(STX11):c.589G>T (p.Val197Leu)	STX11 (V197L)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 2097300	NM_003764.4(STX11):c.768C>T (p.Thr256=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2090631	NM_003764.4(STX11):c.761A>C (p.Asp254Ala)	STX11 (D254A)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 2088377	NM_003764.4(STX11):c.156G>A (p.Gln52=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2079848	NM_003764.4(STX11):c.440A>C (p.Asn147Thr)	STX11 (N147T)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 2077776	NM_003764.4(STX11):c.120C>T (p.Ile40=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2073572	NM_003764.4(STX11):c.158A>G (p.Asp53Gly)	STX11 (D53G)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 2056993	NM_003764.4(STX11):c.610C>A (p.Leu204Ile)	STX11 (L204I)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance

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