LINC01018
Basic information
Region (hg38): 5:6582135-6613722
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Intellectual disability, autosomal recessive 5 (36 variants)
- not provided (35 variants)
- Inborn genetic diseases (26 variants)
- not specified (12 variants)
- Intellectual disability (1 variants)
- Intellectual Disability, Recessive (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the LINC01018 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 | 39 | 28 | 73 | |||
Total | 0 | 1 | 39 | 28 | 5 |
Variants in LINC01018
This is a list of pathogenic ClinVar variants found in the LINC01018 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
5-6599304-A-T | Intellectual disability, autosomal recessive 5 | Uncertain significance (Jan 13, 2018) | ||
5-6599307-C-T | Intellectual disability, autosomal recessive 5 | Uncertain significance (Jan 13, 2018) | ||
5-6599345-A-G | Intellectual disability, autosomal recessive 5 | Benign (Jan 12, 2018) | ||
5-6599363-G-A | Intellectual disability, autosomal recessive 5 | Benign (Jan 12, 2018) | ||
5-6599379-TG-T | Intellectual Disability, Recessive | Likely benign (Jun 14, 2016) | ||
5-6599394-T-C | Intellectual disability, autosomal recessive 5 | Uncertain significance (Feb 16, 2018) | ||
5-6599537-T-C | Intellectual disability, autosomal recessive 5 | Uncertain significance (Jan 13, 2018) | ||
5-6599632-G-C | Intellectual disability, autosomal recessive 5 | Uncertain significance (Jan 13, 2018) | ||
5-6599724-G-A | Intellectual disability, autosomal recessive 5 | Uncertain significance (Jan 12, 2018) | ||
5-6599786-A-G | Intellectual disability, autosomal recessive 5 | Uncertain significance (Jan 13, 2018) | ||
5-6599827-C-T | Intellectual disability, autosomal recessive 5 | Benign (Sep 11, 2018) | ||
5-6599829-G-T | Intellectual disability, autosomal recessive 5 | Uncertain significance (Jan 13, 2018) | ||
5-6599841-C-T | Intellectual disability, autosomal recessive 5 | Uncertain significance (Jan 13, 2018) | ||
5-6599876-A-C | Intellectual disability, autosomal recessive 5 | Benign/Likely benign (Nov 02, 2018) | ||
5-6599878-G-A | Intellectual disability, autosomal recessive 5 | Uncertain significance (Jan 13, 2018) | ||
5-6599904-GCCCCCGCTGCCTTGGGCCTGCTCACCGGGGTGGATGGA-G | Uncertain significance (Jul 12, 2018) | |||
5-6599909-C-T | Intellectual disability, autosomal recessive 5 | Likely benign (Jan 13, 2018) | ||
5-6599910-G-A | Intellectual disability, autosomal recessive 5 | Uncertain significance (Jan 13, 2018) | ||
5-6599930-C-T | not specified • Intellectual disability, autosomal recessive 5 • Inborn genetic diseases • NSUN2-related disorder | Conflicting classifications of pathogenicity (Jul 01, 2024) | ||
5-6599940-G-T | Uncertain significance (Apr 23, 2023) | |||
5-6599947-C-T | Intellectual disability, autosomal recessive 5 | Conflicting classifications of pathogenicity (Nov 01, 2023) | ||
5-6599948-G-A | Intellectual disability, autosomal recessive 5 • Inborn genetic diseases | Uncertain significance (Dec 20, 2023) | ||
5-6599948-G-T | Inborn genetic diseases | Uncertain significance (Dec 27, 2016) | ||
5-6599950-C-G | not specified | Likely benign (Jan 04, 2016) | ||
5-6599950-C-T | Likely benign (Jun 27, 2022) |
GnomAD
Source:
dbNSFP
Source: