ClinVar for Gene (Select 3561) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067703	NM_000206.3(IL2RG):c.722_724dup (p.Ser241_His242insArg)	IL2RG	Duplication (inframe_insertion)	not provided	GLikely pathogenic
Select item 3066454	NM_000206.3(IL2RG):c.455-2A>T	IL2RG	Single nucleotide variant (splice acceptor variant)	X-linked severe combined immunodeficiency	GPathogenic FDA Recognized database
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 3014753	NM_000206.3(IL2RG):c.725A>G (p.His242Arg)	IL2RG (H242R)	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 3005161	NM_000206.3(IL2RG):c.15A>G (p.Ser5=)	IL2RG, LOC126863274	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 3001581	NM_000206.3(IL2RG):c.116-8C>T	IL2RG, LOC126863274	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
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 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 2997210	NM_000206.3(IL2RG):c.207C>T (p.Tyr69=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2989738	NM_000206.3(IL2RG):c.269+17G>C	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2987363	NM_000206.3(IL2RG):c.774T>C (p.Phe258=)	IL2RG	Single nucleotide variant (synonymous 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 2911114	NM_000206.3(IL2RG):c.594+16C>T	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GBenign
Select item 2910488	NM_000206.3(IL2RG):c.865dup (p.Arg289fs)	IL2RG (R289fs)	Duplication (frameshift variant)	X-linked severe combined immunodeficiency	GPathogenic
Select item 2909149	NM_000206.3(IL2RG):c.269+16del	IL2RG	Deletion (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2895913	NM_000206.3(IL2RG):c.779T>C (p.Leu260Ser)	IL2RG (L260S)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 2894526	NM_000206.3(IL2RG):c.204G>A (p.Glu68=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2878786	NM_000206.3(IL2RG):c.269+11G>C	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
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 2871561	NM_000206.3(IL2RG):c.269+18G>C	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2868525	NM_000206.3(IL2RG):c.153T>A (p.Ser51Arg)	IL2RG (S51R)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
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 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 2865841	NM_000206.3(IL2RG):c.147C>T (p.Ser49=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2864878	NM_000206.3(IL2RG):c.757+11C>G	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2862420	NM_000206.3(IL2RG):c.454+18G>C	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
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 2858078	NM_000206.3(IL2RG):c.72C>T (p.Asn24=)	IL2RG, LOC126863274	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	GLikely benign
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 2852219	NM_000206.3(IL2RG):c.758-13C>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
Select item 2846288	NM_000206.3(IL2RG):c.594+10T>G	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2840755	NM_000206.3(IL2RG):c.219T>A (p.Thr73=)	IL2RG	Single nucleotide variant (synonymous 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 2831888	NM_000206.3(IL2RG):c.471A>C (p.Pro157=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2831014	NM_000206.3(IL2RG):c.358A>G (p.Lys120Glu)	IL2RG (K120E)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 2828709	NM_000206.3(IL2RG):c.405A>C (p.Pro135=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2824962	NM_000206.3(IL2RG):c.268_269del (p.Trp90fs)	IL2RG (W90fs)	Deletion (frameshift variant)	X-linked severe combined immunodeficiency	GPathogenic
Select item 2819215	NM_000206.3(IL2RG):c.270-7C>T	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2812151	NM_000206.3(IL2RG):c.333C>T (p.Ile111=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2811920	NM_000206.3(IL2RG):c.687A>G (p.Pro229=)	IL2RG	Single nucleotide variant (synonymous 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 2807398	NM_000206.3(IL2RG):c.124C>T (p.Leu42=)	IL2RG, LOC126863274	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 2794328	NM_000206.3(IL2RG):c.758-14T>C	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2793169	NM_000206.3(IL2RG):c.279C>T (p.Asn93=)	IL2RG	Single nucleotide variant (synonymous 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 2778852	NM_000206.3(IL2RG):c.854+16G>A	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2778380	NM_000206.3(IL2RG):c.600A>T (p.Gln200His)	IL2RG (Q200H)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	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 2775986	NM_000206.3(IL2RG):c.763C>G (p.Pro255Ala)	IL2RG (P255A)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 2773232	NM_000206.3(IL2RG):c.664C>G (p.Arg222Gly)	IL2RG (R222G)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 2771917	NM_000206.3(IL2RG):c.115+10C>T	IL2RG, LOC126863274	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2768005	NM_000206.3(IL2RG):c.671G>C (p.Arg224Pro)	IL2RG (R224P)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely pathogenic
Select item 2765467	NM_000206.3(IL2RG):c.350_351insA (p.Gln118fs)	IL2RG (Q118fs)	Insertion (frameshift variant)	X-linked severe combined immunodeficiency	GPathogenic
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 2758638	NM_000206.3(IL2RG):c.80T>C (p.Ile27Thr)	IL2RG, LOC126863274 (I27T)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 2757471	NM_000206.3(IL2RG):c.455-13C>T	IL2RG	Single nucleotide variant (intron 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 2744586	NM_000206.3(IL2RG):c.672G>A (p.Arg224=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2742806	NM_000206.3(IL2RG):c.333C>A (p.Ile111=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2742378	NM_000206.3(IL2RG):c.765T>C (p.Pro255=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2737253	NM_000206.3(IL2RG):c.126del (p.Thr43fs)	LOC126863274, IL2RG (T43fs)	Deletion (frameshift variant)	X-linked severe combined immunodeficiency	GPathogenic
Select item 2737252	NM_000206.3(IL2RG):c.266A>G (p.Tyr89Cys)	IL2RG (Y89C)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 2737251	NM_000206.3(IL2RG):c.352C>T (p.Gln118Ter)	IL2RG (Q118*)	Single nucleotide variant (nonsense)	X-linked severe combined immunodeficiency	GPathogenic
Select item 2737249	NM_000206.3(IL2RG):c.515T>A (p.Leu172Gln)	IL2RG (L172Q)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely pathogenic
Select item 2737247	NM_000206.3(IL2RG):c.835G>A (p.Val279Met)	IL2RG (V279M)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 2733257	NM_000206.3(IL2RG):c.455-19T>C	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 2725979	NM_000206.3(IL2RG):c.270-4C>G	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2721286	NM_000206.3(IL2RG):c.431_433delinsGGG (p.Gln144_Met145delinsArgVal)	IL2RG	Indel (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 2713980	NM_000206.3(IL2RG):c.595-11T>C	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2710972	NM_000206.3(IL2RG):c.216C>T (p.Cys72=)	IL2RG	Single nucleotide variant (synonymous variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2710837	NM_000206.3(IL2RG):c.726C>T (p.His242=)	IL2RG	Single nucleotide variant (synonymous 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 2693807	NM_000206.3(IL2RG):c.575_578del (p.Asp192fs)	IL2RG (D192fs)	Microsatellite (frameshift variant)	X-linked severe combined immunodeficiency	GPathogenic
Select item 2688184	NM_000206.3(IL2RG):c.270-58A>G	IL2RG	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2673240	NM_000206.3(IL2RG):c.269+1G>A	IL2RG	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	KIF4A, LOC130068402 +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2660840	NM_000206.3(IL2RG):c.707A>G (p.His236Arg)	IL2RG (H236R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660839	NM_000206.3(IL2RG):c.967_970dup (p.Asp324fs)	IL2RG (D324fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2504922	NM_000206.3(IL2RG):c.664C>A (p.Arg222Ser)	IL2RG (R222S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2499143	NM_000206.3(IL2RG):c.711G>C (p.Trp237Cys)	IL2RG (W237C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2446010	NM_000206.3(IL2RG):c.326_340del (p.Glu109_Ser113del)	IL2RG	Deletion (inframe_deletion +1 more)	See cases	GLikely pathogenic
Select item 2442797	NM_000206.3(IL2RG):c.681del (p.Phe227fs)	IL2RG (F227fs)	Deletion (frameshift variant)	X-linked severe combined immunodeficiency	GLikely pathogenic
Select item 2442795	NM_000206.3(IL2RG):c.340G>A (p.Gly114Ser)	IL2RG (G114S)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely pathogenic
Select item 2432847	NM_000206.3(IL2RG):c.239C>T (p.Pro80Leu)	IL2RG (P80L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432846	NM_000206.3(IL2RG):c.98A>G (p.Asn33Ser)	IL2RG, LOC126863274 (N33S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425299	NC_000023.10:g.(?_69748945)_(70644108_?)dup	CXorf65, FOXO4 +11 more	Duplication	FG syndrome 1	GUncertain significance
Select item 2422586	NC_000023.10:g.(?_70327586)_(70683896_?)dup	GJB1, IL2RG +6 more	Duplication	X-linked severe combined immunodeficiency	GUncertain significance
Select item 2189489	NM_000206.3(IL2RG):c.270G>C (p.Trp90Cys)	IL2RG (W90C)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 2186646	NM_000206.3(IL2RG):c.270-11T>C	IL2RG	Single nucleotide variant (intron variant)	X-linked severe combined immunodeficiency	GLikely benign
Select item 2164756	NM_000206.3(IL2RG):c.60A>G (p.Gly20=)	IL2RG, LOC126863274	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)	X-linked severe combined immunodeficiency	GUncertain significance
Select item 2154151	NM_000206.3(IL2RG):c.92A>T (p.Asn31Ile)	IL2RG, LOC126863274 (N31I)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GBenign

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