MTCL2
Basic information
Region (hg38): 20:36777447-36863538
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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) | ||
| 20-36786496-G-T | not specified | Uncertain significance (Oct 08, 2024) | ||
| 20-36786499-G-T | not specified | Uncertain significance (Dec 02, 2024) | ||
| 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) | ||
| 20-36786588-C-T | not specified | Uncertain significance (Nov 24, 2024) | ||
| 20-36786592-C-T | not specified | Uncertain significance (Dec 09, 2024) | ||
| 20-36786603-G-T | not specified | Uncertain significance (Jun 05, 2023) | ||
| 20-36793253-T-C | not specified | Likely benign (Feb 17, 2023) | ||
| 20-36793257-G-T | not specified | Uncertain significance (Sep 10, 2024) | ||
| 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) | ||
| 20-36793799-G-A | not specified | Uncertain significance (Dec 05, 2024) | ||
| 20-36793810-G-C | not specified | Uncertain significance (Jun 07, 2024) | ||
| 20-36793883-T-C | not specified | Uncertain significance (Jul 27, 2024) | ||
| 20-36793898-G-T | not specified | Uncertain significance (Jan 23, 2023) | ||
| 20-36793905-C-T | not specified | Uncertain significance (Jan 26, 2022) | ||
| 20-36793928-G-A | not specified | Uncertain significance (Dec 09, 2024) |
GnomAD
Source:
dbNSFP
Source: