KBTBD6-DT

Basic information

Region (hg38): 13:41132894-41261348

Links

ENSG00000278390 ∙ ∙ ∙ HGNC:56824 ∙ ∙ ∙ 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 KBTBD6-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KBTBD6-DT 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 KBTBD6-DT

This is a list of pathogenic ClinVar variants found in the KBTBD6-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
13-41192211-A-T		not specified	Uncertain significance (Jan 23, 2025)
13-41192223-C-A		not specified	Uncertain significance (Nov 29, 2024)
13-41192234-C-T		not specified	Uncertain significance (Jul 21, 2021)
13-41192252-A-T		not specified	Uncertain significance (Feb 02, 2024)
13-41192455-C-T		not specified	Uncertain significance (Jun 05, 2023)
13-41192472-T-G		not specified	Uncertain significance (Feb 28, 2024)
13-41192513-C-T		not specified	Uncertain significance (Oct 26, 2021)
13-41192583-A-G		not specified	Uncertain significance (Aug 28, 2024)
13-41192634-C-G		not specified	Uncertain significance (Jul 19, 2023)
13-41192661-C-A		not specified	Uncertain significance (May 21, 2024)
13-41192690-T-C		not specified	Uncertain significance (Jan 06, 2023)
13-41192762-G-C		Oromandibular-limb hypogenesis spectrum	Likely benign (Aug 12, 2016)
13-41192789-T-C		not specified	Uncertain significance (Dec 21, 2024)
13-41192885-C-G		not specified	Uncertain significance (Jun 28, 2022)
13-41192913-C-T		not specified	Uncertain significance (Dec 16, 2023)
13-41192997-G-A		not specified	Uncertain significance (Dec 06, 2022)
13-41192999-T-C		not specified	Uncertain significance (Aug 12, 2021)
13-41193039-C-T		not specified	Uncertain significance (Dec 28, 2023)
13-41193050-T-G		Oromandibular-limb hypogenesis spectrum	Likely benign (Aug 12, 2016)
13-41193153-T-C		not specified	Uncertain significance (Aug 20, 2024)
13-41193170-G-A		not specified	Uncertain significance (Jul 09, 2021)
13-41193185-C-T		not specified	Uncertain significance (Aug 20, 2024)
13-41193231-T-G		not specified	Uncertain significance (Feb 13, 2024)
13-41193297-T-C		not specified	Uncertain significance (Mar 14, 2023)
13-41193350-T-C		not specified	Uncertain significance (Jul 27, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP