5988[HGNC] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 916546	NM_003855.5(IL18R1):c.-29+1269C>T	IL18R1	Single nucleotide variant (intron variant)	Behcet disease +1 more	GBenign; association
Select item 916545	NM_003855.5(IL18R1):c.-29+2476T>G	IL18R1	Single nucleotide variant (intron variant)	Behcet disease	Gassociation
Select item 783336	NM_003855.5(IL18R1):c.21C>G (p.Pro7=)	IL18R1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3109202	NM_003855.5(IL18R1):c.34G>C (p.Val12Leu)	IL18R1 (V12L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2344041	NM_003855.5(IL18R1):c.42A>G (p.Ile14Met)	IL18R1 (I14M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 916547	NM_003855.5(IL18R1):c.59-1038C>A	IL18R1	Single nucleotide variant (intron variant)	Behcet disease	Gassociation
Select item 1120027	NM_003855.5(IL18R1):c.302+1284C>T	IL18R1	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 3109203	NM_003855.5(IL18R1):c.476A>T (p.Lys159Ile)	IL18R1 (K159I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787774	NM_003855.5(IL18R1):c.509C>T (p.Thr170Met)	IL18R1 (T170M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2528477	NM_003855.5(IL18R1):c.628C>G (p.Arg210Gly)	IL18R1 (R55G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389023	NM_003855.5(IL18R1):c.628C>T (p.Arg210Cys)	IL18R1 (R55C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109204	NM_003855.5(IL18R1):c.667A>C (p.Asn223His)	IL18R1 (N68H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334932	NM_003855.5(IL18R1):c.754G>A (p.Gly252Arg)	IL18R1 (G97R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120030	NM_003855.5(IL18R1):c.810-56C>A	IL18R1	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 2551773	NM_003855.5(IL18R1):c.908C>T (p.Thr303Met)	IL18R1 (T303M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558900	NM_003855.5(IL18R1):c.939G>C (p.Leu313Phe)	IL18R1 (L158F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109201	NM_003855.5(IL18R1):c.1354G>T (p.Val452Phe)	IL18R1 (V202F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236986	NM_003855.5(IL18R1):c.1384G>A (p.Glu462Lys)	IL18R1 (E306K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309970	NM_003855.5(IL18R1):c.1408A>G (p.Lys470Glu)	IL18R1 (K220E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306029	NM_003855.5(IL18R1):c.1471C>G (p.Leu491Val)	IL18R1 (L336V +5 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 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: 42