ClinVar for Gene (Select 56300) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3109414	NM_019618.4(IL36G):c.419T>C (p.Ile140Thr)	IL36G (I140T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109413	NM_019618.4(IL36G):c.38G>C (p.Arg13Thr)	IL36G (R13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109412	NM_019618.4(IL36G):c.340G>A (p.Val114Met)	IL36G (V114M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109411	NM_019618.4(IL36G):c.184A>G (p.Lys62Glu)	IL36G (K62E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3062603	GRCh37/hg19 2q13(chr2:113717386-113892480)x1	IL1F10, IL1RN +4 more	Copy number loss	not specified	GUncertain significance
Select item 2554874	NM_019618.4(IL36G):c.92A>C (p.Asn31Thr)	IL36G (N31T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530775	NM_019618.4(IL36G):c.361C>T (p.Arg121Cys)	IL36G (R121C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489134	NM_019618.4(IL36G):c.140G>A (p.Arg47Gln)	IL36G (R47Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399283	NM_019618.4(IL36G):c.178A>G (p.Thr60Ala)	IL36G (T25A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354904	NM_019618.4(IL36G):c.259T>C (p.Tyr87His)	IL36G (Y87H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324143	NM_019618.4(IL36G):c.217G>A (p.Asp73Asn)	IL36G (D73N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1340383	GRCh37/hg19 2q13-14.1(chr2:113609489-115817535)x3	ACTR3, CBWD2 +13 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 1339474	NC_000002.12:g.(?_112924872)_(113105404_?)del	IL1F10, IL1RN +11 more	Deletion	Endometriosis	GUncertain significance
Select item 686299	GRCh37/hg19 2q13(chr2:113717386-113892774)x1	IL1F10, IL1RN +4 more	Copy number loss	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 562577	GRCh37/hg19 2q13(chr2:113698135-114064263)x1	IL36G, IL1RN +6 more	Copy number loss	not provided	GUncertain significance
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 394055	GRCh37/hg19 2q13(chr2:113735617-113891118)x1	IL1F10, IL1RN +4 more	Copy number loss	See cases	GBenign
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
Select item 152532	GRCh38/hg38 2q14.1(chr2:112878355-113035551)x3	IL36A, IL36B +9 more	Copy number gain	See cases	GLikely benign
Select item 59937	GRCh38/hg38 2q14.1(chr2:112924872-113105404)x1	IL1F10, IL1RN +11 more	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 32