IL18RAP[gene] and "single gene"[properties] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2366121	NM_001393487.1(IL18RAP):c.37G>T (p.Ala13Ser)	IL18RAP (A13S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2255078	NM_001393487.1(IL18RAP):c.82A>G (p.Lys28Glu)	IL18RAP (K28E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319728	NM_001393487.1(IL18RAP):c.97A>G (p.Thr33Ala)	IL18RAP (T33A)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3285792	NM_001393487.1(IL18RAP):c.144A>C (p.Leu48Phe)	IL18RAP (L48F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3285797	NM_001393487.1(IL18RAP):c.168C>A (p.Phe56Leu)	IL18RAP (F56L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2542154	NM_001393487.1(IL18RAP):c.364G>C (p.Gly122Arg)	IL18RAP (G122R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2547550	NM_001393487.1(IL18RAP):c.431T>C (p.Ile144Thr)	IL18RAP (I2T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559246	NM_001393487.1(IL18RAP):c.437A>C (p.Glu146Ala)	IL18RAP (E146A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255436	NM_001393487.1(IL18RAP):c.490G>T (p.Asp164Tyr)	IL18RAP (D164Y +1 more)	Single nucleotide variant (missense variant)	not specified	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 3285790	NM_001393487.1(IL18RAP):c.614G>A (p.Arg205Gln)	IL18RAP (R205Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not specified	GUncertain significance
Select item 2488199	NM_001393487.1(IL18RAP):c.631G>A (p.Val211Ile)	IL18RAP (V211I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109207	NM_001393487.1(IL18RAP):c.677C>T (p.Ser226Leu)	IL18RAP (S226L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109208	NM_001393487.1(IL18RAP):c.724A>G (p.Thr242Ala)	IL18RAP (T100A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547310	NM_001393487.1(IL18RAP):c.764A>T (p.Asp255Val)	IL18RAP (D113V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353191	NM_001393487.1(IL18RAP):c.773A>G (p.Glu258Gly)	IL18RAP (E258G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244452	NM_001393487.1(IL18RAP):c.832G>A (p.Gly278Ser)	IL18RAP (G136S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109209	NM_001393487.1(IL18RAP):c.868T>C (p.Tyr290His)	IL18RAP (Y148H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265609	NM_001393487.1(IL18RAP):c.904G>T (p.Val302Leu)	IL18RAP (V160L +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3109210	NM_001393487.1(IL18RAP):c.962T>A (p.Ile321Asn)	IL18RAP (I179N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285796	NM_001393487.1(IL18RAP):c.1006G>A (p.Val336Ile)	IL18RAP (V336I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3285795	NM_001393487.1(IL18RAP):c.1177C>T (p.Arg393Trp)	IL18RAP (R251W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109205	NM_001393487.1(IL18RAP):c.1234G>A (p.Val412Ile)	IL18RAP (V270I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3285791	NM_001393487.1(IL18RAP):c.1399A>G (p.Ile467Val)	IL18RAP (I467V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515572	NM_001393487.1(IL18RAP):c.1487C>G (p.Ala496Gly)	IL18RAP (A354G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319373	NM_001393487.1(IL18RAP):c.1541T>A (p.Phe514Tyr)	IL18RAP (F372Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280170	NM_001393487.1(IL18RAP):c.1642A>G (p.Asn548Asp)	IL18RAP (N406D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590049	NM_001393487.1(IL18RAP):c.1649G>A (p.Arg550Lys)	IL18RAP (R408K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375051	NM_001393487.1(IL18RAP):c.1697G>A (p.Gly566Glu)	IL18RAP (G424E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109206	NM_001393487.1(IL18RAP):c.1724C>T (p.Thr575Ile)	IL18RAP (T433I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3285789	NM_001393487.1(IL18RAP):c.1732A>T (p.Ile578Phe)	IL18RAP (I578F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 36