JAK1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 2629421	NM_002227.4(JAK1):c.*3A>C	JAK1	Single nucleotide variant (3 prime UTR variant)	JAK1-related disorder	GUncertain significance
Select item 134547	NM_002227.4(JAK1):c.3463T>C (p.Ter1155Gln)	JAK1	Single nucleotide variant (stop lost)	not provided	GLikely benign
Select item 1367133	NM_002227.4(JAK1):c.3462A>T (p.Lys1154Asn)	JAK1 (K1154N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962784	NM_002227.4(JAK1):c.3413A>G (p.Asn1138Ser)	JAK1 (N1137S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1568224	NM_002227.4(JAK1):c.3405A>G (p.Gln1135=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3112145	NM_002227.4(JAK1):c.3402C>G (p.Phe1134Leu)	JAK1 (F1134L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1389319	NM_002227.4(JAK1):c.3398A>G (p.Glu1133Gly)	JAK1 (E1132G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740564	NM_002227.4(JAK1):c.3378A>G (p.Gln1126=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1982261	NM_002227.4(JAK1):c.3372T>G (p.Val1124=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088371	NM_002227.4(JAK1):c.3370-14C>T	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959779	NM_002227.4(JAK1):c.3370-15T>C	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657059	NM_002227.4(JAK1):c.3369+16G>A	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542127	NM_002227.4(JAK1):c.3369+15C>T	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907833	NM_002227.4(JAK1):c.3369+13C>T	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778987	NM_002227.4(JAK1):c.3369+4T>C	JAK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2081073	NM_002227.4(JAK1):c.3369+4T>G	JAK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2064977	NM_002227.4(JAK1):c.3361C>T (p.Pro1121Ser)	JAK1 (P1120S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1391438	NM_002227.4(JAK1):c.3361C>G (p.Pro1121Ala)	JAK1 (P1120A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770761	NM_002227.4(JAK1):c.3355A>G (p.Asn1119Asp)	JAK1 (N1119D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004244	NM_002227.4(JAK1):c.3348C>T (p.Cys1116=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1469780	NM_002227.4(JAK1):c.3347G>A (p.Cys1116Tyr)	JAK1 (C1115Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131356	NM_002227.4(JAK1):c.3345G>T (p.Pro1115=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1553106	NM_002227.4(JAK1):c.3345G>A (p.Pro1115=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1401426	NM_002227.4(JAK1):c.3344C>T (p.Pro1115Leu)	JAK1 (P1114L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1509416	NM_002227.4(JAK1):c.3343C>T (p.Pro1115Ser)	JAK1 (P1114S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678022	NM_002227.4(JAK1):c.3338G>A (p.Arg1113His)	JAK1 (R1112H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473323	NM_002227.4(JAK1):c.3337C>T (p.Arg1113Cys)	JAK1 (R1112C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1616104	NM_002227.4(JAK1):c.3321G>A (p.Thr1107=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1517280	NM_002227.4(JAK1):c.3320C>T (p.Thr1107Met)	JAK1 (T1106M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2783877	NM_002227.4(JAK1):c.3319A>T (p.Thr1107Ser)	JAK1 (T1107S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965949	NM_002227.4(JAK1):c.3317A>C (p.Asn1106Thr)	JAK1 (N1105T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3287133	NM_002227.4(JAK1):c.3310C>A (p.Leu1104Ile)	JAK1 (L1104I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1488494	NM_002227.4(JAK1):c.3289G>T (p.Gly1097Cys)	JAK1 (G1096C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471536	NM_002227.4(JAK1):c.3259-3T>C	JAK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2628298	NM_002227.4(JAK1):c.3259-49T>C	JAK1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688493	NM_002227.4(JAK1):c.3258+112G>T	JAK1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2122751	NM_002227.4(JAK1):c.3258+15dup	JAK1	Duplication (intron variant)	not provided	GBenign
Select item 1165676	NM_002227.4(JAK1):c.3258+16C>A	JAK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2971222	NM_002227.4(JAK1):c.3258+11C>G	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915845	NM_002227.4(JAK1):c.3258+8C>T	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285151	NM_002227.4(JAK1):c.3258+7C>T	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2080909	NM_002227.4(JAK1):c.3249T>C (p.Ser1083=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012133	NM_002227.4(JAK1):c.3231C>T (p.Tyr1077=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2031499	NM_002227.4(JAK1):c.3225G>T (p.Leu1075=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1357039	NM_002227.4(JAK1):c.3190G>A (p.Val1064Ile)	JAK1 (V1064I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200439	NM_002227.4(JAK1):c.3189C>T (p.Asp1063=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799971	NM_002227.4(JAK1):c.3182C>T (p.Ala1061Val)	JAK1 (A1060V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640475	NM_002227.4(JAK1):c.3140+19T>C	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639041	NM_002227.4(JAK1):c.3140+8A>C	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1976939	NM_002227.4(JAK1):c.3140+5C>T	JAK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2060176	NM_002227.4(JAK1):c.3138T>C (p.Phe1046=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1502967	NM_002227.4(JAK1):c.3124G>T (p.Asp1042Tyr)	JAK1 (D1041Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495736	NM_002227.4(JAK1):c.3122G>A (p.Arg1041Gln)	JAK1 (R1040Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 785841	NM_002227.4(JAK1):c.3108C>T (p.Thr1036=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1168338	NM_002227.4(JAK1):c.3096G>A (p.Lys1032=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773145	NM_002227.4(JAK1):c.3093T>C (p.Asp1031=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2902100	NM_002227.4(JAK1):c.3091G>A (p.Asp1031Asn)	JAK1 (D1030N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1660933	NM_002227.4(JAK1):c.3090C>T (p.Thr1030=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617607	NM_002227.4(JAK1):c.3078A>G (p.Lys1026=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854930	NM_002227.4(JAK1):c.3068G>A (p.Gly1023Asp)	JAK1 (G1022D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896028	NM_002227.4(JAK1):c.3066C>T (p.Phe1022=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911719	NM_002227.4(JAK1):c.3048A>C (p.Gln1016His)	JAK1 (Q1016H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093164	NM_002227.4(JAK1):c.3036G>A (p.Glu1012=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707855	NM_002227.4(JAK1):c.3034G>C (p.Glu1012Gln)	JAK1 (E1012Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071481	NM_002227.4(JAK1):c.3027C>T (p.Val1009=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734062	NM_002227.4(JAK1):c.3005G>A (p.Arg1002Gln)	JAK1 (R1002Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791692	NM_002227.4(JAK1):c.2998G>A (p.Val1000Ile)	JAK1 (V1000I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1662590	NM_002227.4(JAK1):c.2997C>T (p.Tyr999=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1647531	NM_002227.4(JAK1):c.2988T>G (p.Ser996=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555251	NM_002227.4(JAK1):c.2985T>C (p.Gly995=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1673191	NM_002227.4(JAK1):c.2980T>C (p.Leu994=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005725	NM_002227.4(JAK1):c.2968-5C>G	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963614	NM_002227.4(JAK1):c.2968-5C>T	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1565838	NM_002227.4(JAK1):c.2968-7C>T	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1593146	NM_002227.4(JAK1):c.2968-9C>G	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962135	NM_002227.4(JAK1):c.2968-17T>C	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961549	NM_002227.4(JAK1):c.2967+19A>G	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800740	NM_002227.4(JAK1):c.2967+16A>G	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982664	NM_002227.4(JAK1):c.2967+14A>G	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961885	NM_002227.4(JAK1):c.2967+12dup	JAK1	Duplication (intron variant)	not provided	GLikely benign
Select item 1657832	NM_002227.4(JAK1):c.2967+9_2967+12del	JAK1	Deletion (intron variant)	not provided	GLikely benign
Select item 1602856	NM_002227.4(JAK1):c.2967+11A>G	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1522682	NM_002227.4(JAK1):c.2953G>A (p.Val985Ile)	JAK1 (V984I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2034021	NM_002227.4(JAK1):c.2949T>C (p.Tyr983=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184884	NM_002227.4(JAK1):c.2940G>A (p.Gln980=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010619	NM_002227.4(JAK1):c.2923A>G (p.Ile975Val)	JAK1 (I975V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984131	NM_002227.4(JAK1):c.2919C>A (p.Asn973Lys)	JAK1 (N973K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2739607	NM_002227.4(JAK1):c.2901T>C (p.Tyr967=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370875	NM_002227.4(JAK1):c.2883G>A (p.Ser961=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972622	NM_002227.4(JAK1):c.2882C>T (p.Ser961Leu)	JAK1 (S960L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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