IFNLR1[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 3056961	NM_170743.4(IFNLR1):c.1540T>C (p.Leu514=)	IFNLR1	Single nucleotide variant (synonymous variant +1 more)	IFNLR1-related disorder	GBenign
Select item 2596467	NM_170743.4(IFNLR1):c.1535G>A (p.Arg512Gln)	IFNLR1 (R483Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285385	NM_170743.4(IFNLR1):c.1534C>T (p.Arg512Trp)	IFNLR1 (R483W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108314	NM_170743.4(IFNLR1):c.1522G>A (p.Glu508Lys)	IFNLR1 (E479K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638493	NM_170743.4(IFNLR1):c.1497G>A (p.Trp499Ter)	IFNLR1 (W470* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2636762	NM_170743.4(IFNLR1):c.1487C>G (p.Ala496Gly)	IFNLR1 (A467G +1 more)	Single nucleotide variant (missense variant +1 more)	IFNLR1-related disorder	GUncertain significance
Select item 2216687	NM_170743.4(IFNLR1):c.1487C>T (p.Ala496Val)	IFNLR1 (A467V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285387	NM_170743.4(IFNLR1):c.1481G>C (p.Ser494Thr)	IFNLR1 (S494T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108313	NM_170743.4(IFNLR1):c.1479C>A (p.Asp493Glu)	IFNLR1 (D493E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285386	NM_170743.4(IFNLR1):c.1301C>T (p.Ser434Leu)	IFNLR1 (S405L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3285383	NM_170743.4(IFNLR1):c.1253G>A (p.Gly418Glu)	IFNLR1 (G418E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516285	NM_170743.4(IFNLR1):c.1183G>C (p.Asp395His)	IFNLR1 (D395H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222803	NM_170743.4(IFNLR1):c.1144G>C (p.Ala382Pro)	IFNLR1 (A382P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285388	NM_170743.4(IFNLR1):c.1127C>A (p.Pro376Gln)	IFNLR1 (P347Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3108312	NM_170743.4(IFNLR1):c.1100C>T (p.Ser367Leu)	IFNLR1 (S338L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043616	NM_170743.4(IFNLR1):c.1084G>C (p.Ala362Pro)	IFNLR1 (A333P +1 more)	Single nucleotide variant (missense variant +1 more)	IFNLR1-related disorder	GLikely benign
Select item 2276790	NM_170743.4(IFNLR1):c.1077C>G (p.His359Gln)	IFNLR1 (H330Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261423	NM_170743.4(IFNLR1):c.1034A>G (p.Glu345Gly)	IFNLR1 (E345G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035712	NM_170743.4(IFNLR1):c.988G>A (p.Asp330Asn)	IFNLR1 (D301N +1 more)	Single nucleotide variant (missense variant +1 more)	IFNLR1-related disorder	GBenign
Select item 3039947	NM_170743.4(IFNLR1):c.963C>A (p.Asp321Glu)	IFNLR1 (D292E +1 more)	Single nucleotide variant (missense variant +1 more)	IFNLR1-related disorder	GLikely benign
Select item 2226465	NM_170743.4(IFNLR1):c.946A>G (p.Thr316Ala)	IFNLR1 (T287A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2484873	NM_170743.4(IFNLR1):c.929C>A (p.Ala310Asp)	IFNLR1 (A281D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108319	NM_170743.4(IFNLR1):c.925A>G (p.Arg309Gly)	IFNLR1 (R280G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209092	NM_170743.4(IFNLR1):c.898A>G (p.Arg300Gly)	IFNLR1 (R271G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285390	NM_170743.4(IFNLR1):c.877T>G (p.Cys293Gly)	IFNLR1 (C293G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3285389	NM_170743.4(IFNLR1):c.858C>G (p.Ser286=)	IFNLR1 (R243G)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3351709	NM_170743.4(IFNLR1):c.843C>T (p.Pro281=)	IFNLR1 (Q238*)	Single nucleotide variant (synonymous variant +2 more)	IFNLR1-related disorder	GLikely benign
Select item 2570298	NM_170743.4(IFNLR1):c.818C>T (p.Thr273Ile)	IFNLR1 (T273I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2631985	NM_170743.4(IFNLR1):c.794G>A (p.Arg265Gln)	IFNLR1 (R265Q)	Single nucleotide variant (missense variant +1 more)	IFNLR1-related disorder	GUncertain significance
Select item 2324930	NM_170743.4(IFNLR1):c.686T>A (p.Phe229Tyr)	IFNLR1 (F229Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716043	NM_170743.4(IFNLR1):c.670+9C>A	IFNLR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2204772	NM_170743.4(IFNLR1):c.574G>A (p.Glu192Lys)	IFNLR1 (E192K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108318	NM_170743.4(IFNLR1):c.551T>A (p.Ile184Asn)	IFNLR1 (I184N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108317	NM_170743.4(IFNLR1):c.466C>A (p.Leu156Met)	IFNLR1 (L156M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054365	NM_170743.4(IFNLR1):c.449G>C (p.Cys150Ser)	IFNLR1 (C150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540970	NM_170743.4(IFNLR1):c.446C>T (p.Pro149Leu)	IFNLR1 (P149L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638494	NM_170743.4(IFNLR1):c.411G>A (p.Glu137=)	IFNLR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3052402	NM_170743.4(IFNLR1):c.333G>T (p.Trp111Cys)	IFNLR1 (W111C)	Single nucleotide variant (missense variant)	IFNLR1-related disorder	GUncertain significance
Select item 786720	NM_170743.4(IFNLR1):c.306G>T (p.Thr102=)	IFNLR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2607028	NM_170743.4(IFNLR1):c.305C>T (p.Thr102Met)	IFNLR1 (T102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316154	NM_170743.4(IFNLR1):c.302G>A (p.Arg101Gln)	IFNLR1 (R101Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2371389	NM_170743.4(IFNLR1):c.250A>G (p.Met84Val)	IFNLR1 (M84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352634	NM_170743.4(IFNLR1):c.225G>A (p.Ala75=)	IFNLR1	Single nucleotide variant (synonymous variant)	IFNLR1-related disorder	GLikely benign
Select item 3056574	NM_170743.4(IFNLR1):c.224C>T (p.Ala75Val)	IFNLR1 (A75V)	Single nucleotide variant (missense variant)	IFNLR1-related disorder	GBenign
Select item 3108316	NM_170743.4(IFNLR1):c.208G>A (p.Glu70Lys)	IFNLR1 (E70K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 784939	NM_170743.4(IFNLR1):c.207C>T (p.Arg69=)	IFNLR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3108315	NM_170743.4(IFNLR1):c.206G>A (p.Arg69His)	IFNLR1 (R69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336479	NM_170743.4(IFNLR1):c.200G>A (p.Arg67Gln)	IFNLR1 (R67Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403087	NM_170743.4(IFNLR1):c.194G>A (p.Arg65His)	IFNLR1 (R65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040145	NM_170743.4(IFNLR1):c.183-7C>T	IFNLR1	Single nucleotide variant (intron variant)	IFNLR1-related disorder	GLikely benign
Select item 3054649	NM_170743.4(IFNLR1):c.93G>A (p.Thr31=)	IFNLR1	Single nucleotide variant (synonymous variant)	IFNLR1-related disorder	GLikely benign
Select item 3047149	NM_170743.4(IFNLR1):c.-8G>A	IFNLR1, LOC129929698	Single nucleotide variant (5 prime UTR variant)	IFNLR1-related disorder	GLikely benign
Select item 3247719	NC_000001.10:g.(?_23395012)_(24673151_?)del	ASAP3, CNR2 +22 more	Deletion	Diamond-Blackfan anemia	GPathogenic
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1809506	GRCh37/hg19 1p36.11(chr1:24409165-24492808)x1	IFNLR1, IL22RA1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1809397	GRCh37/hg19 1p36.11(chr1:24111388-24686443)x3	CNR2, FUCA1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1809272	GRCh37/hg19 1p36.11(chr1:24111522-24614856)x3	CNR2, FUCA1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1808979	GRCh37/hg19 1p36.11(chr1:24363507-24875537)x3	GRHL3, IFNLR1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 929347	GRCh37/hg19 1p36.11(chr1:24394811-25148686)x3	CLIC4, GRHL3 +8 more	Copy number gain	See cases	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 65