IL2RG[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1414802	NM_000206.3(IL2RG):c.307_308del	IL2RG	Deletion (3 prime UTR variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 636787	NM_000206.3(IL2RG):c.*306A>C	IL2RG	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 368615	NM_000206.3(IL2RG):c.*290T>C	IL2RG	Single nucleotide variant (3 prime UTR variant)	X-linked severe combined immunodeficiency	GBenign
Select item 368616	NM_000206.3(IL2RG):c.*133G>A	IL2RG	Single nucleotide variant (3 prime UTR variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 2855822	NM_000206.3(IL2RG):c.1107C>T (p.Thr369=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 837417	NM_000206.3(IL2RG):c.1105A>G (p.Thr369Ala)	IL2RG (T369A)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance FDA Recognized database
Select item 1392048	NM_000206.3(IL2RG):c.1098_1099delinsTT (p.Lys366_Pro367delinsAsnSer)	IL2RG	Indel (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 1148592	NM_000206.3(IL2RG):c.1098G>A (p.Lys366=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 660280	NM_000206.3(IL2RG):c.1094T>C (p.Leu365Pro)	IL2RG (L365P)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 3009770	NM_000206.3(IL2RG):c.1092C>A (p.Thr364=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2856740	NM_000206.3(IL2RG):c.1091C>A (p.Thr364Asn)	IL2RG (T364N)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 2860418	NM_000206.3(IL2RG):c.1089C>T (p.Tyr363=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1303318	NM_000206.3(IL2RG):c.1082del (p.Pro361fs)	IL2RG (P361fs)	Deletion (frameshift variant)	X-linked severe combined immunodeficiency +1 more	GUncertain significance
Select item 1392408	NM_000206.3(IL2RG):c.1081C>A (p.Pro361Thr)	IL2RG (P361T)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 1158161	NM_000206.3(IL2RG):c.1080C>T (p.Pro360=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1108861	NM_000206.3(IL2RG):c.1080C>A (p.Pro360=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1152006	NM_000206.3(IL2RG):c.1077C>A (p.Ala359=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1101869	NM_000206.3(IL2RG):c.1077C>T (p.Ala359=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1088184	NM_000206.3(IL2RG):c.1077C>G (p.Ala359=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 968664	NM_000206.3(IL2RG):c.1076C>T (p.Ala359Val)	IL2RG (A359V)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance FDA Recognized database
Select item 833874	NM_000206.3(IL2RG):c.1066C>T (p.Pro356Ser)	IL2RG (P356S)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1199323	NM_000206.3(IL2RG):c.1061A>G (p.His354Arg)	IL2RG (H354R)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely benign FDA Recognized database
Select item 1160836	NM_000206.3(IL2RG):c.1059G>A (p.Gln353=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2801523	NM_000206.3(IL2RG):c.1049del (p.Pro350fs)	IL2RG (P350fs)	Deletion (frameshift variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 2058786	NM_000206.3(IL2RG):c.1048C>T (p.Pro350Ser)	IL2RG (P350S)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2147551	NM_000206.3(IL2RG):c.1046C>T (p.Ser349Phe)	IL2RG (S349F)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 3285867	NM_000206.3(IL2RG):c.1045T>C (p.Ser349Pro)	IL2RG (S349P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2777414	NM_000206.3(IL2RG):c.1045T>G (p.Ser349Ala)	IL2RG (S349A)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2746288	NM_000206.3(IL2RG):c.1043C>T (p.Ala348Val)	IL2RG (A348V)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 855653	NM_000206.3(IL2RG):c.1042G>A (p.Ala348Thr)	IL2RG (A348T)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2765052	NM_000206.3(IL2RG):c.1041G>T (p.Gly347=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2998384	NM_000206.3(IL2RG):c.1035G>T (p.Gly345=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2157916	NM_000206.3(IL2RG):c.1010C>A (p.Pro337Gln)	IL2RG (P337Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 912479	NM_000206.3(IL2RG):c.1010C>G (p.Pro337Arg)	IL2RG (P337R)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 1079466	NM_000206.3(IL2RG):c.1008C>T (p.Pro336=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1164534	NM_000206.3(IL2RG):c.1002G>A (p.Glu334=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GBenign
Select item 1125030	NM_000206.3(IL2RG):c.993C>T (p.Leu331=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2028474	NM_000206.3(IL2RG):c.990C>A (p.Cys330Ter)	IL2RG (C330*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 1127302	NM_000206.3(IL2RG):c.982C>A (p.Arg328=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 418656	NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)	IL2RG (R328*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 420678	NM_000206.3(IL2RG):c.980A>G (p.Glu327Gly)	IL2RG (E327G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1166432	NM_000206.3(IL2RG):c.977G>A (p.Ser326Asn)	IL2RG (S326N)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely benign FDA Recognized database
Select item 1167785	NM_000206.3(IL2RG):c.975C>T (p.Tyr325=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GBenign
Select item 2660839	NM_000206.3(IL2RG):c.967_970dup (p.Asp324fs)	IL2RG (D324fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2865918	NM_000206.3(IL2RG):c.969A>T (p.Pro323=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1043284	NM_000206.3(IL2RG):c.967C>G (p.Pro323Ala)	IL2RG (P323A)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 2138599	NM_000206.3(IL2RG):c.964C>T (p.Gln322Ter)	IL2RG (Q322*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 763173	NM_000206.3(IL2RG):c.963G>A (p.Leu321=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign FDA Recognized database
Select item 1711710	NM_000206.3(IL2RG):c.943_962del (p.Lys315fs)	IL2RG (K315fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1131394	NM_000206.3(IL2RG):c.961C>T (p.Leu321=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 658867	NM_000206.3(IL2RG):c.958_959del (p.Leu321fs)	IL2RG (L321fs)	Microsatellite (frameshift variant)	X-linked severe combined immunodeficiency	GPathogenic
Select item 2866689	NM_000206.3(IL2RG):c.955G>A (p.Glu319Lys)	IL2RG (E319K)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 750140	NM_000206.3(IL2RG):c.953C>T (p.Ala318Val)	IL2RG (A318V)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GBenign
Select item 1135561	NM_000206.3(IL2RG):c.927C>T (p.Ala309=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1107953	NM_000206.3(IL2RG):c.925-4T>C	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1972361	NM_000206.3(IL2RG):c.925-8G>A	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1671845	NM_000206.3(IL2RG):c.925-8G>C	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2699347	NM_000206.3(IL2RG):c.924+12G>T	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1945375	NM_000206.3(IL2RG):c.924+12G>A	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GBenign
Select item 2873401	NM_000206.3(IL2RG):c.924+10C>T	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1566409	NM_000206.3(IL2RG):c.924+10C>G	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1559662	NM_000206.3(IL2RG):c.924+9G>T	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GUncertain significance FDA Recognized database
Select item 2146686	NM_000206.3(IL2RG):c.924+8C>A	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1590410	NM_000206.3(IL2RG):c.924+8C>T	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1124078	NM_000206.3(IL2RG):c.924+8C>G	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1012659	NM_000206.3(IL2RG):c.924+3G>A	IL2RG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 280035	NM_000206.3(IL2RG):c.924+1G>A	IL2RG	Single nucleotide variant (splice donor variant)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 962267	NM_000206.3(IL2RG):c.924G>A (p.Ser308=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely pathogenic FDA Recognized database
Select item 463377	NC_000023.11:g.(?_71108277)_(71108346_?)del	IL2RG	Deletion	X-linked severe combined immunodeficiency	GPathogenic
Select item 10018	NM_000206.3(IL2RG):c.923C>A (p.Ser308Ter)	IL2RG (S308*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenic
Select item 1251965	NM_000206.3(IL2RG):c.922del (p.Ser308fs)	IL2RG (S308fs)	Deletion (frameshift variant)	X-linked severe combined immunodeficiency	GPathogenic
Select item 1164591	NM_000206.3(IL2RG):c.912C>T (p.His304=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GBenign
Select item 463387	NM_000206.3(IL2RG):c.903_910del (p.Glu302fs)	IL2RG (E302fs)	Deletion (frameshift variant)	X-linked severe combined immunodeficiency	GPathogenic
Select item 1685888	NM_000206.3(IL2RG):c.905_906del (p.Glu302fs)	IL2RG (E302fs)	Deletion (frameshift variant)	X-linked severe combined immunodeficiency	GPathogenic
Select item 1610075	NM_000206.3(IL2RG):c.888A>G (p.Leu296=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2029741	NM_000206.3(IL2RG):c.879del (p.Lys294fs)	IL2RG (K294fs)	Deletion (frameshift variant)	X-linked severe combined immunodeficiency	GPathogenic
Select item 10023	NM_000206.3(IL2RG):c.878T>A (p.Leu293Gln)	IL2RG (L293Q)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GPathogenic
Select item 2910488	NM_000206.3(IL2RG):c.865dup (p.Arg289fs)	IL2RG (R289fs)	Duplication (frameshift variant)	X-linked severe combined immunodeficiency	GPathogenic
Select item 1400762	NM_000206.3(IL2RG):c.866G>A (p.Arg289Gln)	IL2RG (R289Q)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 762594	NM_000206.3(IL2RG):c.865C>A (p.Arg289=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 36389	NM_000206.3(IL2RG):c.865C>T (p.Arg289Ter)	IL2RG	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency +1 more	GPathogenic
Select item 368617	NM_000206.3(IL2RG):c.858G>A (p.Thr286=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GBenign
Select item 1170712	NM_000206.3(IL2RG):c.857C>T (p.Thr286Met)	IL2RG (T286M)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency +1 more	GBenign/Likely benign
Select item 463385	NM_000206.3(IL2RG):c.855-1G>A	IL2RG	Single nucleotide variant (splice acceptor variant)	X-linked severe combined immunodeficiency	GPathogenic
Select item 1455468	NM_000206.3(IL2RG):c.855-2A>C	IL2RG	Single nucleotide variant (splice acceptor variant)	X-linked severe combined immunodeficiency	GPathogenic
Select item 3000782	NM_000206.3(IL2RG):c.855-5G>C	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2833578	NM_000206.3(IL2RG):c.855-5G>A	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2810505	NM_000206.3(IL2RG):c.855-5G>T	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2781698	NM_000206.3(IL2RG):c.855-7_855-6del	IL2RG	Deletion (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2076388	NM_000206.3(IL2RG):c.855-8C>G	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 463386	NM_000206.3(IL2RG):c.855-8C>T	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1539384	NM_000206.3(IL2RG):c.855-9C>T	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1152409	NM_000206.3(IL2RG):c.855-10C>A	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1635830	NM_000206.3(IL2RG):c.855-16C>T	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2733023	NM_000206.3(IL2RG):c.855-18C>T	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2073376	NM_000206.3(IL2RG):c.855-19C>T	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2917350	NM_000206.3(IL2RG):c.855-20C>T	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2778852	NM_000206.3(IL2RG):c.854+16G>A	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 1665620	NM_000206.3(IL2RG):c.854+15A>G	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2847767	NM_000206.3(IL2RG):c.854+11G>C	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign

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