"GeneDx"[submitter] AND "TYK2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
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 327933	NM_003331.5(TYK2):c.*134A>G	TYK2	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency 35 +1 more	GBenign
Select item 468764	NM_003331.5(TYK2):c.3488A>G (p.Glu1163Gly)	TYK2 (E1163G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 427123	NM_003331.5(TYK2):c.3388C>T (p.Arg1130Ter)	TYK2 (R1130*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 380662	NM_003331.5(TYK2):c.3330G>A (p.Glu1110=)	TYK2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 679000	NM_003331.5(TYK2):c.3318+196T>A	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221091	NM_003331.5(TYK2):c.3318+150C>G	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 137869	NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala)	TYK2 (P1104A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 259044	NM_003331.5(TYK2):c.3201-8C>T	TYK2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1191262	NM_003331.5(TYK2):c.3201-81C>T	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216086	NM_003331.5(TYK2):c.3201-162_3201-147del	TYK2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 677748	NM_003331.5(TYK2):c.3201-177G>T	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673301	NM_003331.5(TYK2):c.3200+122G>C	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326427	NM_003331.5(TYK2):c.3200+23G>C	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1224627	NM_003331.5(TYK2):c.3027+194C>A	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204768	NM_003331.5(TYK2):c.3027+66G>C	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677761	NM_003331.5(TYK2):c.2909-152T>C	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192061	NM_003331.5(TYK2):c.2908+178G>A	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677760	NM_003331.5(TYK2):c.2908+156C>A	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675230	NM_003331.5(TYK2):c.2908+44T>C	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673300	NM_003331.5(TYK2):c.2908+31T>C	TYK2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 327936	NM_003331.5(TYK2):c.2716-10T>G	TYK2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1189391	NM_003331.5(TYK2):c.2716-39T>C	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203211	NM_003331.5(TYK2):c.2716-55G>C	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676083	NM_003331.5(TYK2):c.2716-61G>T	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212547	NM_003331.5(TYK2):c.2716-128G>A	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 381269	NM_003331.5(TYK2):c.2670G>C (p.Thr890=)	TYK2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 517816	NM_003331.5(TYK2):c.2646G>C (p.Pro882=)	TYK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1253702	NM_003331.5(TYK2):c.2617+257C>T	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255082	NM_003331.5(TYK2):c.2617+211A>G	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232841	NM_003331.5(TYK2):c.2617+206C>G	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263763	NM_003331.5(TYK2):c.2617+82G>T	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508243	NM_003331.5(TYK2):c.2617+13C>T	TYK2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 373349	NM_003331.5(TYK2):c.2494C>T (p.Arg832Trp)	TYK2 (R832W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1252310	NM_003331.5(TYK2):c.2467-48del	TYK2	Deletion (intron variant)	not provided	GBenign
Select item 1292802	NM_003331.5(TYK2):c.2467-154C>T	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677727	NM_003331.5(TYK2):c.2467-171G>A	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673687	NM_003331.5(TYK2):c.2467-270G>A	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 536652	NM_003331.5(TYK2):c.2459C>A (p.Pro820His)	TYK2 (P820H)	Single nucleotide variant (missense variant)	Immunodeficiency 35 +1 more	GBenign/Likely benign
Select item 426165	NM_003331.5(TYK2):c.2314C>T (p.Arg772Trp)	TYK2 (R772W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 386946	NM_003331.5(TYK2):c.2312-4C>G	TYK2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1170396	NM_003331.5(TYK2):c.2311+16G>C	TYK2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 137868	NM_003331.5(TYK2):c.2311+11G>C	TYK2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 385193	NM_003331.5(TYK2):c.2286G>A (p.Val762=)	TYK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 378840	NM_003331.5(TYK2):c.2250C>T (p.Gly750=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35 +1 more	GConflicting classifications of pathogenicity
Select item 137867	NM_003331.5(TYK2):c.2176-18C>G	TYK2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1189952	NM_003331.5(TYK2):c.2176-156dup	TYK2	Duplication (intron variant)	not provided	GLikely benign
Select item 1193646	NM_003331.5(TYK2):c.2176-157A>C	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675229	NM_003331.5(TYK2):c.2176-296A>G	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198361	NM_003331.5(TYK2):c.2175+188G>A	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675228	NM_003331.5(TYK2):c.2175+152T>C	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273958	NM_003331.5(TYK2):c.2175+100GTTT[3]	TYK2	Microsatellite (intron variant)	not specified +1 more	GBenign
Select item 675227	NM_003331.5(TYK2):c.2175+95T>C	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 327942	NM_003331.5(TYK2):c.2107C>T (p.Arg703Trp)	TYK2 (R703W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1054606	NM_003331.5(TYK2):c.2099G>A (p.Arg700Gln)	TYK2 (R634Q +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 259043	NM_003331.5(TYK2):c.2051T>G (p.Ile684Ser)	TYK2 (I684S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 669676	NM_003331.5(TYK2):c.2048-315T>C	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287148	NM_003331.5(TYK2):c.2047+210C>T	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676395	NM_003331.5(TYK2):c.2047+107A>G	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202440	NM_003331.5(TYK2):c.2047+27C>T	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 639339	NM_003331.5(TYK2):c.2026G>A (p.Val676Ile)	TYK2 (V676I)	Single nucleotide variant (missense variant)	Immunodeficiency 35 +1 more	GUncertain significance
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 1208197	NM_003331.5(TYK2):c.1959+25G>A	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely 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 327945	NM_003331.5(TYK2):c.1848T>G (p.Pro616=)	TYK2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 137866	NM_003331.5(TYK2):c.1774-4G>C	TYK2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 390624	NM_003331.5(TYK2):c.1670-19A>G	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35 +1 more	GBenign/Likely benign
Select item 514378	NM_003331.5(TYK2):c.1669+10T>C	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35 +1 more	GLikely benign
Select item 259041	NM_003331.5(TYK2):c.1669+7T>C	TYK2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 449613	NM_003331.5(TYK2):c.1579C>G (p.Arg527Gly)	TYK2 (R527G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 327949	NM_003331.5(TYK2):c.1534G>A (p.Gly512Arg)	TYK2 (G512R)	Single nucleotide variant (missense variant)	TYK2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 137865	NM_003331.5(TYK2):c.1477-6T>C	TYK2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 426166	NM_003331.5(TYK2):c.1444C>G (p.Arg482Gly)	TYK2 (R482G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 673299	NM_003331.5(TYK2):c.1368-59C>T	TYK2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 677150	NM_003331.5(TYK2):c.1368-237A>C	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669673	NM_003331.5(TYK2):c.1368-331_1368-324del	TYK2	Deletion (intron variant)	not provided	GBenign
Select item 677734	NM_003331.5(TYK2):c.1367+185C>T	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 430205	NM_003331.5(TYK2):c.1106C>T (p.Pro369Leu)	TYK2 (P369L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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 provided +2 more	GBenign
Select item 259040	NM_003331.5(TYK2):c.1084G>T (p.Val362Phe)	TYK2 (V362F)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1257593	NM_003331.5(TYK2):c.1012-36C>T	TYK2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1214898	NM_003331.5(TYK2):c.1012-204T>C	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243208	NM_003331.5(TYK2):c.1011+222A>T	TYK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194836	NM_003331.5(TYK2):c.1011+21G>A	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 389797	NM_003331.5(TYK2):c.1011+20C>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35 +1 more	GLikely benign
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 327952	NM_003331.5(TYK2):c.942C>T (p.His314=)	TYK2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1699875	NM_003331.5(TYK2):c.806G>T (p.Arg269Leu)	TYK2 (R239L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451636	NM_003331.5(TYK2):c.805C>T (p.Arg269Cys)	TYK2 (R269C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 390383	NM_003331.5(TYK2):c.708C>T (p.Asn236=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35 +1 more	GLikely benign
Select item 327955	NM_003331.5(TYK2):c.661C>T (p.Arg221Trp)	TYK2 (R221W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1314604	NM_003331.5(TYK2):c.650G>A (p.Arg217His)	TYK2 (R217H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 513488	NM_003331.5(TYK2):c.639C>T (p.Asp213=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35 +1 more	GLikely benign
Select item 515202	NM_003331.5(TYK2):c.630-12G>A	TYK2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1326125	NM_003331.5(TYK2):c.630-212G>A	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192021	NM_003331.5(TYK2):c.630-225A>G	TYK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249885	NM_003331.5(TYK2):c.629+97dup	TYK2	Duplication (intron variant)	not provided	GBenign

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