TARID
Basic information
Region (hg38): 6:133485013-133953083
Previous symbols: [ "EYA4-AS1" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Dilated cardiomyopathy 1J (233 variants)
- not provided (101 variants)
- Autosomal dominant nonsyndromic hearing loss 10 (71 variants)
- Cardiovascular phenotype (57 variants)
- not specified (17 variants)
- Dilated cardiomyopathy 1J;Autosomal dominant nonsyndromic hearing loss 10 (11 variants)
- Inborn genetic diseases (7 variants)
- Autosomal dominant nonsyndromic hearing loss 10;Dilated cardiomyopathy 1J (4 variants)
- EYA4-related condition (4 variants)
- Dilated Cardiomyopathy, Dominant (3 variants)
- Nonsyndromic Hearing Loss, Dominant (3 variants)
- Hearing impairment (2 variants)
- EYA4-Related Disorders (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TARID 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) | 1 | |||||
splice region | 0 | |||||
non coding | 10 | 186 | 100 | 33 | 334 | |
Total | 10 | 5 | 187 | 100 | 33 |
Highest pathogenic variant AF is 0.00000657
Variants in TARID
This is a list of pathogenic ClinVar variants found in the TARID region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-133506010-T-C | Benign (Jun 24, 2018) | |||
6-133506081-CATTAT-C | Dilated cardiomyopathy 1J | Likely benign (Mar 18, 2022) | ||
6-133506086-T-C | Dilated cardiomyopathy 1J | Likely benign (Nov 22, 2022) | ||
6-133506092-C-T | Dilated cardiomyopathy 1J | Likely benign (Jan 28, 2024) | ||
6-133506093-A-G | Dilated cardiomyopathy 1J | Likely benign (Jan 13, 2024) | ||
6-133506103-C-T | Dilated cardiomyopathy 1J | Uncertain significance (Oct 03, 2022) | ||
6-133506106-G-T | Dilated cardiomyopathy 1J | Uncertain significance (May 05, 2023) | ||
6-133506109-C-T | Dilated cardiomyopathy 1J | Uncertain significance (Oct 31, 2022) | ||
6-133506110-C-T | Cardiovascular phenotype | Uncertain significance (Nov 19, 2021) | ||
6-133506111-C-A | Dilated cardiomyopathy 1J • Cardiovascular phenotype | Likely benign (Mar 29, 2021) | ||
6-133506111-C-G | Cardiovascular phenotype | Likely benign (Apr 06, 2024) | ||
6-133506111-C-T | Dilated cardiomyopathy 1J • Cardiovascular phenotype | Likely benign (Jul 13, 2022) | ||
6-133506116-T-C | Dilated cardiomyopathy 1J | Uncertain significance (Sep 11, 2023) | ||
6-133506118-G-T | Cardiovascular phenotype • Dilated cardiomyopathy 1J | Uncertain significance (Apr 19, 2022) | ||
6-133506125-C-A | Uncertain significance (Dec 21, 2023) | |||
6-133506126-C-A | Dilated cardiomyopathy 1J • Cardiovascular phenotype | Likely benign (Dec 12, 2023) | ||
6-133506130-G-A | Uncertain significance (Aug 24, 2022) | |||
6-133506134-TCCGCA-T | Dilated cardiomyopathy 1J | Pathogenic (Mar 27, 2018) | ||
6-133506135-C-T | Cardiovascular phenotype | Likely benign (Mar 09, 2022) | ||
6-133506136-C-T | Dilated cardiomyopathy 1J • Cardiovascular phenotype | Uncertain significance (Dec 12, 2023) | ||
6-133506137-G-A | not specified • Dilated cardiomyopathy 1J • Autosomal dominant nonsyndromic hearing loss 10 • Cardiovascular phenotype | Uncertain significance (Nov 17, 2023) | ||
6-133506140-T-G | Dilated cardiomyopathy 1J | Uncertain significance (Apr 19, 2022) | ||
6-133506145-G-A | Dilated cardiomyopathy 1J | Uncertain significance (May 30, 2021) | ||
6-133506148-A-T | Dilated cardiomyopathy 1J | Uncertain significance (May 09, 2019) | ||
6-133506152-TTTTTAATC-T | EYA4-related disorder | Pathogenic (Sep 12, 2023) |
GnomAD
Source:
dbNSFP
Source: