IL18RAP[gene] - ClinVar

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Items: 45

	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	LINC01935, LINC02946 +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	LOC129934515, LOC129934516 +241 more	Copy number gain	See cases	GPathogenic
Select item 145646	GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1	C2orf49, C2orf49-DT +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 2366121	NM_001393487.1(IL18RAP):c.37G>T (p.Ala13Ser)	IL18RAP (A13S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2255078	NM_001393487.1(IL18RAP):c.82A>G (p.Lys28Glu)	IL18RAP (K28E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2319728	NM_001393487.1(IL18RAP):c.97A>G (p.Thr33Ala)	IL18RAP (T33A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2542154	NM_001393487.1(IL18RAP):c.364G>C (p.Gly122Arg)	IL18RAP (G122R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2547550	NM_001393487.1(IL18RAP):c.431T>C (p.Ile144Thr)	IL18RAP (I2T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559246	NM_001393487.1(IL18RAP):c.437A>C (p.Glu146Ala)	IL18RAP (E146A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255436	NM_001393487.1(IL18RAP):c.490G>T (p.Asp164Tyr)	IL18RAP (D164Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1120024	NM_001393487.1(IL18RAP):c.579+293T>C	IL18RAP	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 750312	NM_001393487.1(IL18RAP):c.618C>T (p.Ile206=)	IL18RAP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407712	NM_001393487.1(IL18RAP):c.619G>A (p.Val207Ile)	IL18RAP (V207I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488199	NM_001393487.1(IL18RAP):c.631G>A (p.Val211Ile)	IL18RAP (V211I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2547310	NM_001393487.1(IL18RAP):c.764A>T (p.Asp255Val)	IL18RAP (D113V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353191	NM_001393487.1(IL18RAP):c.773A>G (p.Glu258Gly)	IL18RAP (E258G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244452	NM_001393487.1(IL18RAP):c.832G>A (p.Gly278Ser)	IL18RAP (G136S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265609	NM_001393487.1(IL18RAP):c.904G>T (p.Val302Leu)	IL18RAP (V160L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1120025	NM_001393487.1(IL18RAP):c.920+241T>A	IL18RAP	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 2292755	NM_001393487.1(IL18RAP):c.953A>G (p.Glu318Gly)	IL18RAP (E176G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708523	NM_001393487.1(IL18RAP):c.1048G>A (p.Val350Ile)	IL18RAP (V350I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2515572	NM_001393487.1(IL18RAP):c.1487C>G (p.Ala496Gly)	IL18RAP (A354G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319373	NM_001393487.1(IL18RAP):c.1541T>A (p.Phe514Tyr)	IL18RAP (F372Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280170	NM_001393487.1(IL18RAP):c.1642A>G (p.Asn548Asp)	IL18RAP (N406D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590049	NM_001393487.1(IL18RAP):c.1649G>A (p.Arg550Lys)	IL18RAP (R408K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375051	NM_001393487.1(IL18RAP):c.1697G>A (p.Gly566Glu)	IL18RAP (G424E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +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: 45