ClinVar for Gene (Select 53833) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3109302	NM_144717.4(IL20RB):c.892G>T (p.Ala298Ser)	IL20RB (A298S)	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 3109300	NM_144717.4(IL20RB):c.284C>T (p.Pro95Leu)	IL20RB (P95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2613819	NM_144717.4(IL20RB):c.728T>G (p.Phe243Cys)	IL20RB (F243C)	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 2526185	NM_144717.4(IL20RB):c.802G>A (p.Val268Met)	IL20RB (V268M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2400322	NM_144717.4(IL20RB):c.776G>A (p.Arg259Gln)	IL20RB (R259Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2314729	NM_144717.4(IL20RB):c.437C>T (p.Thr146Ile)	IL20RB (T146I)	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 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 774849	NM_144717.4(IL20RB):c.528C>G (p.Ala176=)	IL20RB	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 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 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 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 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 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 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 36