IL20[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 2460291	NM_018724.4(IL20):c.86A>G (p.Asn29Ser)	IL20 (N29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109285	NM_018724.4(IL20):c.106G>A (p.Ala36Thr)	IL20 (A36T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2465137	NM_018724.4(IL20):c.195A>C (p.Leu65Phe)	IL20 (L65F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350216	NM_018724.4(IL20):c.251G>A (p.Arg84His)	IL20 (R84H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570535	NM_018724.4(IL20):c.287A>T (p.Lys96Ile)	IL20 (K96I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109286	NM_018724.4(IL20):c.301C>A (p.Pro101Thr)	IL20 (P101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381964	NM_018724.4(IL20):c.439A>C (p.Ser147Arg)	IL20 (S147R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109287	NM_018724.4(IL20):c.490G>C (p.Glu164Gln)	IL20 (E139Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678066	NM_018724.4(IL20):c.490G>A (p.Glu164Lys)	IL20 (E139K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1409891	NC_000001.10:g.(?_206941981)_(208391267_?)dup	C1orf116, C4BPA +19 more	Duplication	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 443302	GRCh37/hg19 1q32.1-32.2(chr1:206961307-207252090)x1	C1orf116, FCAMR +7 more	Copy number loss	See cases	GLikely benign
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 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 28