C1863728[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 355597	NM_003764.4(STX11):c.24_26del (p.Leu9del)	STX11 (L9del)	Deletion (inframe_deletion)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 355598	NM_003764.4(STX11):c.26T>G (p.Leu9Arg)	STX11 (L9R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 259161	NM_003764.4(STX11):c.146G>A (p.Arg49Gln)	STX11 (R49Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely 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 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 +2 more	GConflicting classifications of pathogenicity
Select item 904510	NM_003764.4(STX11):c.228G>C (p.Met76Ile)	STX11 (M76I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 355602	NM_003764.4(STX11):c.427A>G (p.Met143Val)	STX11 (M143V)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 259162	NM_003764.4(STX11):c.546G>A (p.Glu182=)	STX11	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 904511	NM_003764.4(STX11):c.570C>T (p.Ser190=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GConflicting classifications of pathogenicity
Select item 355603	NM_003764.4(STX11):c.585C>A (p.Ala195=)	STX11	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 4	GConflicting classifications of pathogenicity
Select item 355604	NM_003764.4(STX11):c.589G>A (p.Val197Met)	STX11 (V197M)	Single nucleotide variant (missense variant)	STX11-related condition +3 more	GConflicting classifications of pathogenicity
Select item 904512	NM_003764.4(STX11):c.614A>G (p.Asn205Ser)	STX11 (N205S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 403500	NM_003764.4(STX11):c.616G>A (p.Glu206Lys)	STX11 (E206K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 905298	NM_003764.4(STX11):c.634C>T (p.Arg212Cys)	STX11 (R212C)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 647365	NM_003764.4(STX11):c.659G>T (p.Arg220Leu)	STX11 (R220L)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 791755	NM_003764.4(STX11):c.681C>T (p.Leu227=)	STX11	Single nucleotide variant (synonymous variant)	STX11-related condition +1 more	GConflicting classifications of pathogenicity
Select item 259163	NM_003764.4(STX11):c.799G>A (p.Val267Met)	STX11 (V267M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 259164	NM_003764.4(STX11):c.829A>G (p.Thr277Ala)	STX11 (T277A)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GBenign
Select item 536231	NM_003764.4(STX11):c.839G>A (p.Cys280Tyr)	STX11 (C280Y)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 4 +1 more	GConflicting classifications of pathogenicity
Select item 355605	NM_003764.4(STX11):c.*2A>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 905299	NM_003764.4(STX11):c.*37A>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355606	NM_003764.4(STX11):c.*70G>A	STX11	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 355607	NM_003764.4(STX11):c.*179A>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 906900	NM_003764.4(STX11):c.*295G>A	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 906901	NM_003764.4(STX11):c.*390T>C	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 906902	NM_003764.4(STX11):c.*428T>C	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 906903	NM_003764.4(STX11):c.*549C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355608	NM_003764.4(STX11):c.*606C>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GBenign
Select item 355609	NM_003764.4(STX11):c.*700C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 907886	NM_003764.4(STX11):c.*775G>A	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 907887	NM_003764.4(STX11):c.*806A>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355611	NM_003764.4(STX11):c.*882T>C	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GBenign
Select item 907888	NM_003764.4(STX11):c.*893G>A	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355613	NM_003764.4(STX11):c.*993C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 907889	NM_003764.4(STX11):c.*1028C>A	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355614	NM_003764.4(STX11):c.*1046C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355615	NM_003764.4(STX11):c.*1141T>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 904578	NM_003764.4(STX11):c.*1150A>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GBenign
Select item 904579	NM_003764.4(STX11):c.*1213T>C	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355620	NM_003764.4(STX11):c.*1335G>A	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GBenign
Select item 355621	NM_003764.4(STX11):c.*1338C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 904580	NM_003764.4(STX11):c.*1339G>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 904581	NM_003764.4(STX11):c.*1421A>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355622	NM_003764.4(STX11):c.*1425C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 905365	NM_003764.4(STX11):c.*1426G>A	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 905366	NM_003764.4(STX11):c.*1428T>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355623	NM_003764.4(STX11):c.*1463C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 905367	NM_003764.4(STX11):c.*1469T>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 905368	NM_003764.4(STX11):c.*1477C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 905369	NM_003764.4(STX11):c.*1514T>C	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355624	NM_003764.4(STX11):c.*1521C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355625	NM_003764.4(STX11):c.*1525A>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GBenign
Select item 355627	NM_003764.4(STX11):c.*1542C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355628	NM_003764.4(STX11):c.*1571C>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355629	NM_003764.4(STX11):c.*1692C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 906976	NM_003764.4(STX11):c.*1704G>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355630	NM_003764.4(STX11):c.*1793A>C	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GBenign
Select item 355631	NM_003764.4(STX11):c.*1825C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 906977	NM_003764.4(STX11):c.*1832A>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 906978	NM_003764.4(STX11):c.*1845C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 907950	NM_003764.4(STX11):c.*1846T>C	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 907951	NM_003764.4(STX11):c.*2006T>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355634	NM_003764.4(STX11):c.*2216A>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 907952	NM_003764.4(STX11):c.*2252T>C	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355635	NM_003764.4(STX11):c.*2298C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GBenign
Select item 907953	NM_003764.4(STX11):c.*2378A>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355636	NM_003764.4(STX11):c.*2389G>A	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 907954	NM_003764.4(STX11):c.*2517G>A	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 904646	NM_003764.4(STX11):c.*2569C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355637	NM_003764.4(STX11):c.*2592C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 904647	NM_003764.4(STX11):c.*2665C>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 904648	NM_003764.4(STX11):c.*2695G>A	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 904649	NM_003764.4(STX11):c.*2700G>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 904650	NM_003764.4(STX11):c.*2709T>C	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 904651	NM_003764.4(STX11):c.*2758T>A	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355639	NM_003764.4(STX11):c.*2786T>C	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GBenign
Select item 355640	NM_003764.4(STX11):c.*2816C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 905436	NM_003764.4(STX11):c.*2899C>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355641	NM_003764.4(STX11):c.*2920T>C	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355642	NM_003764.4(STX11):c.*2982T>A	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 905437	NM_003764.4(STX11):c.*3214C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355647	NM_003764.4(STX11):c.*3214C>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GBenign
Select item 355648	NM_003764.4(STX11):c.*3277C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355649	NM_003764.4(STX11):c.*3298T>A	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 355651	NM_003764.4(STX11):c.*3345T>C	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GBenign
Select item 905953	NM_003764.4(STX11):c.*3347C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 905954	NM_003764.4(STX11):c.*3418C>A	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 905955	NM_003764.4(STX11):c.*3591C>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355652	NM_003764.4(STX11):c.*3599A>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GBenign
Select item 355653	NM_003764.4(STX11):c.*3670C>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GLikely benign
Select item 905956	NM_003764.4(STX11):c.*3690A>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355654	NM_003764.4(STX11):c.*3705C>G	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance
Select item 355655	NM_003764.4(STX11):c.*3749T>C	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GBenign
Select item 355656	NM_003764.4(STX11):c.*3761G>A	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 4	GUncertain significance

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