TOP6BL

Basic information

Region (hg38): 11:66744451-66843516

Links

ENSG00000173715 ∙ ∙ ∙ HGNC:26197 ∙ ∙ ∙ 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 TOP6BL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TOP6BL 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 TOP6BL

This is a list of pathogenic ClinVar variants found in the TOP6BL region.

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

Position	Type	Phenotype	Significance	ClinVar
11-66744819-GGGCGGCGGCGGC-G		TOP6BL-related disorder	Likely benign (Mar 23, 2020)
11-66744819-G-GGGC		TOP6BL-related disorder	Benign (Nov 01, 2019)
11-66744908-G-C			Uncertain significance (-)
11-66744924-T-C		TOP6BL-related disorder	Likely benign (Feb 20, 2019)
11-66748432-A-G		TOP6BL-related disorder	Likely benign (Mar 19, 2019)
11-66748457-A-G		not specified	Uncertain significance (Oct 05, 2021)
11-66756337-CT-C		TOP6BL-related disorder	Likely benign (Feb 22, 2019)
11-66756337-C-CTT		TOP6BL-related disorder	Likely benign (Sep 20, 2019)
11-66788262-T-C		TOP6BL-related disorder	Benign (Apr 18, 2019)
11-66796355-G-A		TOP6BL-related disorder	Likely benign (Jun 27, 2019)
11-66801039-A-AT		Hydatidiform mole, recurrent, 4	Pathogenic (May 15, 2019)
11-66804038-C-A		not specified	Uncertain significance (Aug 12, 2021)
11-66813920-C-T		not specified	Uncertain significance (Dec 17, 2023)
11-66822587-A-G			Likely benign (Jan 01, 2023)
11-66822606-T-C		Hydatidiform mole, recurrent, 4	Uncertain significance (Sep 30, 2019)
11-66822655-T-G		not specified	Uncertain significance (Aug 23, 2021)
11-66822671-T-A		TOP6BL-related disorder	Likely benign (Aug 01, 2019)
11-66828311-C-T		not specified	Uncertain significance (Aug 09, 2021)
11-66838412-G-A		not specified	Uncertain significance (Jul 14, 2021)
11-66838438-C-T		TOP6BL-related disorder	Benign (Apr 18, 2019)
11-66842871-CAA-C		Hydatidiform mole, recurrent, 4	Likely pathogenic (-)
11-66842947-G-A		TOP6BL-related disorder	Benign (Dec 28, 2018)
11-66843021-C-T		TOP6BL-related disorder	Likely benign (Mar 19, 2019)
11-66843174-G-C		TOP6BL-related disorder	Benign (Oct 21, 2019)
11-66843465-C-G		not specified	Uncertain significance (Apr 22, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP