SOX9-AS1
Basic information
Region (hg38): 17:72067099-72237203
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 SOX9-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 | 5 | |||||
Total | 0 | 0 | 0 | 2 | 3 |
Variants in SOX9-AS1
This is a list of pathogenic ClinVar variants found in the SOX9-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 |
---|---|---|---|---|
17-72120678-T-TGCGC | Likely benign (Aug 20, 2020) | |||
17-72120683-GCA-G | Benign (Aug 23, 2019) | |||
17-72120683-G-GCA | Benign (Aug 08, 2019) | |||
17-72120683-G-GCGCA | Benign (Aug 06, 2019) | |||
17-72120683-G-GCGCACA | Likely benign (Jul 19, 2020) | |||
17-72121223-G-A | Benign/Likely benign (Oct 08, 2021) | |||
17-72121236-T-A | Likely benign (Jul 30, 2019) | |||
17-72121309-G-A | Benign (Mar 03, 2015) | |||
17-72121400-C-G | Camptomelic dysplasia | Likely benign (Sep 04, 2024) | ||
17-72121404-G-A | Inborn genetic diseases | Uncertain significance (May 30, 2024) | ||
17-72121406-C-G | Camptomelic dysplasia | Uncertain significance (Jun 25, 2022) | ||
17-72121406-C-T | Camptomelic dysplasia | Conflicting classifications of pathogenicity (Mar 30, 2023) | ||
17-72121407-C-T | Camptomelic dysplasia • Inborn genetic diseases | Conflicting classifications of pathogenicity (Jan 06, 2025) | ||
17-72121409-C-T | not specified • Camptomelic dysplasia | Likely benign (Nov 11, 2024) | ||
17-72121415-G-A | Camptomelic dysplasia • Inborn genetic diseases | Uncertain significance (Jan 12, 2025) | ||
17-72121422-A-C | Inborn genetic diseases | Uncertain significance (Oct 20, 2024) | ||
17-72121431-CAGG-C | Uncertain significance (Nov 26, 2024) | |||
17-72121433-G-A | Camptomelic dysplasia | Benign (Jan 15, 2025) | ||
17-72121439-G-A | Camptomelic dysplasia • SOX9-related disorder | Likely benign (Nov 05, 2024) | ||
17-72121444-T-C | Camptomelic dysplasia | Uncertain significance (May 09, 2023) | ||
17-72121446-T-A | Camptomelic dysplasia | Likely benign (Jul 09, 2021) | ||
17-72121447-C-T | Camptomelic dysplasia | Uncertain significance (Apr 29, 2024) | ||
17-72121450-G-C | Camptomelic dysplasia | Uncertain significance (May 19, 2022) | ||
17-72121452-G-A | Prostate cancer | Uncertain significance (-) | ||
17-72121452-GC-G | SOX9-related disorder | Likely pathogenic (Jan 05, 2024) |
GnomAD
Source:
dbNSFP
Source: