IL22RA1[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2688539	NM_021258.4(IL22RA1):c.*81C>T	IL22RA1, LOC122056794	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 2264386	NM_021258.4(IL22RA1):c.1720T>C (p.Ser574Pro)	IL22RA1 (S574P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546552	NM_021258.4(IL22RA1):c.1568C>T (p.Ser523Leu)	IL22RA1 (S523L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2688377	NM_021258.4(IL22RA1):c.1552C>G (p.Arg518Gly)	IL22RA1 (R518G)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2592127	NM_021258.4(IL22RA1):c.1526T>A (p.Met509Lys)	IL22RA1 (M509K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327546	NM_021258.4(IL22RA1):c.1499C>T (p.Ser500Phe)	IL22RA1 (S500F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353816	NM_021258.4(IL22RA1):c.1463C>T (p.Thr488Ile)	IL22RA1 (T488I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267572	NM_021258.4(IL22RA1):c.1352C>A (p.Thr451Asn)	IL22RA1 (T451N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340488	NM_021258.4(IL22RA1):c.1295A>G (p.Gln432Arg)	IL22RA1 (Q432R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 775524	NM_021258.4(IL22RA1):c.1219A>G (p.Met407Val)	IL22RA1 (M407V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2458703	NM_021258.4(IL22RA1):c.1213G>A (p.Val405Ile)	IL22RA1 (V405I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711835	NM_021258.4(IL22RA1):c.1188G>A (p.Pro396=)	IL22RA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2332550	NM_021258.4(IL22RA1):c.1032G>T (p.Gln344His)	IL22RA1 (Q344H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291771	NM_021258.4(IL22RA1):c.1018G>A (p.Val340Met)	IL22RA1 (V340M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2347053	NM_021258.4(IL22RA1):c.953G>A (p.Arg318Gln)	IL22RA1 (R318Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2688433	NM_021258.4(IL22RA1):c.936C>T (p.Pro312=)	IL22RA1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2331517	NM_021258.4(IL22RA1):c.919T>C (p.Ser307Pro)	IL22RA1 (S307P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461247	NM_021258.4(IL22RA1):c.909G>T (p.Gln303His)	IL22RA1 (Q303H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357539	NM_021258.4(IL22RA1):c.844G>A (p.Val282Ile)	IL22RA1 (V282I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314868	NM_021258.4(IL22RA1):c.833T>G (p.Ile278Ser)	IL22RA1 (I278S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264972	NM_021258.4(IL22RA1):c.806T>A (p.Val269Asp)	IL22RA1 (V269D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394165	NM_021258.4(IL22RA1):c.803G>A (p.Arg268Gln)	IL22RA1 (R268Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589660	NM_021258.4(IL22RA1):c.776C>T (p.Ala259Val)	IL22RA1 (A259V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548029	NM_021258.4(IL22RA1):c.757T>C (p.Tyr253His)	IL22RA1 (Y253H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538771	NM_021258.4(IL22RA1):c.697G>A (p.Gly233Arg)	IL22RA1 (G233R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2688472	NM_021258.4(IL22RA1):c.613G>A (p.Val205Ile)	IL22RA1 (V205I)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2402767	NM_021258.4(IL22RA1):c.458G>A (p.Arg153Gln)	IL22RA1 (R153Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2552355	NM_021258.4(IL22RA1):c.442G>A (p.Ala148Thr)	IL22RA1 (A148T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2688374	NM_021258.4(IL22RA1):c.435A>C (p.Pro145=)	IL22RA1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2322048	NM_021258.4(IL22RA1):c.431C>T (p.Thr144Met)	IL22RA1 (T144M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711820	NM_021258.4(IL22RA1):c.388T>C (p.Ser130Pro)	IL22RA1 (S130P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2688450	NM_021258.4(IL22RA1):c.355+58G>A	IL22RA1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2241619	NM_021258.4(IL22RA1):c.266C>T (p.Thr89Met)	IL22RA1 (T89M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353391	NM_021258.4(IL22RA1):c.233C>T (p.Ser78Phe)	IL22RA1 (S78F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213382	NM_021258.4(IL22RA1):c.218G>A (p.Arg73Gln)	IL22RA1 (R73Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532275	NM_021258.4(IL22RA1):c.207G>C (p.Lys69Asn)	IL22RA1 (K69N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277157	NM_021258.4(IL22RA1):c.181G>A (p.Gly61Arg)	IL22RA1 (G61R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2688503	NM_021258.4(IL22RA1):c.177-55G>A	IL22RA1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688368	NM_021258.4(IL22RA1):c.135G>A (p.Pro45=)	IL22RA1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2409070	NM_021258.4(IL22RA1):c.130G>A (p.Gly44Arg)	IL22RA1 (G44R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368809	NM_021258.4(IL22RA1):c.49G>C (p.Ala17Pro)	IL22RA1 (A17P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2688372	NM_021258.4(IL22RA1):c.44-105G>A	IL22RA1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1809506	GRCh37/hg19 1p36.11(chr1:24409165-24492808)x1	IFNLR1, IL22RA1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1809397	GRCh37/hg19 1p36.11(chr1:24111388-24686443)x3	CNR2, FUCA1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1809272	GRCh37/hg19 1p36.11(chr1:24111522-24614856)x3	CNR2, FUCA1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1808979	GRCh37/hg19 1p36.11(chr1:24363507-24875537)x3	GRHL3, IFNLR1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 929347	GRCh37/hg19 1p36.11(chr1:24394811-25148686)x3	CLIC4, GRHL3 +8 more	Copy number gain	See cases	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	C1orf159, C1orf167 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 54