LINC02931
Basic information
Region (hg38): X:137412444-137569203
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 LINC02931 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 LINC02931
This is a list of pathogenic ClinVar variants found in the LINC02931 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
X-137565967-C-T | Benign (May 17, 2021) | |||
X-137566213-C-T | Heterotaxy, visceral, 1, X-linked • Congenital heart defects 1, nonsyndromic, 1 • VACTERL association, X-linked, with or without hydrocephalus | Uncertain significance (Jan 12, 2018) | ||
X-137566268-C-A | Heterotaxy, visceral, 1, X-linked • VACTERL association, X-linked, with or without hydrocephalus | Uncertain significance (Jan 13, 2018) | ||
X-137566357-C-T | Heterotaxy, visceral, 1, X-linked • VACTERL association, X-linked, with or without hydrocephalus | Uncertain significance (Jan 13, 2018) | ||
X-137566523-A-C | Heterotaxy, visceral, 1, X-linked • VACTERL association, X-linked, with or without hydrocephalus | Uncertain significance (Jan 13, 2018) | ||
X-137566709-C-T | Heterotaxy, visceral, 1, X-linked | Likely benign (Aug 23, 2022) | ||
X-137566710-G-C | Heterotaxy, visceral, 1, X-linked | Conflicting classifications of pathogenicity (Mar 26, 2021) | ||
X-137566717-C-G | Inborn genetic diseases | Uncertain significance (Dec 20, 2023) | ||
X-137566722-T-C | Uncertain significance (Dec 13, 2022) | |||
X-137566727-T-C | Heterotaxy, visceral, 1, X-linked | Likely benign (Nov 28, 2023) | ||
X-137566740-G-T | Heterotaxy, visceral, 1, X-linked • VACTERL association, X-linked, with or without hydrocephalus • not specified • Congenital heart defects 1, nonsyndromic, 1 | Benign/Likely benign (Jul 01, 2024) | ||
X-137566745-C-T | Heterotaxy, visceral, 1, X-linked | Likely benign (May 06, 2022) | ||
X-137566766-C-G | Inborn genetic diseases | Uncertain significance (Jan 03, 2017) | ||
X-137566767-G-C | VACTERL association, X-linked, with or without hydrocephalus | Uncertain significance (-) | ||
X-137566771-T-C | ZIC3-related disorder | Uncertain significance (Apr 17, 2024) | ||
X-137566783-A-T | Heterotaxy, visceral, 1, X-linked | Uncertain significance (Nov 08, 2019) | ||
X-137566788-G-T | Heterotaxy, visceral, 1, X-linked • Inborn genetic diseases | Uncertain significance (Oct 13, 2023) | ||
X-137566789-C-T | Heterotaxy, visceral, 1, X-linked | Likely benign (Jul 17, 2023) | ||
X-137566796-G-A | Heterotaxy, visceral, 1, X-linked | Uncertain significance (Jul 21, 2018) | ||
X-137566799-GCTGA-G | Heterotaxy, visceral, 1, X-linked | Pathogenic (Jan 12, 2023) | ||
X-137566807-C-T | VACTERL association, X-linked, with or without hydrocephalus • Heterotaxy, visceral, 1, X-linked | Uncertain significance (Jan 12, 2018) | ||
X-137566819-C-A | Heterotaxy, visceral, 1, X-linked | Pathogenic (May 28, 2018) | ||
X-137566819-C-G | Heterotaxy, visceral, 1, X-linked | Pathogenic (Nov 27, 2019) | ||
X-137566822-C-G | Congenital heart defects 1, nonsyndromic, 1 • VACTERL association, X-linked, with or without hydrocephalus • Heterotaxy, visceral, 1, X-linked | Conflicting classifications of pathogenicity (Jan 12, 2018) | ||
X-137566825-ACGC-A | Heterotaxy, visceral, 1, X-linked • ZIC3-related disorder | Conflicting classifications of pathogenicity (May 28, 2019) |
GnomAD
Source:
dbNSFP
Source: