LINC02289
Basic information
Region (hg38): 14:76959805-77086457
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 LINC02289 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 LINC02289
This is a list of pathogenic ClinVar variants found in the LINC02289 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
14-77025406-G-A | IRF2BPL-related disorder | Uncertain significance (Aug 04, 2023) | ||
14-77025413-TCTC-T | Uncertain significance (Nov 22, 2022) | |||
14-77025439-G-A | Inborn genetic diseases | Uncertain significance (Jun 01, 2023) | ||
14-77025448-G-A | Uncertain significance (Dec 18, 2019) | |||
14-77025484-T-C | Uncertain significance (Mar 10, 2020) | |||
14-77025494-C-G | IRF2BPL-related disorder • Inborn genetic diseases | Uncertain significance (Aug 09, 2021) | ||
14-77025505-T-C | Inborn genetic diseases | Uncertain significance (Feb 05, 2024) | ||
14-77025531-G-T | Likely benign (Feb 01, 2024) | |||
14-77025555-ACT-A | Likely pathogenic (Aug 01, 2019) | |||
14-77025571-G-C | Uncertain significance (Feb 09, 2024) | |||
14-77025573-G-A | Likely benign (Sep 01, 2023) | |||
14-77025587-G-T | Uncertain significance (Feb 22, 2024) | |||
14-77025589-C-A | Rare genetic intellectual disability | Uncertain significance (-) | ||
14-77025590-T-A | IRF2BPL-related disorder | Likely benign (Jul 01, 2024) | ||
14-77025593-G-A | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures • IRF2BPL-related disorder | Uncertain significance (Sep 17, 2023) | ||
14-77025596-C-A | Uncertain significance (Dec 18, 2023) | |||
14-77025632-GT-G | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | Pathogenic (Nov 29, 2022) | ||
14-77025640-CA-C | Inborn genetic diseases | Likely pathogenic (Nov 14, 2017) | ||
14-77025654-GA-G | Pathogenic (Dec 01, 2020) | |||
14-77025655-AG-A | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | Likely pathogenic (Aug 25, 2022) | ||
14-77025655-A-AGG | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | Likely pathogenic (Sep 27, 2022) | ||
14-77025657-G-GAC | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | Pathogenic (Jul 02, 2020) | ||
14-77025670-G-C | Uncertain significance (Nov 27, 2023) | |||
14-77025670-GC-G | IRF2BPL-related disorder | Pathogenic/Likely pathogenic (May 20, 2022) | ||
14-77025672-C-G | Uncertain significance (Jan 24, 2023) |
GnomAD
Source:
dbNSFP
Source: