SYNE1-AS1
Basic information
Region (hg38): 6:152380489-152381777
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (41 variants)
- Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant (33 variants)
- Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type (17 variants)
- Autosomal recessive ataxia, Beauce type (3 variants)
- Emery-Dreifuss muscular dystrophy 4, autosomal dominant (2 variants)
- not specified (2 variants)
- Arthrogryposis multiplex congenita 3, myogenic type (2 variants)
- SYNE1-related condition (1 variants)
- Inborn genetic diseases (1 variants)
- - (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SYNE1-AS1 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 | 45 | 24 | 76 | |||
Total | 5 | 1 | 46 | 24 | 1 |
Highest pathogenic variant AF is 0.00000657
Variants in SYNE1-AS1
This is a list of pathogenic ClinVar variants found in the SYNE1-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-152380861-C-T | Benign (Jun 26, 2018) | |||
6-152380992-G-A | Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant | Likely benign (Apr 22, 2024) | ||
6-152380994-A-G | Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant | Likely benign (Sep 27, 2024) | ||
6-152381001-C-A | Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type | Uncertain significance (Jan 19, 2018) | ||
6-152381005-C-T | Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant | Likely pathogenic (Aug 31, 2024) | ||
6-152381009-T-C | Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type | Likely benign (Jul 29, 2022) | ||
6-152381015-G-T | Uncertain significance (Jan 17, 2017) | |||
6-152381021-G-A | Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant | Likely benign (Nov 01, 2022) | ||
6-152381023-A-G | Uncertain significance (Oct 01, 2023) | |||
6-152381031-A-G | Autosomal recessive ataxia, Beauce type | Uncertain significance (Feb 01, 2019) | ||
6-152381032-T-A | Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type | Uncertain significance (Jul 30, 2022) | ||
6-152381038-C-T | Uncertain significance (Jun 05, 2024) | |||
6-152381042-C-T | not specified • Emery-Dreifuss muscular dystrophy 4, autosomal dominant • Autosomal recessive ataxia, Beauce type • Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant • SYNE1-related disorder | Conflicting classifications of pathogenicity (Jan 27, 2025) | ||
6-152381043-G-A | Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type | Uncertain significance (Dec 03, 2024) | ||
6-152381058-A-G | Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type | Uncertain significance (Mar 08, 2023) | ||
6-152381069-C-T | Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type | Likely benign (Mar 12, 2023) | ||
6-152381078-C-G | Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type | Uncertain significance (Oct 14, 2024) | ||
6-152381081-G-A | Uncertain significance (Aug 07, 2017) | |||
6-152381097-C-T | Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant | Uncertain significance (Nov 20, 2023) | ||
6-152381101-A-T | Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type | Uncertain significance (Jun 07, 2022) | ||
6-152381110-G-C | Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type | Uncertain significance (Oct 10, 2023) | ||
6-152381122-G-A | Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type | Likely benign (Mar 02, 2022) | ||
6-152381125-G-A | Pathogenic (Apr 26, 2017) | |||
6-152381125-GA-G | - | no classification for the single variant (-) | ||
6-152381127-G-T | Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant | Uncertain significance (Oct 03, 2024) |
GnomAD
Source:
dbNSFP
Source: