TYK2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 943

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	LOC130063493, LOC130063494 +116 more	Copy number gain	See cases	GPathogenic
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 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	AP1M2, ATG4D +84 more	Copy number loss	See cases	GLikely pathogenic
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 +1 more	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 2805400	NM_003331.5(TYK2):c.3563G>A (p.Ter1188=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
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 2782758	NM_003331.5(TYK2):c.3558G>T (p.Val1186=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 1448373	NM_003331.5(TYK2):c.3556G>A (p.Val1186Met)	TYK2 (V1185M +11 more)	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 1470660	NM_003331.5(TYK2):c.3544T>C (p.Ser1182Pro)	TYK2 (S1120P +11 more)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 2146135	NM_003331.5(TYK2):c.3543T>G (p.Pro1181=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 1045156	NM_003331.5(TYK2):c.3542C>T (p.Pro1181Leu)	TYK2 (P1115L +11 more)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 2001831	NM_003331.5(TYK2):c.3539C>T (p.Ala1180Val)	TYK2 (A1130V +11 more)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 860773	NM_003331.5(TYK2):c.3532G>A (p.Gly1178Ser)	TYK2 (G1178S)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 890157	NM_003331.5(TYK2):c.3525G>A (p.Lys1175=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GUncertain significance
Select item 1497952	NM_003331.5(TYK2):c.3520G>A (p.Glu1174Lys)	TYK2 (E1112K +11 more)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 1925688	NM_003331.5(TYK2):c.3507G>A (p.Leu1169=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 733191	NM_003331.5(TYK2):c.3489G>A (p.Glu1163=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
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 890158	NM_003331.5(TYK2):c.3487G>A (p.Glu1163Lys)	TYK2 (E1163K)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 2196632	NM_003331.5(TYK2):c.3486C>T (p.Phe1162=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 1511132	NM_003331.5(TYK2):c.3481A>G (p.Thr1161Ala)	TYK2 (T1095A +11 more)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 577757	NM_003331.5(TYK2):c.3475C>A (p.Arg1159Ser)	TYK2 (R1159S)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 2016932	NM_003331.5(TYK2):c.3430-5T>C	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2195696	NM_003331.5(TYK2):c.3430-20G>C	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 1574668	NM_003331.5(TYK2):c.3429+20T>C	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 3000661	NM_003331.5(TYK2):c.3429+7C>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2710520	NM_003331.5(TYK2):c.3429+7C>G	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 1371501	NM_003331.5(TYK2):c.3418T>A (p.Cys1140Ser)	TYK2 (C1139S +10 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 1134216	NM_003331.5(TYK2):c.3411C>T (p.Pro1137=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 35	GLikely benign
Select item 1461021	NM_003331.5(TYK2):c.3407G>A (p.Arg1136Gln)	TYK2 (R1074Q +10 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 2386692	NM_003331.5(TYK2):c.3406C>T (p.Arg1136Trp)	TYK2 (R1070W +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1895527	NM_003331.5(TYK2):c.3389G>A (p.Arg1130Gln)	TYK2 (R1080Q +10 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 1466635	NM_003331.5(TYK2):c.3388C>G (p.Arg1130Gly)	TYK2 (R1080G +10 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 427123	NM_003331.5(TYK2):c.3388C>T (p.Arg1130Ter)	TYK2 (R1130*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1438729	NM_003331.5(TYK2):c.3386A>G (p.Glu1129Gly)	TYK2 (E1123G +10 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 1396744	NM_003331.5(TYK2):c.3385G>C (p.Glu1129Gln)	TYK2 (E1099Q +10 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 1904522	NM_003331.5(TYK2):c.3384G>A (p.Leu1128=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 1625330	NM_003331.5(TYK2):c.3372C>G (p.Leu1124=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 35	GLikely benign
Select item 1026674	NM_003331.5(TYK2):c.3359C>G (p.Thr1120Arg)	TYK2 (T1054R +10 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 1358821	NM_003331.5(TYK2):c.3349G>T (p.Gly1117Cys)	TYK2 (G1067C +10 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 2500107	NM_003331.5(TYK2):c.3331C>T (p.Leu1111Phe)	TYK2 (L1045F +10 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
