LINC00581
Basic information
Region (hg38): 6:21485618-21595593
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 LINC00581 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 LINC00581
This is a list of pathogenic ClinVar variants found in the LINC00581 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-21593970-C-A | Benign (May 16, 2021) | |||
6-21594549-C-G | Likely benign (Jul 01, 2022) | |||
6-21594561-G-C | Uncertain significance (Dec 09, 2023) | |||
6-21594562-A-G | Uncertain significance (Feb 10, 2023) | |||
6-21594566-C-T | Uncertain significance (Jan 03, 2023) | |||
6-21594586-G-T | Coffin-Siris syndrome 10 | Uncertain significance (Jun 06, 2024) | ||
6-21594590-G-C | Inborn genetic diseases | Uncertain significance (Aug 28, 2023) | ||
6-21594597-C-A | SOX4-related disorder | Likely benign (Apr 24, 2020) | ||
6-21594616-C-G | SOX4-related disorder | Benign (Apr 01, 2025) | ||
6-21594625-GC-AA | Coffin-Siris syndrome 10 | Uncertain significance (Jul 20, 2023) | ||
6-21594632-C-T | Uncertain significance (Jun 23, 2023) | |||
6-21594664-G-T | Neurodevelopmental disorder | Uncertain significance (May 10, 2021) | ||
6-21594664-GGCA-CGCT | Coffin-Siris syndrome 10 | Pathogenic (Feb 02, 2023) | ||
6-21594683-G-C | Coffin-Siris syndrome 10 | Uncertain significance (Jun 04, 2020) | ||
6-21594707-A-C | Coffin-Siris syndrome 10 | Uncertain significance (Mar 22, 2022) | ||
6-21594710-T-G | Coffin-Siris syndrome 10 • Intellectual disability;Developmental delay;Mild facial and digital morphological abnormalities | Pathogenic/Likely pathogenic (Apr 25, 2025) | ||
6-21594716-G-A | Conflicting classifications of pathogenicity (Feb 07, 2022) | |||
6-21594719-C-T | Coffin-Siris syndrome 10 | Likely pathogenic (Feb 14, 2025) | ||
6-21594721-A-G | not specified | Uncertain significance (Jul 05, 2024) | ||
6-21594727-G-A | Coffin-Siris syndrome 10 | Uncertain significance (Sep 23, 2020) | ||
6-21594732-C-A | Intellectual disability, mild • Coffin-Siris syndrome 10 • Developmental delay;Mild facial and digital morphological abnormalities;Intellectual disability | Likely pathogenic (Feb 20, 2019) | ||
6-21594734-T-C | Coffin-Siris syndrome 10 | Likely pathogenic (Sep 02, 2024) | ||
6-21594747-G-A | Likely benign (Apr 10, 2018) | |||
6-21594763-A-G | Uncertain significance (Sep 26, 2021) | |||
6-21594768-G-A | Uncertain significance (Aug 08, 2023) |
GnomAD
Source:
dbNSFP
Source: