ClinVar for Gene (Select 3559) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 3109369	NM_000417.3(IL2RA):c.98A>T (p.His33Leu)	IL2RA (H33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063136	GRCh37/hg19 10p15.1(chr10:5971020-6231793)x3	FBH1, IL15RA +3 more	Copy number gain	not specified	GUncertain significance
Select item 3016816	NM_000417.3(IL2RA):c.299A>G (p.Glu100Gly)	IL2RA (E100G)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 3007508	NM_000417.3(IL2RA):c.285A>T (p.Thr95=)	IL2RA	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 3005483	NM_000417.3(IL2RA):c.468C>T (p.Tyr156=)	IL2RA	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2996782	NM_000417.3(IL2RA):c.728-12C>T	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2996299	NM_000417.3(IL2RA):c.727+10G>C	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2995829	NM_000417.3(IL2RA):c.273G>A (p.Thr91=)	IL2RA	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2975409	NM_000417.3(IL2RA):c.83C>T (p.Pro28Leu)	IL2RA (P28L)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2959004	NM_000417.3(IL2RA):c.65-10T>G	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2868125	NM_000417.3(IL2RA):c.728-12C>G	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2813861	NM_000417.3(IL2RA):c.113C>T (p.Ala38Val)	IL2RA (A38V)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2807545	NM_000417.3(IL2RA):c.237A>G (p.Gln79=)	IL2RA	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2801550	NM_000417.3(IL2RA):c.73G>A (p.Asp25Asn)	IL2RA (D25N)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2786331	NM_000417.3(IL2RA):c.728-16CT[3]	IL2RA	Microsatellite (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2785669	NM_000417.3(IL2RA):c.368-1G>A	IL2RA	Single nucleotide variant (intron variant +1 more)	Immunodeficiency due to CD25 deficiency	GLikely pathogenic
Select item 2782847	NM_000417.3(IL2RA):c.30G>A (p.Leu10=)	LOC128462384, LOC130003232 +1 more	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2765164	NM_000417.3(IL2RA):c.64+10T>G	IL2RA, LOC130003232	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2763695	NM_000417.3(IL2RA):c.367+18C>T	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2758072	NM_000417.3(IL2RA):c.195G>A (p.Met65Ile)	IL2RA (M65I)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2754044	NM_000417.3(IL2RA):c.584-10T>C	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2747322	NM_000417.3(IL2RA):c.656-12T>A	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2744087	NM_000417.3(IL2RA):c.179G>T (p.Ser60Ile)	IL2RA (S60I)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2730149	NM_000417.3(IL2RA):c.81C>T (p.Asp27=)	IL2RA	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2727807	NM_000417.3(IL2RA):c.807A>G (p.Arg269=)	IL2RA	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2720845	NM_000417.3(IL2RA):c.65-16T>G	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2710479	NM_000417.3(IL2RA):c.65-18G>C	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2688508	NM_000417.3(IL2RA):c.584-109C>T	IL2RA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688212	NM_000417.3(IL2RA):c.256+109T>C	IL2RA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628287	NM_000417.3(IL2RA):c.655+52A>G	IL2RA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628204	NM_000417.3(IL2RA):c.795-92G>A	IL2RA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2627900	NM_000417.3(IL2RA):c.583+58A>G	IL2RA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2418874	NM_000417.3(IL2RA):c.257-20A>G	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2291772	NM_000417.3(IL2RA):c.325A>G (p.Met109Val)	IL2RA (M109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2198911	NM_000417.3(IL2RA):c.655+18C>T	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2188365	NM_000417.3(IL2RA):c.673G>A (p.Glu225Lys)	IL2RA (E129K +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2185956	NM_000417.3(IL2RA):c.729G>A (p.Val243=)	IL2RA	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2184348	NM_000417.3(IL2RA):c.653C>G (p.Thr218Arg)	IL2RA (T146R +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2180984	NM_000417.3(IL2RA):c.263G>C (p.Arg88Pro)	IL2RA (R88P)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2160778	NM_000417.3(IL2RA):c.589G>A (p.Glu197Lys)	IL2RA (E125K +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2139451	NM_000417.3(IL2RA):c.642C>T (p.Leu214=)	IL2RA	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2137038	NM_000417.3(IL2RA):c.714G>A (p.Glu238=)	IL2RA	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2127266	NM_000417.3(IL2RA):c.203C>T (p.Thr68Ile)	IL2RA (T68I)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2117103	NM_000417.3(IL2RA):c.525A>C (p.Thr175=)	IL2RA	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2115607	NM_000417.3(IL2RA):c.256+4A>C	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2109741	NM_000417.3(IL2RA):c.431T>G (p.Val144Gly)	IL2RA (V144G)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2106416	NM_000417.3(IL2RA):c.368-4C>T	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2105210	NM_000417.3(IL2RA):c.256+14C>T	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2104652	NM_000417.3(IL2RA):c.389C>A (p.Pro130Gln)	IL2RA (P130Q)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2096651	NM_000417.3(IL2RA):c.257-3T>C	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2082677	NM_000417.3(IL2RA):c.181G>A (p.Gly61Arg)	IL2RA (G61R)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2059090	NM_000417.3(IL2RA):c.367+9T>C	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2055362	NM_000417.3(IL2RA):c.556G>A (p.Gly186Ser)	IL2RA (G186S)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2030202	NM_000417.3(IL2RA):c.227G>A (p.Trp76Ter)	IL2RA (W76*)	Single nucleotide variant (nonsense)	Immunodeficiency due to CD25 deficiency	GPathogenic
Select item 2010100	NM_000417.3(IL2RA):c.794+16C>G	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 2007903	NM_000417.3(IL2RA):c.815T>A (p.Ile272Asn)	IL2RA (I200N +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 2003926	NM_000417.3(IL2RA):c.583+19G>A	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1994454	NM_000417.3(IL2RA):c.794+10G>A	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1991662	NM_000417.3(IL2RA):c.188T>C (p.Leu63Pro)	IL2RA (L63P)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 1988726	NM_000417.3(IL2RA):c.246C>T (p.Cys82=)	IL2RA	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1988264	NM_000417.3(IL2RA):c.728-10C>G	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1981636	NM_000417.3(IL2RA):c.727+9G>A	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1980625	NM_000417.3(IL2RA):c.356C>T (p.Ala119Val)	IL2RA (A119V)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 1973035	NM_000417.3(IL2RA):c.360C>T (p.Ser120=)	IL2RA	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1971963	NM_000417.3(IL2RA):c.190T>C (p.Tyr64His)	IL2RA (Y64H)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 1965847	NM_000417.3(IL2RA):c.1A>T (p.Met1Leu)	IL2RA, LOC128462384 (M1L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 1963747	NM_000417.3(IL2RA):c.728-8A>G	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1952669	NM_000417.3(IL2RA):c.579T>A (p.Phe193Leu)	IL2RA (F193L)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 1949553	NM_000417.3(IL2RA):c.818A>C (p.Ter273Ser)	IL2RA	Single nucleotide variant (stop lost)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 1948192	NM_000417.3(IL2RA):c.655+1G>A	IL2RA	Single nucleotide variant (intron variant +1 more)	Immunodeficiency due to CD25 deficiency	GLikely pathogenic
Select item 1922101	NM_000417.3(IL2RA):c.10T>C (p.Tyr4His)	IL2RA, LOC128462384 (Y4H)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 1896591	NM_000417.3(IL2RA):c.639C>T (p.Cys213=)	IL2RA	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1716719	NM_000417.3(IL2RA):c.635C>T (p.Ser212Phe)	IL2RA (S140F +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 1678328	NM_000417.3(IL2RA):c.38T>A (p.Phe13Tyr)	IL2RA, LOC130003232 (F13Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1672980	NM_000417.3(IL2RA):c.75C>T (p.Asp25=)	IL2RA	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1670107	NM_000417.3(IL2RA):c.368-19_368-18inv	IL2RA	Inversion (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1663330	NM_000417.3(IL2RA):c.256+10C>T	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1660711	NM_000417.3(IL2RA):c.368-16T>C	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GBenign
Select item 1658826	NM_000417.3(IL2RA):c.368-8T>C	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1643345	NM_000417.3(IL2RA):c.342G>A (p.Gln114=)	IL2RA	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1641542	NM_000417.3(IL2RA):c.99C>T (p.His33=)	IL2RA	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1617214	NM_000417.3(IL2RA):c.279A>G (p.Gln93=)	IL2RA	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1616313	NM_000417.3(IL2RA):c.655+19G>A	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency +1 more	GLikely benign
Select item 1610471	NM_000417.3(IL2RA):c.257-14T>C	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1598333	NM_000417.3(IL2RA):c.655+15A>C	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1588777	NM_000417.3(IL2RA):c.222G>A (p.Ser74=)	IL2RA	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1583083	NM_000417.3(IL2RA):c.256+7G>A	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1578841	NM_000417.3(IL2RA):c.795-16T>C	IL2RA	Single nucleotide variant (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1569808	NM_000417.3(IL2RA):c.696G>A (p.Thr232=)	IL2RA	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1565257	NM_000417.3(IL2RA):c.368-19_368-18delinsAG	IL2RA	Indel (intron variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1564893	NM_000417.3(IL2RA):c.606C>T (p.Ser202=)	IL2RA	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1549249	NM_000417.3(IL2RA):c.282G>A (p.Val94=)	IL2RA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1548674	NM_000417.3(IL2RA):c.645C>G (p.Val215=)	IL2RA	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1547533	NM_000417.3(IL2RA):c.189C>G (p.Leu63=)	IL2RA	Single nucleotide variant (synonymous variant)	Immunodeficiency due to CD25 deficiency	GLikely benign
Select item 1527576	GRCh37/hg19 10p15.1(chr10:5952259-6486611)	FBH1, IL15RA +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1521159	NM_000417.3(IL2RA):c.359G>A (p.Ser120Asn)	IL2RA (S120N)	Single nucleotide variant (missense variant)	Immunodeficiency due to CD25 deficiency	GUncertain significance
Select item 1510192	NM_000417.3(IL2RA):c.554C>T (p.Thr185Ile)	IL2RA (T185I)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency due to CD25 deficiency	GUncertain significance

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