STX11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 153365	GRCh38/hg38 6q24.2(chr6:143618974-144413183)x3	HYMAI, LOC113146422 +45 more	Copy number gain	See cases	GPathogenic
Select item 355595	NM_003764.4(STX11):c.-140C>T	LOC129997366, STX11	Single nucleotide variant (5 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 907821	NM_003764.4(STX11):c.-125C>G	LOC129997366, STX11	Single nucleotide variant (5 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 907822	NM_003764.4(STX11):c.-87C>T	LOC129997366, STX11	Single nucleotide variant (5 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GBenign
Select item 355596	NM_003764.4(STX11):c.-71C>T	LOC129997366, STX11	Single nucleotide variant (5 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GUncertain significance
Select item 1320304	NC_000006.12:g.144176889_144196079del	STX11	Deletion	Familial hemophagocytic lymphohistiocytosis 5	Gnot provided
Select item 5264	NC_000006.12:g.144176889_144196077del	STX11	Deletion	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic
Select item 583514	NC_000006.12:g.(?_144186608)_(144187511_?)del	STX11	Deletion	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic
Select item 1694168	NM_003764.4(STX11):c.-5G>A	STX11	Single nucleotide variant (5 prime UTR variant)	Autoinflammatory syndrome	GUncertain significance
Select item 852209	NM_003764.4(STX11):c.9C>A (p.Asp3Glu)	STX11 (D3E)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 1014652	NM_003764.4(STX11):c.11G>T (p.Arg4Leu)	STX11 (R4L)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4 +1 more	GUncertain significance
Select item 950954	NM_003764.4(STX11):c.11G>A (p.Arg4Gln)	STX11 (R4Q)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 956372	NM_003764.4(STX11):c.13C>T (p.Leu5=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 792145	NM_003764.4(STX11):c.15A>G (p.Leu5=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 1021165	NM_003764.4(STX11):c.17C>T (p.Ala6Val)	STX11 (A6V)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 1402492	NM_003764.4(STX11):c.20A>C (p.Glu7Ala)	STX11 (E7A)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355597	NM_003764.4(STX11):c.24_26del (p.Leu9del)	STX11 (L9del)	Deletion (inframe_deletion)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 643041	NM_003764.4(STX11):c.26T>C (p.Leu9Pro)	STX11 (L9P)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355598	NM_003764.4(STX11):c.26T>G (p.Leu9Arg)	STX11 (L9R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1017926	NM_003764.4(STX11):c.34T>G (p.Ser12Ala)	STX11 (S12A)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 2007100	NM_003764.4(STX11):c.36C>T (p.Ser12=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 1005379	NM_003764.4(STX11):c.46G>A (p.Asp16Asn)	STX11 (D16N)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 1980500	NM_003764.4(STX11):c.51G>A (p.Gln17=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 1365337	NM_003764.4(STX11):c.53A>G (p.Gln18Arg)	STX11 (Q18R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
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 2363849	NM_003764.4(STX11):c.58C>T (p.Pro20Ser)	STX11 (P20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 355599	NM_003764.4(STX11):c.63C>T (p.Asp21=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GConflicting classifications of pathogenicity
Select item 937948	NM_003764.4(STX11):c.64G>C (p.Gly22Arg)	STX11 (G22R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 965427	NM_003764.4(STX11):c.67G>A (p.Asp23Asn)	STX11 (D23N)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
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 1928442	NM_003764.4(STX11):c.76T>A (p.Phe26Ile)	STX11 (F26I)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 1412986	NM_003764.4(STX11):c.83C>A (p.Ser28Ter)	STX11 (S28*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic/Likely pathogenic
Select item 732962	NM_003764.4(STX11):c.83C>T (p.Ser28Leu)	STX11 (S28L)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1967675	NM_003764.4(STX11):c.87C>T (p.Pro29=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 1976379	NM_003764.4(STX11):c.90C>A (p.His30Gln)	STX11 (H30Q)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4 +1 more	GUncertain significance
Select item 735224	NM_003764.4(STX11):c.90C>T (p.His30=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 1962494	NM_003764.4(STX11):c.91G>A (p.Glu31Lys)	STX11 (E31K)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
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 1570186	NM_003764.4(STX11):c.96C>T (p.Asp32=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 1470542	NM_003764.4(STX11):c.97A>G (p.Ile33Val)	STX11 (I33V)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 1694169	NM_003764.4(STX11):c.99C>G (p.Ile33Met)	STX11 (I33M)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1980810	NM_003764.4(STX11):c.100G>A (p.Val34Met)	STX11 (V34M)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 1644342	NM_003764.4(STX11):c.105C>T (p.Phe35=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4 +1 more	GLikely benign
Select item 647479	NM_003764.4(STX11):c.106G>C (p.Glu36Gln)	STX11 (E36Q)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
