KIF23-AS1
Basic information
Region (hg38): 15:69396897-69462856
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (3 variants)
- Inborn genetic diseases (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF23-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 | 6 | |||||
Total | 0 | 0 | 5 | 0 | 1 |
Variants in KIF23-AS1
This is a list of pathogenic ClinVar variants found in the KIF23-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 |
---|---|---|---|---|
15-69397475-G-A | not specified | Uncertain significance (Nov 09, 2022) | ||
15-69397560-A-G | not specified | Uncertain significance (Jan 06, 2023) | ||
15-69399974-C-G | not specified | Uncertain significance (Jan 10, 2023) | ||
15-69403638-A-C | not specified | Uncertain significance (May 24, 2024) | ||
15-69414437-C-T | Uncertain significance (Nov 10, 2021) | |||
15-69414484-C-A | Uncertain significance (Jun 22, 2022) | |||
15-69414493-C-G | Likely benign (Apr 07, 2023) | |||
15-69414535-T-TGGGGGCAGGCGTCTCCACTCA | Benign (Oct 07, 2019) | |||
15-69415975-T-A | Likely benign (Nov 08, 2022) | |||
15-69415979-T-C | Likely benign (Aug 17, 2022) | |||
15-69415990-C-CCA | Uncertain significance (Jan 02, 2024) | |||
15-69416009-C-T | Likely benign (Jul 06, 2018) | |||
15-69416039-A-G | Likely benign (Jul 10, 2023) | |||
15-69416041-C-T | KIF23-related disorder | Uncertain significance (Dec 30, 2023) | ||
15-69416045-C-A | Uncertain significance (Nov 29, 2022) | |||
15-69416045-C-T | Likely benign (Nov 01, 2022) | |||
15-69416058-G-A | Uncertain significance (Apr 04, 2023) | |||
15-69416069-G-A | KIF23-related disorder | Benign (Jan 29, 2024) | ||
15-69417347-G-A | Benign (Jul 09, 2018) | |||
15-69417385-A-G | Benign (Nov 07, 2023) | |||
15-69417390-G-A | not specified | Uncertain significance (Jul 26, 2022) | ||
15-69417390-G-T | not specified | Uncertain significance (Sep 26, 2023) | ||
15-69417401-C-A | not specified | Conflicting classifications of pathogenicity (Dec 27, 2023) | ||
15-69417409-C-A | Benign (Jan 31, 2024) | |||
15-69417422-G-A | not specified | Uncertain significance (Dec 16, 2023) |
GnomAD
Source:
dbNSFP
Source: