ClinVar for Gene (Select 116379) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285843	NM_052962.3(IL22RA2):c.389C>T (p.Pro130Leu)	IL22RA2 (P130L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285842	NM_052962.3(IL22RA2):c.729A>G (p.Ile243Met)	IL22RA2 (I211M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246197	NC_000006.11:g.(?_137143759)_(138202456_?)dup	IFNGR1, IL20RA +6 more	Duplication	not provided	GUncertain significance
Select item 3246073	NC_000006.11:g.(?_135606783)_(138202456_?)del	AHI1, BCLAF1 +12 more	Deletion	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 3109331	NM_052962.3(IL22RA2):c.775T>C (p.Cys259Arg)	IL22RA2 (C259R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109330	NM_052962.3(IL22RA2):c.734A>G (p.Gln245Arg)	IL22RA2 (Q213R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109329	NM_052962.3(IL22RA2):c.683T>C (p.Ile228Thr)	IL22RA2 (I228T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109328	NM_052962.3(IL22RA2):c.397G>A (p.Gly133Arg)	IL22RA2 (G101R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109327	NM_052962.3(IL22RA2):c.158T>A (p.Leu53His)	IL22RA2 (L53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2620092	NM_052962.3(IL22RA2):c.676G>T (p.Val226Phe)	IL22RA2 (V226F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558368	NM_052962.3(IL22RA2):c.697C>T (p.Pro233Ser)	IL22RA2 (P201S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544877	NM_052962.3(IL22RA2):c.674C>T (p.Ala225Val)	IL22RA2 (A225V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2543406	NM_052962.3(IL22RA2):c.737C>T (p.Pro246Leu)	IL22RA2 (P214L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477867	NM_052962.3(IL22RA2):c.470A>C (p.Glu157Ala)	IL22RA2 (E125A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402289	NM_052962.3(IL22RA2):c.449C>T (p.Pro150Leu)	IL22RA2 (P150L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381885	NM_052962.3(IL22RA2):c.452G>A (p.Arg151Gln)	IL22RA2 (R119Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357330	NM_052962.3(IL22RA2):c.116G>A (p.Arg39Gln)	IL22RA2 (R39Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336343	NM_052962.3(IL22RA2):c.77A>G (p.His26Arg)	IL22RA2 (H26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316998	NM_052962.3(IL22RA2):c.410C>T (p.Ala137Val)	IL22RA2 (A105V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236620	NM_052962.3(IL22RA2):c.107T>A (p.Phe36Tyr)	IL22RA2 (F36Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 1450358	NC_000006.11:g.(?_137143759)_(138202456_?)del	IL20RA, IFNGR1 +6 more	Deletion	Disseminated atypical mycobacterial infection	GPathogenic
Select item 1321338	NM_052962.3(IL22RA2):c.115C>T (p.Arg39Ter)	IL22RA2 (R39*)	Single nucleotide variant (nonsense)	Multisystem inflammatory syndrome in children	Grisk factor
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	MYB, NHSL1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1062411	NC_000006.11:g.(?_137143759)_(137540520_?)dup	SLC35D3, IFNGR1 +3 more	Duplication	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 972948	GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1	ABRACL, ARFGEF3 +23 more	Copy number loss	not provided	Gnot provided
Select item 830657	NC_000006.11:g.(?_136482728)_(137540520_?)del	BCLAF1, IFNGR1 +8 more	Deletion	Immunodeficiency 27A	GPathogenic
Select item 814871	GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1	SLC35D3, IFNGR1 +32 more	Copy number loss	not provided	GPathogenic
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 149759	GRCh38/hg38 6q23.3(chr6:136630655-137791240)x4	IFNGR1, IL20RA +72 more	Copy number gain	See cases	GLikely benign
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 39