ClinVar for Gene (Select 3716) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3112144	NM_002227.4(JAK1):c.1445T>C (p.Phe482Ser)	JAK1 (F482S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3053857	NM_002227.4(JAK1):c.2042G>A (p.Arg681Gln)	JAK1 (R680Q +1 more)	Single nucleotide variant (missense variant)	JAK1-related disorder	GUncertain significance
Select item 3029804	NM_002227.4(JAK1):c.354A>G (p.Gly118=)	JAK1	Single nucleotide variant (synonymous variant)	JAK1-related disorder	GLikely benign
Select item 3023216	NM_002227.4(JAK1):c.279C>T (p.Arg93=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023007	NM_002227.4(JAK1):c.1334+18A>T	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020497	NM_002227.4(JAK1):c.312G>C (p.Arg104=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019638	NM_002227.4(JAK1):c.330-8C>T	JAK1	Single nucleotide variant (intron 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 3012000	NM_002227.4(JAK1):c.1176+20T>C	JAK1	Single nucleotide variant (intron 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 3010486	NM_002227.4(JAK1):c.1649-16C>T	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010399	NM_002227.4(JAK1):c.1034A>G (p.Lys345Arg)	JAK1 (K345R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009596	NM_002227.4(JAK1):c.990+20C>T	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009487	NM_002227.4(JAK1):c.2116-15C>T	JAK1	Single nucleotide variant (intron 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 3005138	NM_002227.4(JAK1):c.2099G>A (p.Ser700Asn)	JAK1 (S700N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3004289	NM_002227.4(JAK1):c.2655C>T (p.His885=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004244	NM_002227.4(JAK1):c.3348C>T (p.Cys1116=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004048	NM_002227.4(JAK1):c.1648+4C>T	JAK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3003014	NM_002227.4(JAK1):c.611A>T (p.Lys204Met)	JAK1 (K204M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999484	NM_002227.4(JAK1):c.985C>A (p.Pro329Thr)	JAK1 (P329T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998640	NM_002227.4(JAK1):c.1200G>A (p.Glu400=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997195	NM_002227.4(JAK1):c.484-12C>T	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996934	NM_002227.4(JAK1):c.2554+12del	JAK1	Deletion (intron variant)	not provided	GLikely benign
Select item 2996100	NM_002227.4(JAK1):c.7-4A>G	JAK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2993866	NM_002227.4(JAK1):c.882A>G (p.Ser294=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993686	NM_002227.4(JAK1):c.1649-5C>T	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990701	NM_002227.4(JAK1):c.399G>A (p.Lys133=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989772	NM_002227.4(JAK1):c.1202A>T (p.Glu401Val)	JAK1 (E401V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989547	NM_002227.4(JAK1):c.1148G>C (p.Ser383Thr)	JAK1 (S383T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989037	NM_002227.4(JAK1):c.807A>G (p.Lys269=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988812	NM_002227.4(JAK1):c.1648+17C>T	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987755	NM_002227.4(JAK1):c.171A>G (p.Ala57=)	JAK1, LOC129930680	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987663	NM_002227.4(JAK1):c.1236C>T (p.Tyr412=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986992	NM_002227.4(JAK1):c.2404-14C>T	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986669	NM_002227.4(JAK1):c.44T>C (p.Phe15Ser)	JAK1 (F15S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984905	NM_002227.4(JAK1):c.7-14T>A	JAK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2984370	NM_002227.4(JAK1):c.329+3A>G	JAK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2983141	NM_002227.4(JAK1):c.1832C>T (p.Thr611Ile)	JAK1, LOC126805749 (T611I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982664	NM_002227.4(JAK1):c.2967+14A>G	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976282	NM_002227.4(JAK1):c.813G>A (p.Leu271=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976154	NM_002227.4(JAK1):c.205C>G (p.Arg69Gly)	JAK1, LOC129930680 (R69G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976004	NM_002227.4(JAK1):c.2251+3G>A	JAK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2975664	NM_002227.4(JAK1):c.1889A>G (p.Asp630Gly)	LOC126805749, JAK1 (D629G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975594	NM_002227.4(JAK1):c.1779G>A (p.Thr593=)	JAK1, LOC126805749	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975493	NM_002227.4(JAK1):c.2043G>A (p.Arg681=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972842	NM_002227.4(JAK1):c.1344C>T (p.Tyr448=)	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
Select item 2971222	NM_002227.4(JAK1):c.3258+11C>G	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969597	NM_002227.4(JAK1):c.206G>A (p.Arg69His)	JAK1 (R69H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969516	NM_002227.4(JAK1):c.631C>T (p.Leu211=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968402	NM_002227.4(JAK1):c.1658A>C (p.Asn553Thr)	JAK1 (N553T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967924	NM_002227.4(JAK1):c.845G>C (p.Gly282Ala)	JAK1 (G282A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967840	NM_002227.4(JAK1):c.2679G>T (p.Arg893Ser)	JAK1 (R893S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967299	NM_002227.4(JAK1):c.2403+5G>A	JAK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2967071	NM_002227.4(JAK1):c.1459-14C>T	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964680	NM_002227.4(JAK1):c.2217C>A (p.Asp739Glu)	JAK1 (D739E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964237	NM_002227.4(JAK1):c.2763T>C (p.Asp921=)	JAK1	Single nucleotide variant (synonymous 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 2961885	NM_002227.4(JAK1):c.2967+12dup	JAK1	Duplication (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 2960878	NM_002227.4(JAK1):c.1334+14C>G	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 2958740	NM_002227.4(JAK1):c.153C>G (p.Gly51=)	JAK1, LOC129930680	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956516	NM_002227.4(JAK1):c.1900-15C>A	JAK1, LOC126805749	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956053	NM_002227.4(JAK1):c.2555-19T>C	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955875	NM_002227.4(JAK1):c.1001T>C (p.Val334Ala)	JAK1 (V334A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955596	NM_002227.4(JAK1):c.234T>C (p.Phe78=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917643	NM_002227.4(JAK1):c.1077C>T (p.Ile359=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916163	NM_002227.4(JAK1):c.111A>G (p.Glu37=)	JAK1, LOC129930680	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912218	NM_002227.4(JAK1):c.2035A>C (p.Met679Leu)	JAK1 (M679L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909800	NM_002227.4(JAK1):c.330-7C>T	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902510	NM_002227.4(JAK1):c.2485A>G (p.Asn829Asp)	JAK1 (N828D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2900691	NM_002227.4(JAK1):c.534C>T (p.Thr178=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896028	NM_002227.4(JAK1):c.3066C>T (p.Phe1022=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895604	NM_002227.4(JAK1):c.1288C>T (p.Pro430Ser)	JAK1 (P430S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893737	NM_002227.4(JAK1):c.1606A>G (p.Ile536Val)	JAK1 (I535V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892635	NM_002227.4(JAK1):c.934T>C (p.Tyr312His)	JAK1 (Y312H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892518	NM_002227.4(JAK1):c.2251+4T>C	JAK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2883428	NM_002227.4(JAK1):c.1665G>A (p.Leu555=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880702	NM_002227.4(JAK1):c.1913C>T (p.Ala638Val)	JAK1, LOC126805749 (A637V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878807	NM_002227.4(JAK1):c.432A>G (p.Pro144=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877902	NM_002227.4(JAK1):c.1036C>A (p.Leu346Met)	JAK1 (L346M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873338	NM_002227.4(JAK1):c.2078A>G (p.Lys693Arg)	JAK1 (K692R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870749	NM_002227.4(JAK1):c.1190C>T (p.Ser397Phe)	JAK1 (S397F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870582	NM_002227.4(JAK1):c.2232T>A (p.Ile744=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869164	NM_002227.4(JAK1):c.2403+15C>G	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867378	NM_002227.4(JAK1):c.747G>A (p.Lys249=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860547	NM_002227.4(JAK1):c.1447G>C (p.Glu483Gln)	JAK1 (E483Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860380	NM_002227.4(JAK1):c.1429A>G (p.Met477Val)	JAK1 (M477V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855629	NM_002227.4(JAK1):c.1284C>G (p.Ala428=)	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 2851420	NM_002227.4(JAK1):c.359A>G (p.Asn120Ser)	JAK1 (N120S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846378	NM_002227.4(JAK1):c.676A>T (p.Asn226Tyr)	JAK1 (N226Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845898	NM_002227.4(JAK1):c.6+13G>A	JAK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843639	NM_002227.4(JAK1):c.147G>T (p.Arg49=)	JAK1, LOC129930680	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839577	NM_002227.4(JAK1):c.1550C>T (p.Pro517Leu)	JAK1 (P516L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2837875	NM_002227.4(JAK1):c.2367T>C (p.Asn789=)	JAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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