CTNS-AS1
Basic information
Region (hg38): 17:3655621-3658092
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases (73 variants)
- Nephropathic cystinosis (49 variants)
- Inborn genetic diseases;Ocular cystinosis;Juvenile nephropathic cystinosis (46 variants)
- Cystinosis (28 variants)
- not provided (21 variants)
- Ocular cystinosis (13 variants)
- Ocular cystinosis;Juvenile nephropathic cystinosis;Nephropathic cystinosis (13 variants)
- Nephropathic cystinosis;Ocular cystinosis;Juvenile nephropathic cystinosis (10 variants)
- not specified (9 variants)
- Inborn genetic diseases (8 variants)
- Ocular cystinosis;Nephropathic cystinosis;Juvenile nephropathic cystinosis (3 variants)
- Juvenile nephropathic cystinosis;Inborn genetic diseases;Ocular cystinosis (2 variants)
- Juvenile nephropathic cystinosis;Ocular cystinosis;Inborn genetic diseases (1 variants)
- Infantile nephropathic cystinosis (1 variants)
- See cases (1 variants)
- Juvenile nephropathic cystinosis (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CTNS-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) | 0 | |||||
splice region | 0 | |||||
non coding | 16 | 27 | 31 | 82 | 162 | |
Total | 16 | 27 | 31 | 82 | 6 |
Highest pathogenic variant AF is 0.0000395
Variants in CTNS-AS1
This is a list of pathogenic ClinVar variants found in the CTNS-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 |
---|---|---|---|---|
17-3655669-C-A | Benign (Dec 31, 2018) | |||
17-3656389-CTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCT-C | Inborn genetic diseases;Ocular cystinosis;Juvenile nephropathic cystinosis | Likely benign (Aug 13, 2023) | ||
17-3656425-CTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCT-C | Inborn genetic diseases;Ocular cystinosis;Juvenile nephropathic cystinosis | Likely benign (Aug 03, 2023) | ||
17-3656449-TCACCCCCTGCCCTGTCTTGTCCCTC-T | Nephropathic cystinosis | Uncertain significance (Apr 03, 2018) | ||
17-3656470-C-T | Inborn genetic diseases;Ocular cystinosis;Juvenile nephropathic cystinosis | Likely benign (Jan 25, 2024) | ||
17-3656475-C-T | Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases | Likely benign (Mar 17, 2024) | ||
17-3656477-C-A | Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases | Likely benign (Oct 17, 2023) | ||
17-3656477-C-T | Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases • Juvenile nephropathic cystinosis | Likely benign (Nov 24, 2023) | ||
17-3656478-C-T | Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases | Likely benign (Oct 17, 2023) | ||
17-3656479-C-A | Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases | Likely benign (Feb 06, 2024) | ||
17-3656480-C-A | Ocular cystinosis • not specified • Nephropathic cystinosis • CTNS-related disorder • Cystinosis • Inborn genetic diseases;Ocular cystinosis;Juvenile nephropathic cystinosis | Benign/Likely benign (Jan 31, 2025) | ||
17-3656481-C-T | Inborn genetic diseases;Juvenile nephropathic cystinosis;Ocular cystinosis | Likely benign (Feb 14, 2023) | ||
17-3656485-A-C | Nephropathic cystinosis | Pathogenic (Jul 14, 2024) | ||
17-3656486-G-A | Nephropathic cystinosis | Likely pathogenic (Feb 27, 2024) | ||
17-3656487-T-C | not specified • Nephropathic cystinosis • Ocular cystinosis • Cystinosis • Inborn genetic diseases;Ocular cystinosis;Juvenile nephropathic cystinosis | Benign (Feb 03, 2025) | ||
17-3656490-C-T | Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases | Likely benign (Apr 29, 2022) | ||
17-3656498-T-C | Nephropathic cystinosis • Cystinosis • CTNS-related disorder • Nephropathic cystinosis;Ocular cystinosis;Juvenile nephropathic cystinosis • Inborn genetic diseases;Ocular cystinosis;Juvenile nephropathic cystinosis | Pathogenic/Likely pathogenic (Mar 21, 2024) | ||
17-3656499-G-A | Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases | Likely benign (Sep 27, 2023) | ||
17-3656502-C-T | Inborn genetic diseases;Ocular cystinosis;Juvenile nephropathic cystinosis | Likely benign (Jan 23, 2020) | ||
17-3656502-CT-C | Nephropathic cystinosis | Pathogenic (Jun 28, 2019) | ||
17-3656505-C-T | not specified • Nephropathic cystinosis • Ocular cystinosis • Cystinosis • Inborn genetic diseases;Ocular cystinosis;Juvenile nephropathic cystinosis | Conflicting classifications of pathogenicity (Dec 23, 2024) | ||
17-3656506-G-A | Nephropathic cystinosis • Ocular cystinosis • Nephropathic cystinosis;Ocular cystinosis;Juvenile nephropathic cystinosis | Uncertain significance (Apr 30, 2024) | ||
17-3656510-TC-T | Nephropathic cystinosis | Likely pathogenic (Feb 26, 2024) | ||
17-3656511-C-T | Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases | Likely benign (Oct 09, 2023) | ||
17-3656512-G-A | Ocular cystinosis;Juvenile nephropathic cystinosis;Inborn genetic diseases | Likely benign (May 06, 2024) |
GnomAD
Source:
dbNSFP
Source: