CYLD-AS2

Basic information

Region (hg38): 16:50783859-50803345

Links

ENSG00000260616HGNC:56848GenCCjaxSfariGnomADPubmedClinVar

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)1260855
16-50784326-C-A Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 Uncertain significance (Oct 30, 2023)2681039
16-50784339-TTTAG-T Pathogenic (May 10, 2024)3652898
16-50784355-A-T Uncertain significance (Nov 17, 2019)1315913
16-50784384-A-G Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 Uncertain significance (Mar 18, 2024)3241231
16-50784421-T-C Uncertain significance (Nov 28, 2024)3702807
16-50784422-G-A Likely benign (Aug 15, 2018)733826
16-50784429-GA-G Pathogenic (Sep 03, 2024)3664310
16-50784435-G-A not specified • Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 Uncertain significance (Mar 28, 2024)133955
16-50784451-T-A Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 Uncertain significance (Dec 19, 2023)3241253
16-50784456-G-A Uncertain significance (Dec 21, 2023)3370156
16-50786761-C-CA Benign (Jan 06, 2020)1225930
16-50786848-AACTT-A Familial multiple trichoepitheliomata Uncertain significance (Sep 23, 2016)267242
16-50786851-TTAGA-T Familial cylindromatosis Pathogenic (Nov 01, 2009)5262
16-50786851-TTAGATA-T Familial cylindromatosis Pathogenic (Sep 23, 2016)267243
16-50786853-A-T Likely pathogenic (Dec 28, 2024)3722187
16-50786870-T-C Likely benign (Mar 29, 2018)731414
16-50786890-T-C CYLD-related disorder Uncertain significance (Nov 06, 2023)3032767
16-50786940-G-GA Multiple myeloma Likely pathogenic (Aug 31, 2019)800350
16-50786944-A-G Familial cylindromatosis Pathogenic (Oct 03, 2024)3068572
16-50786946-G-C Familial cylindromatosis Uncertain significance (Sep 23, 2016)267244
16-50786996-C-A not specified not provided (Sep 19, 2013)135510
16-50787056-G-A Benign (Jun 23, 2018)1275227
16-50787736-G-A Likely benign (Jun 23, 2018)1189168
16-50787762-TTTGA-T Likely benign (Oct 15, 2024)3622259

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP