IL1RL1[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 152946	GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3	C2orf49, C2orf49-DT +176 more	Copy number gain	See cases	GUncertain significance
Select item 154902	GRCh38/hg38 2q11.2-12.2(chr2:101234070-105679157)x1	C2orf49, C2orf49-DT +111 more	Copy number loss	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 145646	GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1	TMEM182, C2orf49 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 1120032	NM_016232.5(IL1RL1):c.-150+2865A>G	IL1RL1	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 781683	NM_016232.5(IL1RL1):c.19G>T (p.Ala7Ser)	IL1RL1 (A7S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3285818	NM_016232.5(IL1RL1):c.53C>G (p.Ala18Gly)	IL1RL1 (A18G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2551414	NM_016232.5(IL1RL1):c.134C>A (p.Thr45Asn)	IL1RL1 (T45N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3026659	NM_016232.5(IL1RL1):c.141T>C (p.Asp47=)	IL1RL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2299875	NM_016232.5(IL1RL1):c.190C>T (p.Arg64Cys)	IL1RL1 (R64C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280867	NM_016232.5(IL1RL1):c.245C>G (p.Ser82Cys)	IL1RL1 (S82C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2516577	NM_016232.5(IL1RL1):c.298G>A (p.Ala100Thr)	IL1RL1 (A100T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3109265	NM_016232.5(IL1RL1):c.367T>A (p.Ser123Thr)	IL1RL1 (S6T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 767809	NM_016232.5(IL1RL1):c.369T>C (p.Ser123=)	IL1RL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2320209	NM_016232.5(IL1RL1):c.403A>G (p.Thr135Ala)	IL1RL1 (T135A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769571	NM_016232.5(IL1RL1):c.458C>T (p.Ala153Val)	IL1RL1 (A153V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2366670	NM_016232.5(IL1RL1):c.486C>A (p.His162Gln)	IL1RL1 (H162Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1629553	NM_016232.5(IL1RL1):c.526G>A (p.Ala176Thr)	IL1RL1 (A176T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2548532	NM_016232.5(IL1RL1):c.529G>A (p.Gly177Ser)	IL1RL1 (G60S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109266	NM_016232.5(IL1RL1):c.566G>T (p.Gly189Val)	IL1RL1 (G189V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467554	NM_016232.5(IL1RL1):c.584C>T (p.Thr195Met)	IL1RL1 (T78M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472299	NM_016232.5(IL1RL1):c.601A>G (p.Thr201Ala)	IL1RL1 (T201A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 756392	NM_016232.5(IL1RL1):c.603G>T (p.Thr201=)	IL1RL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2588902	NM_016232.5(IL1RL1):c.608A>G (p.Lys203Arg)	IL1RL1 (K203R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487464	NM_016232.5(IL1RL1):c.624T>G (p.Phe208Leu)	IL1RL1 (F208L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711194	NM_016232.5(IL1RL1):c.646G>A (p.Ala216Thr)	IL1RL1 (A216T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 3109268	NM_016232.5(IL1RL1):c.691G>A (p.Ala231Thr)	IL1RL1 (A114T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3285820	NM_016232.5(IL1RL1):c.755A>T (p.Gln252Leu)	IL1RL1 (Q135L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550490	NM_016232.5(IL1RL1):c.821A>G (p.Gln274Arg)	IL1RL1 (Q157R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109269	NM_016232.5(IL1RL1):c.842C>A (p.Ala281Asp)	IL1RL1 (A281D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 767810	NM_016232.5(IL1RL1):c.873C>T (p.Asp291=)	IL1RL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2234283	NM_016232.5(IL1RL1):c.874G>A (p.Val292Met)	IL1RL1 (V292M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354867	NM_016232.5(IL1RL1):c.891A>T (p.Leu297Phe)	IL1RL1 (L180F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285821	NM_016232.5(IL1RL1):c.902A>C (p.Tyr301Ser)	IL1RL1 (Y184S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598585	NM_016232.5(IL1RL1):c.904G>A (p.Asp302Asn)	IL1RL1 (D185N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285819	NM_016232.5(IL1RL1):c.926A>G (p.His309Arg)	IL1RL1 (H192R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1120026	NM_016232.5(IL1RL1):c.970+406C>A	IL1RL1	Single nucleotide variant (non-coding transcript variant +2 more)	Ascending aortic dissection	Gassociation
Select item 2254264	NM_016232.5(IL1RL1):c.975T>G (p.Asp325Glu)	IL1RL1 (D325E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711195	NM_016232.5(IL1RL1):c.985A>G (p.Ile329Val)	IL1RL1 (I329V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2291289	NM_016232.5(IL1RL1):c.1055T>C (p.Met352Thr)	IL1RL1 (M352T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367841	NM_016232.5(IL1RL1):c.1130A>G (p.Tyr377Cys)	IL1RL1 (Y377C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274211	NM_016232.5(IL1RL1):c.1158C>G (p.Asn386Lys)	IL1RL1 (N386K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232239	NM_016232.5(IL1RL1):c.1186C>T (p.Arg396Cys)	IL1RL1 (R396C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767811	NM_016232.5(IL1RL1):c.1187G>A (p.Arg396His)	IL1RL1 (R396H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2342309	NM_016232.5(IL1RL1):c.1255A>G (p.Ile419Val)	IL1RL1 (I419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120023	NM_016232.5(IL1RL1):c.1285+361G>A	IL1RL1	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 1120037	NM_016232.5(IL1RL1):c.1286-583T>C	IL1RL1	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 3109263	NM_016232.5(IL1RL1):c.1303G>A (p.Glu435Lys)	IL1RL1 (E435K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478202	NM_016232.5(IL1RL1):c.1328G>A (p.Arg443Gln)	IL1RL1 (R443Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786403	NM_016232.5(IL1RL1):c.1329G>A (p.Arg443=)	IL1RL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2622740	NM_016232.5(IL1RL1):c.1391T>C (p.Val464Ala)	IL1RL1 (V464A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281836	NM_016232.5(IL1RL1):c.1414C>A (p.Gln472Lys)	IL1RL1 (Q472K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727072	NM_016232.5(IL1RL1):c.1449G>C (p.Glu483Asp)	IL1RL1 (E483D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 713563	NM_016232.5(IL1RL1):c.1533G>A (p.Lys511=)	IL1RL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 740702	NM_016232.5(IL1RL1):c.1557T>C (p.Asn519=)	IL1RL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1120038	NM_016232.5(IL1RL1):c.1575T>C (p.Ser525=)	IL1RL1	Single nucleotide variant (synonymous variant)	Ascending aortic dissection	Gassociation
Select item 2292373	NM_016232.5(IL1RL1):c.1591G>T (p.Val531Leu)	IL1RL1 (V531L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370576	NM_016232.5(IL1RL1):c.1625C>T (p.Pro542Leu)	IL1RL1 (P542L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380100	NM_016232.5(IL1RL1):c.1640G>C (p.Ser547Thr)	IL1RL1 (S547T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684631	GRCh37/hg19 2q11.2-12.2(chr2:101933587-106547126)x1	C2orf49, CREG2 +18 more	Copy number loss	not provided	GUncertain significance
Select item 1809233	GRCh37/hg19 2q11.2-12.1(chr2:102443532-105019078)x1	IL18R1, IL18RAP +9 more	Copy number loss	not provided	GUncertain significance
Select item 1807953	GRCh37/hg19 2q11.2-12.1(chr2:102579520-103179707)x1	IL18R1, IL18RAP +5 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340175	GRCh37/hg19 2q11.2-12.2(chr2:101699537-106383710)x1	C2orf49, CNOT11 +21 more	Copy number loss	not provided	GUncertain significance
Select item 688268	GRCh37/hg19 2q12.1-12.2(chr2:102917327-106755564)x1	C2orf49, ECRG4 +14 more	Copy number loss	not provided	GUncertain significance
Select item 687771	GRCh37/hg19 2q11.2-12.1(chr2:102248064-103361749)x3	IL18R1, IL18RAP +8 more	Copy number gain	not provided	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic

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Items: 78