FLNB-AS1
Basic information
Region (hg38): 3:58162547-58170636
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FLNB-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 | 74 | 73 | 16 | 166 | ||
Total | 2 | 1 | 74 | 73 | 16 |
Variants in FLNB-AS1
This is a list of pathogenic ClinVar variants found in the FLNB-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 |
---|---|---|---|---|
3-58163144-A-G | Likely benign (Feb 20, 2018) | |||
3-58163146-TCTC-T | Likely benign (Sep 13, 2024) | |||
3-58163150-C-T | Likely benign (Jun 03, 2023) | |||
3-58163161-T-C | Likely benign (Mar 08, 2023) | |||
3-58163161-T-G | Spondylocarpotarsal synostosis syndrome | not provided (-) | ||
3-58163168-C-A | Inborn genetic diseases | Uncertain significance (Dec 12, 2024) | ||
3-58163168-C-T | Inborn genetic diseases • Atelosteogenesis type I;Boomerang dysplasia;Atelosteogenesis type III;Spondylocarpotarsal synostosis syndrome;Larsen syndrome | Conflicting classifications of pathogenicity (Dec 24, 2024) | ||
3-58163169-G-A | Likely benign (Jan 26, 2025) | |||
3-58163170-C-T | Likely benign (Dec 27, 2021) | |||
3-58163173-C-A | FLNB-Related Spectrum Disorders | Conflicting classifications of pathogenicity (Jan 29, 2025) | ||
3-58163178-C-T | Inborn genetic diseases | Uncertain significance (Dec 15, 2023) | ||
3-58163183-G-A | Uncertain significance (Jul 29, 2022) | |||
3-58163189-G-C | Uncertain significance (Aug 20, 2024) | |||
3-58163190-G-T | Uncertain significance (Jun 10, 2024) | |||
3-58163192-G-A | Uncertain significance (May 19, 2023) | |||
3-58163195-C-G | Uncertain significance (Dec 15, 2022) | |||
3-58163197-C-T | FLNB-Related Spectrum Disorders | Conflicting classifications of pathogenicity (Oct 26, 2022) | ||
3-58163203-C-T | Likely benign (Mar 31, 2023) | |||
3-58163204-G-A | Uncertain significance (May 13, 2023) | |||
3-58163224-C-T | Likely benign (Apr 12, 2022) | |||
3-58163227-C-T | Likely benign (Dec 31, 2024) | |||
3-58163228-G-A | Likely benign (Sep 06, 2024) | |||
3-58163231-G-A | FLNB-Related Spectrum Disorders • not specified | Benign/Likely benign (Jan 23, 2025) | ||
3-58163232-T-C | Uncertain significance (Jan 25, 2025) | |||
3-58163238-G-T | Uncertain significance (Aug 29, 2022) |
GnomAD
Source:
dbNSFP
Source: