C1969086[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 327931	NM_003331.4(TYK2):c.*302C>T	TYK2	Single nucleotide variant	Immunodeficiency 35	GUncertain significance
Select item 891931	NM_003331.5(TYK2):c.*291T>C	TYK2	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 35	GUncertain significance
Select item 891932	NM_003331.5(TYK2):c.*261C>A	TYK2	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 35	GUncertain significance
Select item 891933	NM_003331.5(TYK2):c.*260C>T	TYK2	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 35	GUncertain significance
Select item 327932	NM_003331.5(TYK2):c.*199A>G	TYK2	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 35 +1 more	GLikely benign
Select item 889484	NM_003331.5(TYK2):c.*174G>A	TYK2	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 35	GUncertain significance
Select item 889485	NM_003331.5(TYK2):c.*173C>T	TYK2	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 35	GUncertain significance
Select item 889486	NM_003331.5(TYK2):c.*146T>A	TYK2	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 35	GBenign
Select item 327933	NM_003331.5(TYK2):c.*134A>G	TYK2	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 35 +1 more	GBenign
Select item 889487	NM_003331.5(TYK2):c.*120C>T	TYK2	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 35	GUncertain significance
Select item 889488	NM_003331.5(TYK2):c.*63G>A	TYK2	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 35	GUncertain significance
Select item 889489	NM_003331.5(TYK2):c.*19C>T	TYK2	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 35	GBenign
Select item 536641	NM_003331.5(TYK2):c.3560G>A (p.Cys1187Tyr)	TYK2 (C1187Y)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 714006	NM_003331.5(TYK2):c.3555C>T (p.Ser1185=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity
Select item 890157	NM_003331.5(TYK2):c.3525G>A (p.Lys1175=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GUncertain significance
Select item 468764	NM_003331.5(TYK2):c.3488A>G (p.Glu1163Gly)	TYK2 (E1163G)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 890158	NM_003331.5(TYK2):c.3487G>A (p.Glu1163Lys)	TYK2 (E1163K)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 380662	NM_003331.5(TYK2):c.3330G>A (p.Glu1110=)	TYK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 137869	NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala)	TYK2 (P1104A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 327934	NM_003331.5(TYK2):c.3239A>G (p.Tyr1080Cys)	TYK2 (Y1080C)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 890159	NM_003331.5(TYK2):c.3236A>G (p.Tyr1079Cys)	TYK2 (Y1079C)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 259044	NM_003331.5(TYK2):c.3201-8C>T	TYK2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 890735	NM_003331.5(TYK2):c.3201-15C>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity
Select item 890736	NM_003331.5(TYK2):c.3200+11G>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GUncertain significance
Select item 509210	NM_003331.5(TYK2):c.3200+3G>A	TYK2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 327935	NM_003331.5(TYK2):c.2985C>T (p.Ile995=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity
Select item 287098	NM_003331.5(TYK2):c.2783C>T (p.Ala928Val)	TYK2 (A928V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 716686	NM_003331.5(TYK2):c.2716-4C>G	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GBenign
Select item 327936	NM_003331.5(TYK2):c.2716-10T>G	TYK2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 891974	NM_003331.5(TYK2):c.2716-13C>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GUncertain significance
Select item 327937	NM_003331.5(TYK2):c.2715+9C>T	TYK2	Single nucleotide variant (intron variant)	TYK2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 645003	NM_003331.5(TYK2):c.2687A>G (p.Tyr896Cys)	TYK2 (Y896C)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 381269	NM_003331.5(TYK2):c.2670G>C (p.Thr890=)	TYK2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 327938	NM_003331.5(TYK2):c.2658G>A (p.Ala886=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity
Select item 517816	NM_003331.5(TYK2):c.2646G>C (p.Pro882=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35 +1 more	GConflicting classifications of pathogenicity
Select item 327939	NM_003331.5(TYK2):c.2618-14C>G	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity
Select item 891975	NM_003331.5(TYK2):c.2558C>G (p.Pro853Arg)	TYK2 (P853R)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 536652	NM_003331.5(TYK2):c.2459C>A (p.Pro820His)	TYK2 (P820H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 327940	NM_003331.5(TYK2):c.2441C>T (p.Pro814Leu)	TYK2 (P814L)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 889545	NM_003331.5(TYK2):c.2370C>T (p.Ser790=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GUncertain significance
Select item 137868	NM_003331.5(TYK2):c.2311+11G>C	TYK2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 378840	NM_003331.5(TYK2):c.2250C>T (p.Gly750=)	TYK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 889546	NM_003331.5(TYK2):c.2197G>A (p.Gly733Ser)	TYK2 (G733S)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 889547	NM_003331.5(TYK2):c.2176-9C>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity
Select item 327941	NM_003331.5(TYK2):c.2124G>A (p.Met708Ile)	TYK2 (M708I)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 327942	NM_003331.5(TYK2):c.2107C>T (p.Arg703Trp)	TYK2 (R703W)	Single nucleotide variant (missense variant)	Immunodeficiency 35 +1 more	GBenign
Select item 738010	NM_003331.5(TYK2):c.2102G>C (p.Arg701Thr)	TYK2 (R701T)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity
Select item 259043	NM_003331.5(TYK2):c.2051T>G (p.Ile684Ser)	TYK2 (I684S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 890204	NM_003331.5(TYK2):c.2038G>A (p.Gly680Ser)	TYK2 (G680S)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 838178	NM_003331.5(TYK2):c.2036G>C (p.Arg679Pro)	TYK2 (R679P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 890205	NM_003331.5(TYK2):c.2023G>A (p.Gly675Ser)	TYK2 (G675S)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 327943	NM_003331.5(TYK2):c.2017G>T (p.Val673Leu)	TYK2 (V673L)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 890206	NM_003331.5(TYK2):c.1968C>T (p.Tyr656=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity
Select item 378839	NM_003331.5(TYK2):c.1960-15G>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35 +1 more	GBenign/Likely benign
Select item 259042	NM_003331.5(TYK2):c.1953C>T (p.Ile651=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35 +2 more	GBenign
Select item 327944	NM_003331.5(TYK2):c.1869C>T (p.Asp623=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity
Select item 890778	NM_003331.5(TYK2):c.1851G>A (p.Glu617=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GUncertain significance
Select item 327945	NM_003331.5(TYK2):c.1848T>G (p.Pro616=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35 +1 more	GBenign
Select item 890779	NM_003331.5(TYK2):c.1839C>T (p.Ser613=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity
Select item 327946	NM_003331.5(TYK2):c.1807G>A (p.Val603Met)	TYK2 (V603M)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 327947	NM_003331.5(TYK2):c.1806C>T (p.Asn602=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity
Select item 137866	NM_003331.5(TYK2):c.1774-4G>C	TYK2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 892018	NM_003331.5(TYK2):c.1669+12G>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GUncertain significance
Select item 259041	NM_003331.5(TYK2):c.1669+7T>C	TYK2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 892019	NM_003331.5(TYK2):c.1576G>A (p.Val526Ile)	TYK2 (V526I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 327948	NM_003331.5(TYK2):c.1559G>A (p.Gly520Asp)	TYK2 (G520D)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 327949	NM_003331.5(TYK2):c.1534G>A (p.Gly512Arg)	TYK2 (G512R)	Single nucleotide variant (missense variant)	TYK2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 892020	NM_003331.5(TYK2):c.1489A>C (p.Met497Leu)	TYK2 (M497L)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 137865	NM_003331.5(TYK2):c.1477-6T>C	TYK2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 666127	NM_003331.5(TYK2):c.1469G>A (p.Arg490His)	TYK2 (R490H)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 889611	NM_003331.5(TYK2):c.1444C>T (p.Arg482Cys)	TYK2 (R482C)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 736809	NM_003331.5(TYK2):c.1398C>T (p.Pro466=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity
Select item 580559	NM_003331.5(TYK2):c.1342C>T (p.Arg448Trp)	TYK2 (R448W)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 889612	NM_003331.5(TYK2):c.1254G>A (p.Ser418=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity
Select item 327950	NM_003331.5(TYK2):c.1141C>T (p.Arg381Trp)	TYK2 (R381W)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity
Select item 889613	NM_003331.5(TYK2):c.1108C>T (p.Arg370Trp)	TYK2 (R370W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 137864	NM_003331.5(TYK2):c.1087G>A (p.Gly363Ser)	TYK2 (G363S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 259040	NM_003331.5(TYK2):c.1084G>T (p.Val362Phe)	TYK2 (V362F)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 389612	NM_003331.5(TYK2):c.1011+12G>A	TYK2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 327951	NM_003331.5(TYK2):c.1000A>G (p.Asn334Asp)	TYK2 (N334D)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 890256	NM_003331.5(TYK2):c.975G>T (p.Gln325His)	TYK2 (Q325H)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 327952	NM_003331.5(TYK2):c.942C>T (p.His314=)	TYK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 327953	NM_003331.5(TYK2):c.879C>T (p.Ile293=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity
Select item 890257	NM_003331.5(TYK2):c.829G>A (p.Val277Met)	TYK2 (V277M)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 536649	NM_003331.5(TYK2):c.783C>G (p.Ala261=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity
Select item 327954	NM_003331.5(TYK2):c.737A>G (p.Gln246Arg)	TYK2 (Q246R)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 890826	NM_003331.5(TYK2):c.727C>T (p.Arg243Trp)	TYK2 (R243W)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 662089	NM_003331.5(TYK2):c.670C>T (p.Arg224Trp)	TYK2 (R224W)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 327955	NM_003331.5(TYK2):c.661C>T (p.Arg221Trp)	TYK2 (R221W)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 788263	NM_003331.5(TYK2):c.648G>A (p.Pro216=)	TYK2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 327956	NM_003331.5(TYK2):c.630-3C>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GUncertain significance
Select item 327957	NM_003331.5(TYK2):c.602C>T (p.Pro201Leu)	TYK2 (P201L)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 327958	NM_003331.5(TYK2):c.590G>A (p.Arg197His)	TYK2 (R197H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 571990	NM_003331.5(TYK2):c.589C>T (p.Arg197Cys)	TYK2 (R197C)	Single nucleotide variant (missense variant)	Immunodeficiency 35 +1 more	GUncertain significance
Select item 137863	NM_003331.5(TYK2):c.516C>T (p.Thr172=)	TYK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 327959	NM_003331.5(TYK2):c.513G>A (p.Ser171=)	TYK2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 892064	NM_003331.5(TYK2):c.505G>A (p.Glu169Lys)	TYK2 (E169K)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 892065	NM_003331.5(TYK2):c.498A>G (p.Ser166=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GUncertain significance
Select item 892066	NM_003331.5(TYK2):c.493G>A (p.Ala165Thr)	TYK2 (A165T)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 712898	NM_003331.5(TYK2):c.489C>T (p.Asp163=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GConflicting classifications of pathogenicity

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