CYLD-AS2

Basic information

Region (hg38): 16:50783859-50803345

Links

ENSG00000260616 ∙ ∙ ∙ HGNC:56848 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CYLD-AS2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYLD-AS2 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 CYLD-AS2

This is a list of pathogenic ClinVar variants found in the CYLD-AS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-50784021-A-G			Benign (Jan 10, 2019)
16-50784326-C-A		Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Uncertain significance (Oct 30, 2023)
16-50784339-TTTAG-T			Pathogenic (May 10, 2024)
16-50784355-A-T			Uncertain significance (Nov 17, 2019)
16-50784384-A-G		Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Uncertain significance (Mar 18, 2024)
16-50784421-T-C			Uncertain significance (Nov 28, 2024)
16-50784422-G-A			Likely benign (Aug 15, 2018)
16-50784429-GA-G			Pathogenic (Sep 03, 2024)
16-50784435-G-A		not specified • Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Uncertain significance (Mar 28, 2024)
16-50784451-T-A		Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Uncertain significance (Dec 19, 2023)
16-50784456-G-A			Uncertain significance (Dec 21, 2023)
16-50786761-C-CA			Benign (Jan 06, 2020)
16-50786848-AACTT-A		Familial multiple trichoepitheliomata	Uncertain significance (Sep 23, 2016)
16-50786851-TTAGA-T		Familial cylindromatosis	Pathogenic (Nov 01, 2009)
16-50786851-TTAGATA-T		Familial cylindromatosis	Pathogenic (Sep 23, 2016)
16-50786853-A-T			Likely pathogenic (Dec 28, 2024)
16-50786870-T-C			Likely benign (Mar 29, 2018)
16-50786890-T-C		CYLD-related disorder	Uncertain significance (Nov 06, 2023)
16-50786940-G-GA		Multiple myeloma	Likely pathogenic (Aug 31, 2019)
16-50786944-A-G		Familial cylindromatosis	Pathogenic (Oct 03, 2024)
16-50786946-G-C		Familial cylindromatosis	Uncertain significance (Sep 23, 2016)
16-50786996-C-A		not specified	not provided (Sep 19, 2013)
16-50787056-G-A			Benign (Jun 23, 2018)
16-50787736-G-A			Likely benign (Jun 23, 2018)
16-50787762-TTTGA-T			Likely benign (Oct 15, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP