ClinVar for Gene (Select 8808) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285826	NM_003854.4(IL1RL2):c.1168C>A (p.Pro390Thr)	IL1RL2 (P239T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285825	NM_003854.4(IL1RL2):c.866C>T (p.Ser289Phe)	IL1RL2 (S289F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285824	NM_003854.4(IL1RL2):c.451C>T (p.Pro151Ser)	IL1RL2 (P151S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285822	NM_003854.4(IL1RL2):c.1025T>C (p.Leu342Pro)	IL1RL2 (L224P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109282	NM_003854.4(IL1RL2):c.977T>C (p.Ile326Thr)	IL1RL2 (I184T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109281	NM_003854.4(IL1RL2):c.881A>G (p.Asn294Ser)	IL1RL2 (N152S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109280	NM_003854.4(IL1RL2):c.793G>T (p.Val265Phe)	IL1RL2 (V123F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109279	NM_003854.4(IL1RL2):c.473C>A (p.Pro158Gln)	IL1RL2 (P158Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109278	NM_003854.4(IL1RL2):c.268T>A (p.Ser90Thr)	IL1RL2 (S90T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109277	NM_003854.4(IL1RL2):c.1572G>A (p.Met524Ile)	IL1RL2 (M406I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109276	NM_003854.4(IL1RL2):c.1522C>T (p.His508Tyr)	IL1RL2 (H366Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109274	NM_003854.4(IL1RL2):c.1352T>C (p.Ile451Thr)	IL1RL2 (I333T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109273	NM_003854.4(IL1RL2):c.1306A>G (p.Asn436Asp)	IL1RL2 (N285D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109272	NM_003854.4(IL1RL2):c.1213G>A (p.Val405Met)	IL1RL2 (V254M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109271	NM_003854.4(IL1RL2):c.1055T>C (p.Val352Ala)	IL1RL2 (V352A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109270	NM_003854.4(IL1RL2):c.1030G>A (p.Ala344Thr)	IL1RL2 (A202T +3 more)	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 2617945	NM_003854.4(IL1RL2):c.800A>G (p.Asn267Ser)	IL1RL2 (N125S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611751	NM_003854.4(IL1RL2):c.437G>T (p.Cys146Phe)	IL1RL2 (C146F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610144	NM_003854.4(IL1RL2):c.1127C>A (p.Thr376Asn)	IL1RL2 (T376N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593208	NM_003854.4(IL1RL2):c.253A>G (p.Met85Val)	IL1RL2 (M85V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2591363	NM_003854.4(IL1RL2):c.871C>T (p.Arg291Trp)	IL1RL2 (R140W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548107	NM_003854.4(IL1RL2):c.257A>T (p.Glu86Val)	IL1RL2 (E86V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537312	NM_003854.4(IL1RL2):c.1553C>G (p.Thr518Arg)	IL1RL2 (T367R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517035	NM_003854.4(IL1RL2):c.365T>C (p.Ile122Thr)	IL1RL2 (I122T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507466	NM_003854.4(IL1RL2):c.1610C>T (p.Pro537Leu)	IL1RL2 (P386L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485563	NM_003854.4(IL1RL2):c.86A>T (p.Asn29Ile)	IL1RL2 (N29I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471731	NM_003854.4(IL1RL2):c.1479C>G (p.Asp493Glu)	IL1RL2 (D375E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398889	NM_003854.4(IL1RL2):c.1021G>A (p.Gly341Arg)	IL1RL2 (G199R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375683	NM_003854.4(IL1RL2):c.919A>T (p.Met307Leu)	IL1RL2 (M156L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338537	NM_003854.4(IL1RL2):c.995C>T (p.Pro332Leu)	IL1RL2 (P181L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322047	NM_003854.4(IL1RL2):c.904T>C (p.Phe302Leu)	IL1RL2 (F151L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319588	NM_003854.4(IL1RL2):c.125G>A (p.Cys42Tyr)	IL1RL2 (C42Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2254515	NM_003854.4(IL1RL2):c.846A>C (p.Glu282Asp)	IL1RL2 (E164D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233063	NM_003854.4(IL1RL2):c.1069A>C (p.Asn357His)	IL1RL2 (N206H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223606	NM_003854.4(IL1RL2):c.1324G>A (p.Val442Ile)	IL1RL2 (V442I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215620	NM_003854.4(IL1RL2):c.1529C>T (p.Ala510Val)	IL1RL2 (A368V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214914	NM_003854.4(IL1RL2):c.921G>T (p.Met307Ile)	IL1RL2 (M165I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206662	NM_003854.4(IL1RL2):c.1298C>T (p.Ala433Val)	IL1RL2 (A282V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203796	NM_003854.4(IL1RL2):c.1354G>T (p.Val452Leu)	IL1RL2 (V301L +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 1120040	NM_003854.4(IL1RL2):c.1678+1065T>C	IL1RL2	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 1120034	NM_003854.4(IL1RL2):c.-12-281C>A	IL1RL2	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 787240	NM_003854.4(IL1RL2):c.710T>C (p.Ile237Thr)	IL1RL2 (I119T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 786485	NM_003854.4(IL1RL2):c.1054G>A (p.Val352Ile)	IL1RL2 (V201I +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 736632	NM_003854.4(IL1RL2):c.1611G>T (p.Pro537=)	IL1RL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708748	NM_003854.4(IL1RL2):c.1665C>T (p.Cys555=)	IL1RL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
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 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 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	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 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 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 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 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

ClinVar

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Links from Gene

Items: 67