3553[geneid] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3109230	NM_000576.3(IL1B):c.668A>G (p.Asn223Ser)	IL1B (N223S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916339	NM_000576.3(IL1B):c.630G>A (p.Lys210=)	IL1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2392768	NM_000576.3(IL1B):c.562G>A (p.Val188Met)	IL1B (V188M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109229	NM_000576.3(IL1B):c.423A>C (p.Glu141Asp)	IL1B (E141D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109228	NM_000576.3(IL1B):c.364C>G (p.Leu122Val)	IL1B (L122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 869137	NM_000576.3(IL1B):c.315C>T (p.Phe105=)	IL1B	Single nucleotide variant (synonymous variant)	Antisynthetase syndrome +3 more	GBenign; Affects; association; other
Select item 2651287	NM_000576.3(IL1B):c.309C>A (p.Ile103=)	IL1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2267927	NM_000576.3(IL1B):c.303A>T (p.Glu101Asp)	IL1B (E101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533024	NM_000576.3(IL1B):c.238C>T (p.Pro80Ser)	IL1B (P80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779077	NM_000576.3(IL1B):c.171C>T (p.Tyr57=)	IL1B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2520520	NM_000576.3(IL1B):c.160G>A (p.Asp54Asn)	IL1B (D54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210683	NM_000576.3(IL1B):c.145C>A (p.Gln49Lys)	IL1B (Q49K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780097	NM_000576.3(IL1B):c.138C>T (p.Gly46=)	IL1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2258916	NM_000576.3(IL1B):c.114C>A (p.Asp38Glu)	IL1B (D38E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050880	NM_000576.3(IL1B):c.100-5C>T	IL1B	Single nucleotide variant (intron variant)	IL1B-related disorder	GLikely benign
Select item 772847	NM_000576.3(IL1B):c.100-10C>T	IL1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 120093	NM_000576.3(IL1B):c.99+383G>C	IL1B	Single nucleotide variant (intron variant)	Coronary heart disease, susceptibility to, 2	Gnot provided
Select item 2260904	NM_000576.3(IL1B):c.92A>G (p.Gln31Arg)	IL1B (Q31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049443	NM_000576.3(IL1B):c.28G>A (p.Glu10Lys)	IL1B (E10K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14671	NC_000002.12:g.112836810G>A	IL1B	Single nucleotide variant	Gastric cancer susceptibility after h. pylori infection	Grisk factor
Select item 869138	NC_000002.12:g.112837290A>G	IL1B	Single nucleotide variant	Antisynthetase syndrome	Gassociation
Select item 869139	NC_000002.12:g.112838252C>G	IL1B	Single nucleotide variant	Antisynthetase syndrome	Gassociation
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	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 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1341214	GRCh37/hg19 2q13(chr2:113295194-114085649)x3	CHCHD5, CKAP2L +14 more	Copy number gain	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
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 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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 253673	GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	BUB1, PSD4 +53 more	Copy number loss	See cases	GPathogenic
Select item 253541	GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1	TMEM87B, IL37 +40 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic

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Items: 36