IL20RB[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 523198	GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1	IL20RB, IL20RB-AS1 +26 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 2513526	NM_144717.4(IL20RB):c.176C>T (p.Ala59Val)	IL20RB, IL20RB-AS1 (A59V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109299	NM_144717.4(IL20RB):c.205G>A (p.Glu69Lys)	IL20RB, IL20RB-AS1 (E69K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595824	NM_144717.4(IL20RB):c.236C>T (p.Thr79Met)	IL20RB, IL20RB-AS1 (T79M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3109300	NM_144717.4(IL20RB):c.284C>T (p.Pro95Leu)	IL20RB (P95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109301	NM_144717.4(IL20RB):c.335G>A (p.Arg112His)	IL20RB (R112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339817	NM_144717.4(IL20RB):c.386A>G (p.His129Arg)	IL20RB (H129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285828	NM_144717.4(IL20RB):c.419G>A (p.Arg140Gln)	IL20RB (R140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314729	NM_144717.4(IL20RB):c.437C>T (p.Thr146Ile)	IL20RB (T146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774849	NM_144717.4(IL20RB):c.528C>G (p.Ala176=)	IL20RB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2485814	NM_144717.4(IL20RB):c.565C>A (p.Pro189Thr)	IL20RB (P189T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473685	NM_144717.4(IL20RB):c.583A>G (p.Met195Val)	IL20RB (M195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613819	NM_144717.4(IL20RB):c.728T>G (p.Phe243Cys)	IL20RB (F243C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400322	NM_144717.4(IL20RB):c.776G>A (p.Arg259Gln)	IL20RB (R259Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526185	NM_144717.4(IL20RB):c.802G>A (p.Val268Met)	IL20RB (V268M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284108	NM_144717.4(IL20RB):c.827A>T (p.Lys276Ile)	IL20RB (K276I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247797	NM_144717.4(IL20RB):c.866G>C (p.Arg289Thr)	IL20RB (R289T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109302	NM_144717.4(IL20RB):c.892G>T (p.Ala298Ser)	IL20RB (A298S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 686241	GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3	A4GNT, ARMC8 +31 more	Copy number gain	not provided	GUncertain significance
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 562817	GRCh37/hg19 3q22.3(chr3:135805001-137555312)x3	STAG1, NCK1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253333	GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3	ARMC8, ZBTB38 +36 more	Copy number gain	See cases	GLikely pathogenic

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Items: 36