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 1376618	NM_003331.5(TYK2):c.3326T>G (p.Leu1109Arg)	TYK2 (L1109R +10 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1517890	NM_003331.5(TYK2):c.3325C>T (p.Leu1109Phe)	TYK2 (L1047F +10 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
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 1615800	NM_003331.5(TYK2):c.3318+17C>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 835520	NM_003331.5(TYK2):c.3318+6A>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GUncertain significance
Select item 2790844	NM_003331.5(TYK2):c.3318+5G>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GUncertain significance
Select item 2140860	NM_003331.5(TYK2):c.3318G>T (p.Thr1106=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 791687	NM_003331.5(TYK2):c.3315C>G (p.Pro1105=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 744233	NM_003331.5(TYK2):c.3315C>A (p.Pro1105=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 3185238	NM_003331.5(TYK2):c.3314C>G (p.Pro1105Arg)	TYK2 (P1063R +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2013396	NM_003331.5(TYK2):c.3313C>G (p.Pro1105Ala)	TYK2 (P1077A +9 more)	Single nucleotide variant (intron variant +1 more)	Immunodeficiency 35	GUncertain significance
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 2148504	NM_003331.5(TYK2):c.3308G>C (p.Ser1103Thr)	TYK2 (S1041T +9 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 967971	NM_003331.5(TYK2):c.3307A>G (p.Ser1103Gly)	TYK2 (S1103G)	Single nucleotide variant (missense variant)	Immunodeficiency 35	GUncertain significance
Select item 2055976	NM_003331.5(TYK2):c.3290A>G (p.His1097Arg)	TYK2 (H1091R +9 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 1135798	NM_003331.5(TYK2):c.3280C>T (p.Leu1094=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 35	GLikely benign
Select item 1580375	NM_003331.5(TYK2):c.3279G>A (p.Glu1093=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 35	GLikely benign
Select item 1556145	NM_003331.5(TYK2):c.3270C>G (p.Thr1090=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 35	GLikely benign
Select item 468763	NM_003331.5(TYK2):c.3261C>T (p.Phe1087=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35	GLikely benign
Select item 1125446	NM_003331.5(TYK2):c.3252C>A (p.Val1084=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 35	GLikely benign
Select item 1470496	NM_003331.5(TYK2):c.3242C>G (p.Ala1081Gly)	TYK2 (A1039G +9 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
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 3029253	NM_003331.5(TYK2):c.3237C>T (p.Tyr1079=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	TYK2-related disorder	GLikely benign
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 1955842	NM_003331.5(TYK2):c.3227A>G (p.Tyr1076Cys)	TYK2 (Y1048C +9 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 1533429	NM_003331.5(TYK2):c.3222G>A (p.Lys1074=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency 35	GLikely benign
Select item 1971135	NM_003331.5(TYK2):c.3215G>T (p.Cys1072Phe)	TYK2 (C1010F +9 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 35	GUncertain significance
Select item 1533361	NM_003331.5(TYK2):c.3201-5C>G	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
Select item 3002298	NM_003331.5(TYK2):c.3201-6C>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely 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 1588918	NM_003331.5(TYK2):c.3201-10dup	TYK2	Duplication (intron variant)	Immunodeficiency 35	GLikely benign
Select item 1570204	NM_003331.5(TYK2):c.3201-11_3201-10dup	TYK2	Duplication (intron variant)	Immunodeficiency 35	GLikely benign
Select item 2829607	NM_003331.5(TYK2):c.3201-11C>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign
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 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 1369114	NM_003331.5(TYK2):c.3200+13G>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GUncertain significance
Select item 890736	NM_003331.5(TYK2):c.3200+11G>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GUncertain significance
Select item 1580826	NM_003331.5(TYK2):c.3200+9G>A	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35	GLikely benign

<< First< Prev

Page of 10