ZNF286A-TBC1D26

ZNF286A-TBC1D26 readthrough (NMD candidate)

Basic information

Region (hg38): 17:15699552-15745940

Links

ENSG00000255104 ∙ NCBI:119086082 ∙ ∙ HGNC:55384 ∙ ∙ ∙ 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 ZNF286A-TBC1D26 gene.

• Inborn genetic diseases (35 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF286A-TBC1D26 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)			1			1
splice region						0
non coding			31	5		36
Total	0	0	32	5	0

Variants in ZNF286A-TBC1D26

This is a list of pathogenic ClinVar variants found in the ZNF286A-TBC1D26 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-15701152-C-A		not specified	Uncertain significance (Sep 15, 2021)
17-15701208-G-A		not specified	Uncertain significance (Nov 07, 2023)
17-15701220-C-T		not specified	Uncertain significance (Mar 29, 2022)
17-15706488-C-A		not specified	Uncertain significance (Jan 09, 2024)
17-15708206-C-T		not specified	Uncertain significance (Aug 02, 2021)
17-15716062-T-C		not specified	Uncertain significance (Nov 30, 2022)
17-15716079-A-T		not specified	Uncertain significance (Aug 30, 2021)
17-15716134-C-T		not specified	Uncertain significance (Jan 23, 2023)
17-15716143-A-G		not specified	Uncertain significance (Apr 03, 2023)
17-15716154-C-T		not specified	Uncertain significance (Dec 28, 2022)
17-15716167-A-G		not specified	Uncertain significance (Sep 13, 2023)
17-15716219-G-C		not specified	Uncertain significance (Jun 18, 2021)
17-15716233-A-G		not specified	Uncertain significance (Dec 16, 2022)
17-15716274-T-C		not specified	Likely benign (Jun 13, 2023)
17-15716304-T-C		not specified	Uncertain significance (Jul 12, 2022)
17-15716350-G-T		not specified	Uncertain significance (Dec 03, 2021)
17-15716392-G-A		not specified	Uncertain significance (Sep 16, 2021)
17-15716425-A-G		not specified	Uncertain significance (Aug 22, 2023)
17-15716448-C-T		not specified	Uncertain significance (May 22, 2023)
17-15716503-G-A		not specified	Uncertain significance (Mar 25, 2022)
17-15716549-A-T		not specified	Uncertain significance (Apr 24, 2024)
17-15716731-A-T		not specified	Uncertain significance (Jun 30, 2023)
17-15716734-G-A		not specified	Uncertain significance (Oct 14, 2023)
17-15716740-C-T		not specified	Uncertain significance (Mar 29, 2024)
17-15716901-C-T		not specified	Uncertain significance (Oct 27, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP