IFNAR2-IL10RB

Basic information

Region (hg38): 21:33229892-33297160

Links

ENSG00000249624 ∙ ∙ ∙ ∙ ∙ ∙ ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IFNAR2-IL10RB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IFNAR2-IL10RB gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in IFNAR2-IL10RB

This is a list of pathogenic ClinVar variants found in the IFNAR2-IL10RB region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
21-33237200-G-A		Mortality risk in patients with severe coronavirus disease (COVID-19) • Associated with severe COVID-19 disease	Uncertain significance; association (Jul 01, 2023)
21-33241936-A-G			Uncertain significance (Jul 26, 2022)
21-33241945-T-C		Hepatitis B virus, susceptibility to • Immunodeficiency 45 • Mortality risk in patients with severe coronavirus disease (COVID-19) • not specified	Benign (Feb 01, 2024)
21-33241949-C-G		not specified	Uncertain significance (Jul 12, 2023)
21-33241950-T-A		Associated with severe COVID-19 disease	Uncertain significance (Jul 01, 2023)
21-33241950-T-G		Mortality risk in patients with severe coronavirus disease (COVID-19) • Immunodeficiency 45 • not specified	Benign (Feb 01, 2024)
21-33241954-G-C		not specified	Uncertain significance (Apr 17, 2024)
21-33241955-A-T			Uncertain significance (Aug 19, 2022)
21-33241958-A-G			Likely benign (Jul 19, 2022)
21-33241958-A-T			Likely benign (Sep 27, 2023)
21-33241961-T-G			Likely benign (Nov 21, 2023)
21-33241966-T-G			Uncertain significance (Feb 17, 2022)
21-33241975-T-C			Uncertain significance (Jul 04, 2022)
21-33241987-G-A			Likely benign (Dec 27, 2023)
21-33241987-G-C			Likely benign (Jan 19, 2024)
21-33241988-C-T			Likely benign (Nov 18, 2023)
21-33241994-A-G			Likely benign (Sep 21, 2021)
21-33241994-A-T			Likely benign (Mar 06, 2022)
21-33241995-T-C			Likely benign (Jun 06, 2023)
21-33241996-C-T			Likely benign (Nov 19, 2022)
21-33243657-G-A			Likely benign (Feb 09, 2022)
21-33243676-A-G			Uncertain significance (Oct 03, 2023)
21-33243682-G-T		not specified	Uncertain significance (Sep 09, 2022)
21-33243683-C-T			Likely benign (Dec 24, 2020)
21-33243686-C-T			Likely benign (Sep 30, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP