TBX3-AS1
Basic information
Region (hg38): 12:114681703-114767992
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Ulnar-mammary syndrome (58 variants)
- not provided (21 variants)
- Inborn genetic diseases (4 variants)
- not specified (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TBX3-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 | 37 | 14 | 18 | 73 | ||
Total | 2 | 2 | 37 | 15 | 18 |
Variants in TBX3-AS1
This is a list of pathogenic ClinVar variants found in the TBX3-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 |
---|---|---|---|---|
12-114682517-C-CT | Benign (Aug 15, 2019) | |||
12-114682789-GGGA-G | Ulnar-mammary syndrome | Likely benign (Jun 19, 2023) | ||
12-114682816-C-T | Uncertain significance (Jun 04, 2021) | |||
12-114682818-G-A | Inborn genetic diseases | Uncertain significance (May 30, 2024) | ||
12-114682823-G-A | Ulnar-mammary syndrome | Likely benign (Jan 12, 2024) | ||
12-114682831-C-A | Inborn genetic diseases | Likely pathogenic (Nov 06, 2017) | ||
12-114682835-C-T | Ulnar-mammary syndrome | Likely benign (Mar 20, 2023) | ||
12-114682838-G-A | TBX3-related disorder | Likely benign (Oct 07, 2021) | ||
12-114682864-A-C | Ulnar-mammary syndrome | Likely pathogenic (Jan 27, 2022) | ||
12-114682865-A-C | Ulnar-mammary syndrome | Likely benign (Mar 02, 2023) | ||
12-114682877-C-T | Ulnar-mammary syndrome • TBX3-related disorder | Uncertain significance (Jan 13, 2018) | ||
12-114682891-T-TG | Ulnar-mammary syndrome | Likely pathogenic (Jun 22, 2023) | ||
12-114682892-G-A | Ulnar-mammary syndrome | Benign (Jan 12, 2018) | ||
12-114682915-C-T | TBX3-related disorder | Uncertain significance (Aug 09, 2024) | ||
12-114682918-G-A | Inborn genetic diseases • Ulnar-mammary syndrome | Uncertain significance (Oct 07, 2023) | ||
12-114682919-C-T | Ulnar-mammary syndrome • TBX3-related disorder | Likely benign (Nov 27, 2023) | ||
12-114682920-T-C | Likely benign (Dec 29, 2017) | |||
12-114682923-A-C | TBX3-related disorder | Uncertain significance (Jan 16, 2024) | ||
12-114682937-C-G | Ulnar-mammary syndrome | Uncertain significance (Oct 04, 2023) | ||
12-114682938-C-T | Ulnar-mammary syndrome | Uncertain significance (Jan 12, 2018) | ||
12-114682947-G-A | TBX3-related disorder | Uncertain significance (Aug 22, 2024) | ||
12-114682947-G-T | Inborn genetic diseases | Uncertain significance (Jul 26, 2022) | ||
12-114682954-G-T | Ulnar-mammary syndrome | Uncertain significance (Nov 08, 2019) | ||
12-114682955-C-T | Ulnar-mammary syndrome • TBX3-related disorder | Likely benign (Mar 30, 2023) | ||
12-114682967-G-A | TBX3-related disorder | Likely benign (May 11, 2023) |
GnomAD
Source:
dbNSFP
Source: