IL20RA[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	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 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 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 2405063	NM_014432.4(IL20RA):c.1637G>C (p.Gly546Ala)	IL20RA (G413A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109293	NM_014432.4(IL20RA):c.1628A>G (p.Glu543Gly)	IL20RA (E432G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109292	NM_014432.4(IL20RA):c.1558A>G (p.Arg520Gly)	IL20RA (R387G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344792	NM_014432.4(IL20RA):c.1537G>A (p.Gly513Arg)	IL20RA (G402R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468470	NM_014432.4(IL20RA):c.1498G>A (p.Asp500Asn)	IL20RA (D451N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509160	NM_014432.4(IL20RA):c.1355C>G (p.Pro452Arg)	IL20RA (P341R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109289	NM_014432.4(IL20RA):c.1340A>G (p.Gln447Arg)	IL20RA (Q314R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464035	NM_014432.4(IL20RA):c.1289C>T (p.Thr430Ile)	IL20RA (T297I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457841	NM_014432.4(IL20RA):c.1286G>A (p.Gly429Glu)	IL20RA (G429E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330666	NM_014432.4(IL20RA):c.1222A>T (p.Thr408Ser)	IL20RA (T408S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390798	NM_014432.4(IL20RA):c.1181C>T (p.Pro394Leu)	IL20RA (P261L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593698	NM_014432.4(IL20RA):c.1120G>A (p.Glu374Lys)	IL20RA (E241K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539262	NM_014432.4(IL20RA):c.1106T>G (p.Ile369Ser)	IL20RA (I258S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333573	NM_014432.4(IL20RA):c.962A>G (p.Lys321Arg)	IL20RA (K321R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109297	NM_014432.4(IL20RA):c.836T>C (p.Val279Ala)	IL20RA (V168A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402974	NM_014432.4(IL20RA):c.725-5del	IL20RA	Deletion (intron variant)	not specified	GBenign
Select item 402973	NM_014432.4(IL20RA):c.725-6_725-5del	IL20RA	Deletion (intron variant)	not specified	GBenign
Select item 2243559	NM_014432.4(IL20RA):c.705G>T (p.Gln235His)	IL20RA (Q102H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512856	NM_014432.4(IL20RA):c.679C>T (p.Arg227Cys)	IL20RA (R116C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224641	NM_014432.4(IL20RA):c.664G>A (p.Val222Ile)	IL20RA (V111I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109296	NM_014432.4(IL20RA):c.632A>G (p.Asn211Ser)	IL20RA (N100S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109295	NM_014432.4(IL20RA):c.343A>G (p.Ile115Val)	IL20RA (I115V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310027	NM_014432.4(IL20RA):c.278C>G (p.Thr93Ser)	IL20RA (T44S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558840	NM_014432.4(IL20RA):c.277A>G (p.Thr93Ala)	IL20RA (T44A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109294	NM_014432.4(IL20RA):c.268A>G (p.Ile90Val)	IL20RA (I90V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308833	NM_014432.4(IL20RA):c.206A>T (p.Tyr69Phe)	IL20RA, LOC132089353 (Y69F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569128	NM_014432.4(IL20RA):c.170C>T (p.Thr57Ile)	IL20RA, LOC132089353 (T57I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285827	NM_014432.4(IL20RA):c.131C>T (p.Thr44Ile)	IL20RA, LOC132089353 (T44I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2521572	NM_014432.4(IL20RA):c.55C>A (p.Leu19Met)	IL20RA, LOC129997246 (L19M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2618391	NM_014432.4(IL20RA):c.47C>T (p.Pro16Leu)	IL20RA, LOC129997246 (P16L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2213745	NM_014432.4(IL20RA):c.44C>A (p.Pro15Gln)	IL20RA, LOC129997246 (P15Q)	Single nucleotide variant (5 prime UTR 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 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 1450358	NC_000006.11:g.(?_137143759)_(138202456_?)del	IL20RA, IFNGR1 +6 more	Deletion	Disseminated atypical mycobacterial infection	GPathogenic
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

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Items: 51