LMNTD2-AS1
Basic information
Region (hg38): 11:557595-560114
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (15 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the LMNTD2-AS1 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) | 1 | |||||
splice region | 0 | |||||
non coding | 11 | 14 | ||||
Total | 0 | 0 | 11 | 4 | 0 |
Variants in LMNTD2-AS1
This is a list of pathogenic ClinVar variants found in the LMNTD2-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-557617-C-A | not specified | Uncertain significance (Aug 09, 2021) | ||
11-557633-G-A | not specified | Uncertain significance (Dec 21, 2021) | ||
11-557636-A-C | not specified | Uncertain significance (Apr 13, 2023) | ||
11-557894-C-T | not specified | Uncertain significance (Dec 19, 2022) | ||
11-557915-C-A | not specified | Uncertain significance (Apr 13, 2022) | ||
11-557916-G-A | not specified | Uncertain significance (Mar 14, 2023) | ||
11-557923-C-A | not specified | Uncertain significance (Nov 09, 2023) | ||
11-557934-G-A | not specified | Uncertain significance (Apr 06, 2023) | ||
11-557942-T-C | not specified | Uncertain significance (Dec 16, 2023) | ||
11-557985-T-C | not specified | Likely benign (Jun 21, 2023) | ||
11-558018-G-A | not specified | Uncertain significance (Apr 07, 2022) | ||
11-558171-C-T | not specified | Likely benign (Nov 17, 2023) | ||
11-558243-G-C | not specified | Uncertain significance (Nov 09, 2021) | ||
11-558663-C-T | not specified | Likely benign (May 08, 2023) | ||
11-558689-C-T | not specified | Uncertain significance (Jul 22, 2022) | ||
11-558713-C-G | not specified | Uncertain significance (Apr 09, 2022) | ||
11-558731-C-T | not specified | Uncertain significance (Oct 02, 2023) | ||
11-558747-C-T | not specified | Uncertain significance (Aug 20, 2023) | ||
11-558863-C-T | not specified | Likely benign (Mar 31, 2023) | ||
11-558888-G-T | not specified | Uncertain significance (Mar 20, 2024) | ||
11-558938-C-T | not specified | Likely benign (Jul 06, 2021) | ||
11-558965-T-G | not specified | Uncertain significance (Jan 08, 2024) |
GnomAD
Source:
dbNSFP
Source: