ClinVar for Gene (Select 3718) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366594	NM_000215.4(JAK3):c.2285A>G (p.Tyr762Cys)	JAK3 (Y762C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287142	NM_000215.4(JAK3):c.590G>C (p.Ser197Thr)	JAK3 (S197T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3287141	NM_000215.4(JAK3):c.2396G>A (p.Arg799His)	JAK3 (R799H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256936	NM_000215.4(JAK3):c.1732C>T (p.Gln578Ter)	JAK3 (Q578*)	Single nucleotide variant (nonsense)	Susceptibility to severe COVID-19	GLikely pathogenic
Select item 3248439	NC_000019.9:g.(?_17943332)_(17949808_?)del	JAK3	Deletion	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 3248438	NC_000019.9:g.(?_17951019)_(17955226_?)del	JAK3	Deletion	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 3248437	NC_000019.9:g.(?_17952429)_(17955226_?)del	JAK3	Deletion	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 3248436	NC_000019.9:g.(?_17948721)_(17950492_?)del	JAK3	Deletion	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 3233962	NM_000215.4(JAK3):c.1442-2A>G	JAK3	Single nucleotide variant (splice acceptor variant)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 3112157	NM_000215.4(JAK3):c.971A>G (p.Asp324Gly)	JAK3 (D324G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112156	NM_000215.4(JAK3):c.952G>T (p.Val318Phe)	JAK3 (V318F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112155	NM_000215.4(JAK3):c.916G>A (p.Ala306Thr)	JAK3 (A306T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112154	NM_000215.4(JAK3):c.2243A>G (p.Lys748Arg)	JAK3 (K748R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112153	NM_000215.4(JAK3):c.131C>T (p.Ser44Phe)	JAK3 (S44F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112152	NM_000215.4(JAK3):c.1046T>G (p.Phe349Cys)	JAK3 (F349C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068186	NM_000215.4(JAK3):c.3055G>A (p.Glu1019Lys)	JAK3 (E1019K)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely pathogenic
Select item 3068049	NM_000215.4(JAK3):c.658G>C (p.Ala220Pro)	JAK3 (A220P)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 3064100	NM_000215.4(JAK3):c.2609G>T (p.Arg870Leu)	JAK3 (R870L)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 3051504	NM_000215.4(JAK3):c.2454G>A (p.Glu818=)	JAK3	Single nucleotide variant (synonymous variant)	JAK3-related disorder	GLikely benign
Select item 3050786	NM_000215.4(JAK3):c.*10G>A	JAK3	Single nucleotide variant (3 prime UTR variant)	JAK3-related disorder	GLikely benign
Select item 3029100	NM_000215.4(JAK3):c.2422C>T (p.Leu808Phe)	JAK3 (L808F)	Single nucleotide variant (missense variant)	JAK3-related disorder	GLikely benign
Select item 3023135	NM_000215.4(JAK3):c.1740G>T (p.Ser580=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3023065	NM_000215.4(JAK3):c.1143-10T>C	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3022766	NM_000215.4(JAK3):c.2491-8T>C	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3022619	NM_000215.4(JAK3):c.1142+14C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3021492	NM_000215.4(JAK3):c.1570-5T>C	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3021396	NM_000215.4(JAK3):c.534C>T (p.Ala178=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3021127	NM_000215.4(JAK3):c.2694G>A (p.Leu898=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3020983	NM_000215.4(JAK3):c.783C>T (p.Ala261=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3020981	NM_000215.4(JAK3):c.2055C>G (p.Thr685=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3020273	NM_000215.4(JAK3):c.1915-6C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3020097	NM_000215.4(JAK3):c.2316C>T (p.Ala772=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3020085	NM_000215.4(JAK3):c.2681-12T>C	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3020020	NM_000215.4(JAK3):c.985-7C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3018489	NM_000215.4(JAK3):c.1255-1G>A	JAK3	Single nucleotide variant (splice acceptor variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 3018454	NM_000215.4(JAK3):c.423C>T (p.His141=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3017627	NM_000215.4(JAK3):c.2279T>C (p.Met760Thr)	JAK3 (M760T)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 3017214	NM_000215.4(JAK3):c.2200-8A>G	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3016400	NM_000215.4(JAK3):c.2805+11dup	JAK3	Duplication (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GBenign
Select item 3016197	NM_000215.4(JAK3):c.308+5del	JAK3	Deletion (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 3015200	NM_000215.4(JAK3):c.2682C>T (p.Gly894=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3014398	NM_000215.4(JAK3):c.3012C>T (p.Phe1004=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3014354	NM_000215.4(JAK3):c.2445G>A (p.Thr815=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3011419	NM_000215.4(JAK3):c.1254+18G>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3010512	NM_000215.4(JAK3):c.453C>T (p.Pro151=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3010376	NM_000215.4(JAK3):c.3151T>C (p.Leu1051=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3010307	NM_000215.4(JAK3):c.1320G>A (p.Leu440=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3009616	NM_000215.4(JAK3):c.1143-19C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3009373	NM_000215.4(JAK3):c.858G>A (p.Gln286=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3008796	NM_000215.4(JAK3):c.342G>A (p.Lys114=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3008363	NM_000215.4(JAK3):c.1818G>A (p.Gly606=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3008277	NM_000215.4(JAK3):c.566+11C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3007997	NM_000215.4(JAK3):c.3048C>T (p.Val1016=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3007058	NM_000215.4(JAK3):c.1255-15C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3005487	NM_000215.4(JAK3):c.2596A>C (p.Arg866=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3005350	NM_000215.4(JAK3):c.2979G>A (p.Trp993Ter)	JAK3 (W993*)	Single nucleotide variant (nonsense)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 3001714	NM_000215.4(JAK3):c.184+19G>C	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 3000260	NM_000215.4(JAK3):c.2199+15C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2999950	NM_000215.4(JAK3):c.432C>T (p.Asp144=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2999659	NM_000215.4(JAK3):c.900C>T (p.Asp300=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2999324	NM_000215.4(JAK3):c.357G>T (p.Gly119=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2998330	NM_000215.4(JAK3):c.3312G>T (p.Gly1104=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2998274	NM_000215.4(JAK3):c.1881G>A (p.Val627=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2997577	NM_000215.4(JAK3):c.1441+1G>T	JAK3	Single nucleotide variant (splice donor variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely pathogenic
Select item 2997565	NM_000215.4(JAK3):c.1701+17C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2996870	NM_000215.4(JAK3):c.2157T>C (p.Phe719=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2994358	NM_000215.4(JAK3):c.363C>T (p.Arg121=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2993627	NM_000215.4(JAK3):c.308+11C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2993118	NM_000215.4(JAK3):c.165G>C (p.Val55=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2992602	NM_000215.4(JAK3):c.1255-19G>C	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2992417	NM_000215.4(JAK3):c.1702-4C>A	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2991987	NM_000215.4(JAK3):c.1143-6C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2991830	NM_000215.4(JAK3):c.2806-12G>C	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2991499	NM_000215.4(JAK3):c.2048-9T>C	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2989996	NM_000215.4(JAK3):c.753C>G (p.Ala251=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2989634	NM_000215.4(JAK3):c.1068G>A (p.Gln356=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2989394	NM_000215.4(JAK3):c.2721C>T (p.Ser907=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2987065	NM_000215.4(JAK3):c.1008C>T (p.Pro336=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2986087	NM_000215.4(JAK3):c.2806-12G>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2986018	NM_000215.4(JAK3):c.3207+9C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2985649	NM_000215.4(JAK3):c.1569+8G>A	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2984745	NM_000215.4(JAK3):c.2350+12G>C	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2984393	NM_000215.4(JAK3):c.1442-14T>A	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2983334	NM_000215.4(JAK3):c.566+20G>A	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2981675	NM_000215.4(JAK3):c.2490+17C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2979548	NM_000215.4(JAK3):c.1570-15C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2977651	NM_000215.4(JAK3):c.1255-12T>C	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2977329	NM_000215.4(JAK3):c.184+9A>G	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2976376	NM_000215.4(JAK3):c.1572T>C (p.His524=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2974277	NM_000215.4(JAK3):c.1442-6C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2974077	NM_000215.4(JAK3):c.2491-13C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2973138	NM_000215.4(JAK3):c.3270C>T (p.Ala1090=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2972779	NM_000215.4(JAK3):c.1701+11T>G	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2972060	NM_000215.4(JAK3):c.3039C>T (p.Phe1013=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2972025	NM_000215.4(JAK3):c.2979-16C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2971774	NM_000215.4(JAK3):c.566+13A>C	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2970757	NM_000215.4(JAK3):c.1917G>A (p.Glu639=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2968430	NM_000215.4(JAK3):c.421-6C>T	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 2968429	NM_000215.4(JAK3):c.421-4_421-3del	JAK3	Deletion (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign

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