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 646767	NM_003764.4(STX11):c.114C>A (p.Asp38Glu)	STX11 (D38E)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 1442919	NM_003764.4(STX11):c.115C>T (p.His39Tyr)	STX11 (H39Y)	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 2973886	NM_003764.4(STX11):c.121C>T (p.Leu41=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 1903679	NM_003764.4(STX11):c.122T>C (p.Leu41Pro)	STX11 (L41P)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 2744743	NM_003764.4(STX11):c.127_133del (p.Ser43fs)	STX11 (S43fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 4	GPathogenic
Select item 963615	NM_003764.4(STX11):c.136C>G (p.Arg46Gly)	STX11 (R46G)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 735760	NM_003764.4(STX11):c.141C>T (p.Asp47=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 259161	NM_003764.4(STX11):c.146G>A (p.Arg49Gln)	STX11 (R49Q)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4 +3 more	GBenign/Likely benign
Select item 3240550	NM_003764.4(STX11):c.157_160del (p.Asp53fs)	STX11 (D53fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely pathogenic
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 859503	NM_003764.4(STX11):c.157G>A (p.Asp53Asn)	STX11 (D53N)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
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 964839	NM_003764.4(STX11):c.164A>G (p.Asn55Ser)	STX11 (N55S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
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 97001	NM_003764.4(STX11):c.173T>C (p.Leu58Pro)	STX11 (L58P)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +2 more	GPathogenic
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 2842143	NM_003764.4(STX11):c.174G>C (p.Leu58=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 1055527	NM_003764.4(STX11):c.179C>T (p.Ala60Val)	STX11 (A60V)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
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 1536571	NM_003764.4(STX11):c.180C>T (p.Ala60=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 653917	NM_003764.4(STX11):c.181G>C (p.Asp61His)	STX11 (D61H)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 743978	NM_003764.4(STX11):c.183C>T (p.Asp61=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 1375720	NM_003764.4(STX11):c.184G>A (p.Val62Met)	STX11 (V62M)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 2026801	NM_003764.4(STX11):c.189G>A (p.Lys63=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 2056496	NM_003764.4(STX11):c.191G>A (p.Arg64Gln)	STX11 (R64Q)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 742306	NM_003764.4(STX11):c.193C>T (p.Leu65=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 1381275	NM_003764.4(STX11):c.200A>G (p.Lys67Arg)	STX11 (K67R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
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 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 355600	NM_003764.4(STX11):c.214T>C (p.Phe72Leu)	STX11 (F72L)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 790834	NM_003764.4(STX11):c.221C>T (p.Thr74Met)	STX11 (T74M)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4 +1 more	GConflicting classifications of pathogenicity
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 816676	NM_003764.4(STX11):c.227T>C (p.Met76Thr)	STX11 (M76T)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 904510	NM_003764.4(STX11):c.228G>C (p.Met76Ile)	STX11 (M76I)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4 +1 more	GUncertain significance
Select item 1635293	NM_003764.4(STX11):c.229C>A (p.Arg77=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 763702	NM_003764.4(STX11):c.237C>T (p.Leu79=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
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 1938502	NM_003764.4(STX11):c.243C>T (p.Ser81=)	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 2184940	NM_003764.4(STX11):c.247A>G (p.Lys83Glu)	STX11 (K83E)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1119272	NM_003764.4(STX11):c.255C>T (p.Asp85=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 1160823	NM_003764.4(STX11):c.258C>T (p.Thr86=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 1353929	NM_003764.4(STX11):c.260A>C (p.Asn87Thr)	STX11 (N87T)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355601	NM_003764.4(STX11):c.264C>T (p.Ser88=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GConflicting classifications of pathogenicity
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 1496752	NM_003764.4(STX11):c.268_276del (p.Ala90_Ala92del)	STX11	Deletion (inframe_deletion)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 836507	NM_003764.4(STX11):c.277A>G (p.Ile93Val)	STX11 (I93V)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 576251	NM_003764.4(STX11):c.281A>G (p.Lys94Arg)	STX11 (K94R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4 +1 more	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 1425938	NM_003764.4(STX11):c.289G>C (p.Gly97Arg)	STX11 (G97R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance

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