ClinVar for Gene (Select 3560) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380719	NM_000878.5(IL2RB):c.704C>T (p.Ala235Val)	IL2RB (A235V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380718	NM_000878.5(IL2RB):c.1409A>C (p.Gln470Pro)	IL2RB (Q470P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351859	NM_000878.5(IL2RB):c.929C>T (p.Ser310Leu)	IL2RB (S310L)	Single nucleotide variant (missense variant)	IL2RB-related disorder	GUncertain significance
Select item 3285866	NM_000878.5(IL2RB):c.1580C>T (p.Ala527Val)	IL2RB (A527V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285865	NM_000878.5(IL2RB):c.1433G>A (p.Gly478Glu)	IL2RB (G478E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285863	NM_000878.5(IL2RB):c.502G>A (p.Glu168Lys)	IL2RB (E168K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285862	NM_000878.5(IL2RB):c.1079C>T (p.Thr360Ile)	IL2RB (T360I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285861	NM_000878.5(IL2RB):c.151G>A (p.Asp51Asn)	IL2RB (D51N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285860	NM_000878.5(IL2RB):c.427G>A (p.Val143Met)	IL2RB (V143M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285859	NM_000878.5(IL2RB):c.829G>A (p.Val277Ile)	IL2RB (V277I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285858	NM_000878.5(IL2RB):c.1550C>T (p.Pro517Leu)	IL2RB (P517L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109372	NM_000878.5(IL2RB):c.8C>T (p.Ala3Val)	IL2RB (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109371	NM_000878.5(IL2RB):c.1061C>G (p.Ser354Trp)	IL2RB (S354W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109370	NM_000878.5(IL2RB):c.1017G>T (p.Gln339His)	IL2RB (Q339H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3022484	NM_000878.5(IL2RB):c.903+15C>T	IL2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015717	NM_000878.5(IL2RB):c.228G>T (p.Leu76=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012088	NM_000878.5(IL2RB):c.903+15C>A	IL2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011135	NM_000878.5(IL2RB):c.1407C>T (p.Pro469=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004220	NM_000878.5(IL2RB):c.120G>T (p.Ser40=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003700	NM_000878.5(IL2RB):c.795C>A (p.Ile265=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001998	NM_000878.5(IL2RB):c.1435G>A (p.Val479Ile)	IL2RB (V479I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000308	NM_000878.5(IL2RB):c.414C>T (p.Leu138=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993157	NM_000878.5(IL2RB):c.601G>A (p.Asp201Asn)	IL2RB (D201N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988892	NM_000878.5(IL2RB):c.389-21_389-20delinsTG	IL2RB	Indel (intron variant)	not provided	GUncertain significance
Select item 2986360	NM_000878.5(IL2RB):c.997G>A (p.Val333Met)	IL2RB (V333M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985301	NM_000878.5(IL2RB):c.89-5G>T	IL2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984507	NM_000878.5(IL2RB):c.1635G>A (p.Gln545=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983875	NM_000878.5(IL2RB):c.1311C>A (p.Gly437=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971551	NM_000878.5(IL2RB):c.852C>T (p.Asp284=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970578	NM_000878.5(IL2RB):c.1038C>G (p.Pro346=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970382	NM_000878.5(IL2RB):c.704-13C>T	IL2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967500	NM_000878.5(IL2RB):c.1453T>A (p.Phe485Ile)	IL2RB (F485I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965666	NM_000878.5(IL2RB):c.1506C>T (p.Asp502=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964795	NM_000878.5(IL2RB):c.1245C>T (p.Asp415=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963601	NM_000878.5(IL2RB):c.203+20T>G	IL2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963597	NM_000878.5(IL2RB):c.1211C>T (p.Ser404Phe)	IL2RB (S404F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961275	NM_000878.5(IL2RB):c.910C>T (p.Leu304Phe)	IL2RB (L304F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960832	NM_000878.5(IL2RB):c.501C>T (p.Phe167=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960036	NM_000878.5(IL2RB):c.591_592del (p.Leu198fs)	IL2RB (L198fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2959289	NM_000878.5(IL2RB):c.1296C>A (p.Pro432=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912498	NM_000878.5(IL2RB):c.89-4G>T	IL2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898836	NM_000878.5(IL2RB):c.270C>A (p.Leu90=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2897900	NM_000878.5(IL2RB):c.1350C>T (p.Ala450=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893470	NM_000878.5(IL2RB):c.1419G>T (p.Gly473=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886054	NM_000878.5(IL2RB):c.498G>T (p.Glu166Asp)	IL2RB (E166D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871721	NM_000878.5(IL2RB):c.903+13G>A	IL2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866740	NM_000878.5(IL2RB):c.854C>G (p.Pro285Arg)	IL2RB (P285R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857653	NM_000878.5(IL2RB):c.967T>G (p.Ser323Ala)	IL2RB (S323A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857640	NM_000878.5(IL2RB):c.88+1G>A	IL2RB	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2847471	NM_000878.5(IL2RB):c.1115C>T (p.Ala372Val)	IL2RB (A372V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833748	NM_000878.5(IL2RB):c.973C>T (p.Leu325=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825838	NM_000878.5(IL2RB):c.1221C>G (p.Pro407=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824156	NM_000878.5(IL2RB):c.1414C>T (p.Leu472=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814162	NM_000878.5(IL2RB):c.510G>A (p.Arg170=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813629	NM_000878.5(IL2RB):c.282+14_282+26del	IL2RB	Deletion (intron variant)	not provided	GLikely benign
Select item 2811966	NM_000878.5(IL2RB):c.203+12G>T	IL2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807985	NM_000878.5(IL2RB):c.546C>G (p.Pro182=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807290	NM_000878.5(IL2RB):c.271G>A (p.Gly91Arg)	IL2RB (G91R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805829	NM_000878.5(IL2RB):c.606C>G (p.Thr202=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800340	NM_000878.5(IL2RB):c.1002G>C (p.Thr334=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794891	NM_000878.5(IL2RB):c.1491G>A (p.Gly497=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793509	NM_000878.5(IL2RB):c.97C>T (p.Gln33Ter)	IL2RB (Q33*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2790288	NM_000878.5(IL2RB):c.1512C>T (p.Gly504=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781164	NM_000878.5(IL2RB):c.645C>T (p.Gly215=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2779655	NM_000878.5(IL2RB):c.193C>T (p.Pro65Ser)	IL2RB (P65S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778822	NM_000878.5(IL2RB):c.904-12T>C	IL2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771806	NM_000878.5(IL2RB):c.904-5A>C	IL2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765281	NM_000878.5(IL2RB):c.480C>G (p.Tyr160Ter)	IL2RB (Y160*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2763822	NM_000878.5(IL2RB):c.819-1G>T	IL2RB	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2752121	NM_000878.5(IL2RB):c.757G>A (p.Gly253Arg)	IL2RB (G253R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2749406	NM_000878.5(IL2RB):c.203+4A>T	IL2RB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2743756	NM_000878.5(IL2RB):c.819-2_832del	IL2RB	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2738627	NM_000878.5(IL2RB):c.315C>A (p.Thr105=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714149	NM_000878.5(IL2RB):c.1284G>A (p.Leu428=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713602	NM_000878.5(IL2RB):c.105A>G (p.Thr35=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712636	NM_000878.5(IL2RB):c.80C>T (p.Ala27Val)	IL2RB (A27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705574	NM_000878.5(IL2RB):c.948C>A (p.Gly316=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700005	NM_000878.5(IL2RB):c.283-13C>T	IL2RB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695530	NM_000878.5(IL2RB):c.6G>C (p.Ala2=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2688456	NM_000878.5(IL2RB):c.537+97C>G	IL2RB	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688435	NM_000878.5(IL2RB):c.903+62A>C	IL2RB	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688434	NM_000878.5(IL2RB):c.819-98C>T	IL2RB	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688427	NM_000878.5(IL2RB):c.819-68T>C	IL2RB	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688422	NM_000878.5(IL2RB):c.89-38A>G	IL2RB	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688406	NM_000878.5(IL2RB):c.283-66G>C	IL2RB	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2584898	NM_000878.5(IL2RB):c.1021G>A (p.Asp341Asn)	IL2RB (D341N)	Single nucleotide variant (missense variant)	Immunodeficiency 63 with lymphoproliferation and autoimmunity	GUncertain significance
Select item 2579193	GRCh38/hg38 22q12.3(chr22:37098319-37127846)x1	IL2RB, LOC130067341 +1 more	Copy number loss	Iron-refractory iron deficiency anemia	GPathogenic
Select item 2571158	NM_000878.5(IL2RB):c.1467T>G (p.Pro489=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2491041	NM_000878.5(IL2RB):c.1402G>A (p.Asp468Asn)	IL2RB (D468N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489500	NM_000878.5(IL2RB):c.598C>G (p.Pro200Ala)	IL2RB (P200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2432845	NM_000878.5(IL2RB):c.203+1G>A	IL2RB	Single nucleotide variant (splice donor variant)	Immunodeficiency 63 with lymphoproliferation and autoimmunity	GUncertain significance
Select item 2427872	NM_000878.5(IL2RB):c.1551T>G (p.Pro517=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	ANKRD54, BAIAP2L2 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2423432	NC_000022.10:g.(?_37494436)_(37540212_?)dup	IL2RB, TMPRSS6	Duplication	not provided	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2421606	NM_000878.5(IL2RB):c.591G>A (p.Thr197=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2409006	NM_000878.5(IL2RB):c.698C>A (p.Pro233His)	IL2RB (P233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299543	NM_000878.5(IL2RB):c.1297A>G (p.Ser433Gly)	IL2RB (S433G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291179	NM_000878.5(IL2RB):c.1112A>G (p.Asp371Gly)	IL2RB (D371G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2199580	NM_000878.5(IL2RB):c.114C>T (p.Tyr38=)	IL2RB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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