"Ambry Genetics"[submitter] AND "IL1R1-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2294156	NM_000877.4(IL1R1):c.958A>G (p.Ile320Val)	IL1R1-AS1, IL1R1 (I320V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490296	NM_000877.4(IL1R1):c.1207T>A (p.Cys403Ser)	IL1R1, IL1R1-AS1 (C259S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2209988	NM_000877.4(IL1R1):c.1442A>C (p.Asp481Ala)	IL1R1, IL1R1-AS1 (D246A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486934	NM_000877.4(IL1R1):c.1540C>T (p.Arg514Cys)	IL1R1, IL1R1-AS1 (R331C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204025	NM_000877.4(IL1R1):c.1625G>A (p.Arg542Gln)	IL1R1, IL1R1-AS1 (R398Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557943	NM_000877.4(IL1R1):c.1628G>A (p.Arg543Gln)	IL1R1, IL1R1-AS1 (R308Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

ClinVar