MTCL3

Basic information

Region (hg38): 6:127472806-127519335

Links

ENSG00000214338 ∙ ∙ ∙ HGNC:21494 ∙ ∙ ∙ 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 MTCL3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTCL3 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 MTCL3

This is a list of pathogenic ClinVar variants found in the MTCL3 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-127473376-T-C		not specified	Uncertain significance (Mar 07, 2024)
6-127475310-G-A		not specified	Uncertain significance (Jul 14, 2021)
6-127475322-C-T		not specified	Uncertain significance (May 13, 2024)
6-127475340-T-C		not specified	Uncertain significance (May 31, 2023)
6-127475349-C-G		not specified	Uncertain significance (Dec 02, 2022)
6-127475354-C-T		not specified	Uncertain significance (Mar 25, 2024)
6-127475361-T-C		not specified	Uncertain significance (Nov 10, 2022)
6-127475402-T-C		not specified	Uncertain significance (Oct 03, 2022)
6-127475659-G-C		not specified	Uncertain significance (Dec 11, 2023)
6-127475694-C-G		7 conditions	Uncertain significance (Jan 28, 2022)
6-127475737-G-C		not specified	Uncertain significance (Dec 07, 2023)
6-127475803-G-T		not specified	Uncertain significance (Apr 17, 2024)
6-127475931-C-G		not specified	Uncertain significance (Nov 03, 2022)
6-127475973-C-A		not specified	Uncertain significance (Dec 20, 2023)
6-127476034-G-A			Benign (Dec 23, 2021)
6-127476128-G-A		not specified	Uncertain significance (Nov 08, 2022)
6-127476312-G-C		not specified	Uncertain significance (Dec 21, 2022)
6-127476362-T-C		not specified	Uncertain significance (May 03, 2023)
6-127514955-C-G		not specified	Uncertain significance (May 09, 2022)
6-127515035-C-T		not specified	Uncertain significance (Feb 28, 2023)
6-127515522-T-A		not specified	Uncertain significance (May 23, 2023)
6-127515582-G-C		not specified	Uncertain significance (Nov 14, 2023)
6-127515591-G-C		not specified	Uncertain significance (Jun 26, 2023)
6-127515608-G-T		not specified	Uncertain significance (Dec 19, 2022)
6-127515615-C-T		not specified	Uncertain significance (Jan 31, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP