MTCL2

Basic information

Region (hg38): 20:36777447-36863538

Links

ENSG00000149639 ∙ ∙ ∙ HGNC:16111 ∙ ∙ ∙ 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 MTCL2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTCL2 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 MTCL2

This is a list of pathogenic ClinVar variants found in the MTCL2 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-36786495-G-T		not specified	Uncertain significance (Jun 22, 2021)
20-36786541-G-A		not specified	Uncertain significance (Sep 28, 2021)
20-36786567-C-T		not specified	Uncertain significance (Nov 02, 2021)
20-36786580-G-A		not specified	Uncertain significance (May 08, 2023)
20-36786592-C-T		not specified	Uncertain significance (Jan 04, 2022)
20-36786603-G-T		not specified	Uncertain significance (Jun 05, 2023)
20-36793253-T-C		not specified	Likely benign (Feb 17, 2023)
20-36793283-C-T		not specified	Uncertain significance (Nov 10, 2022)
20-36793305-C-T		not specified	Uncertain significance (Apr 13, 2022)
20-36793397-T-C		not specified	Uncertain significance (Nov 10, 2022)
20-36793416-G-C		not specified	Uncertain significance (Aug 02, 2021)
20-36793473-C-G		not specified	Uncertain significance (Dec 01, 2022)
20-36793674-C-T		not specified	Uncertain significance (Aug 17, 2022)
20-36793742-C-T		not specified	Uncertain significance (Jul 12, 2022)
20-36793788-G-C		not specified	Uncertain significance (Mar 04, 2024)
20-36793810-G-C		not specified	Uncertain significance (Jun 07, 2024)
20-36793898-G-T		not specified	Uncertain significance (Jan 23, 2023)
20-36793905-C-T		not specified	Uncertain significance (Jan 26, 2022)
20-36793931-C-T		not specified	Uncertain significance (Dec 09, 2023)
20-36793996-C-G		not specified	Uncertain significance (Aug 16, 2021)
20-36794109-C-T		not specified	Uncertain significance (Nov 03, 2022)
20-36794114-G-A		not specified	Uncertain significance (Jan 03, 2024)
20-36794208-C-T		not specified	Uncertain significance (Nov 30, 2021)
20-36794213-G-A		not specified	Uncertain significance (Aug 10, 2021)
20-36794262-T-C		not specified	Uncertain significance (May 17, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP