TOMM20L-DT

TOMM20L divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 14:58339709-58395843

Links

ENSG00000258658 ∙ NCBI:105370522 ∙ ∙ HGNC:55443 ∙ ∙ ∙ 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 TOMM20L-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TOMM20L-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 TOMM20L-DT

This is a list of pathogenic ClinVar variants found in the TOMM20L-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
14-58346423-A-G		not specified	Uncertain significance (Oct 12, 2024)
14-58346450-A-T		not specified	Uncertain significance (Mar 03, 2025)
14-58346456-A-G		not specified	Uncertain significance (Jan 18, 2025)
14-58346465-A-G		not specified	Uncertain significance (Oct 26, 2022)
14-58347670-A-T		not specified	Uncertain significance (Oct 29, 2021)
14-58347684-A-C		not specified	Uncertain significance (Feb 15, 2023)
14-58347730-A-G		not specified	Uncertain significance (Apr 07, 2023)
14-58347756-A-G		not specified	Uncertain significance (Jan 04, 2022)
14-58347801-G-C		not specified	Uncertain significance (Oct 12, 2024)
14-58347826-T-A		not specified	Uncertain significance (Sep 07, 2022)
14-58351119-T-A		not specified	Uncertain significance (Feb 01, 2025)
14-58351121-G-A		not specified	Uncertain significance (Jul 26, 2022)
14-58351139-G-A		not specified	Uncertain significance (Oct 22, 2021)
14-58353680-G-A		not specified	Uncertain significance (Jul 27, 2024)
14-58353796-C-G		not specified	Uncertain significance (Jan 19, 2022)
14-58353812-G-A		not specified	Uncertain significance (Jun 07, 2024)
14-58359132-G-T		not specified	Uncertain significance (May 04, 2022)
14-58361001-C-T		not specified	Uncertain significance (Jan 26, 2025)
14-58361004-A-G		not specified	Uncertain significance (Jul 11, 2022)
14-58364171-C-G		not specified	Uncertain significance (Dec 09, 2023)
14-58364232-C-G		not specified	Uncertain significance (Mar 05, 2025)
14-58364295-A-C		not specified	Uncertain significance (Mar 10, 2025)
14-58364370-G-C		not specified	Uncertain significance (Nov 08, 2022)
14-58364405-T-G		not specified	Uncertain significance (Dec 23, 2024)
14-58364431-A-T		not specified	Uncertain significance (Dec 15, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP