"Ambry Genetics"[submitter] AND "IL18R1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3285787	NM_003855.5(IL18R1):c.112C>G (p.Leu38Val)	IL18R1 (L38V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 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 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 3285788	NM_003855.5(IL18R1):c.967C>T (p.Pro323Ser)	IL18R1 (P168S +5 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