LIPT2-AS1
Basic information
Region (hg38): 11:74493366-74498533
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 LIPT2-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) | 0 | |||||
splice region | 0 | |||||
non coding | 45 | 17 | 68 | |||
Total | 0 | 3 | 45 | 17 | 3 |
Variants in LIPT2-AS1
This is a list of pathogenic ClinVar variants found in the LIPT2-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 |
---|---|---|---|---|
11-74493373-G-A | Uncertain significance (Mar 27, 2022) | |||
11-74493376-G-A | Likely benign (Feb 24, 2024) | |||
11-74493378-C-G | not specified | Conflicting classifications of pathogenicity (Oct 20, 2024) | ||
11-74493378-C-T | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities • Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | Uncertain significance (Mar 27, 2022) | ||
11-74493383-A-C | Likely benign (Dec 04, 2024) | |||
11-74493390-A-C | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | Pathogenic/Likely pathogenic (Oct 23, 2020) | ||
11-74493391-G-C | Uncertain significance (Nov 29, 2022) | |||
11-74493394-C-G | not specified | Uncertain significance (May 08, 2023) | ||
11-74493396-A-C | not specified | Uncertain significance (Jan 04, 2024) | ||
11-74493402-G-A | not specified | Uncertain significance (Jun 29, 2023) | ||
11-74493403-G-A | not specified | Uncertain significance (Sep 28, 2022) | ||
11-74493416-C-G | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | Uncertain significance (Oct 13, 2021) | ||
11-74493420-C-T | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | Uncertain significance (Sep 22, 2024) | ||
11-74493422-C-G | Likely benign (Jan 10, 2024) | |||
11-74493424-G-A | Uncertain significance (Oct 22, 2024) | |||
11-74493427-C-T | not specified | Uncertain significance (Jul 09, 2021) | ||
11-74493431-G-A | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | Benign/Likely benign (Jan 06, 2025) | ||
11-74493434-G-T | LIPT2-related disorder | Benign (Jan 23, 2025) | ||
11-74493441-A-C | Uncertain significance (Oct 24, 2022) | |||
11-74493441-AGGCCACCGC-A | Uncertain significance (Jun 17, 2024) | |||
11-74493451-G-A | Uncertain significance (Oct 28, 2024) | |||
11-74493453-C-G | Uncertain significance (Dec 25, 2022) | |||
11-74493463-G-A | not specified | Uncertain significance (Jan 11, 2023) | ||
11-74493481-C-T | Uncertain significance (Nov 02, 2022) | |||
11-74493491-C-T | Likely benign (Jul 06, 2022) |
GnomAD
Source:
dbNSFP
Source: