ZNF8-DT
Basic information
Region (hg38): 19:58257270-58278857
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (37 variants)
- not provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF8-DT 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 | 34 | 39 | ||||
Total | 0 | 0 | 34 | 4 | 1 |
Variants in ZNF8-DT
This is a list of pathogenic ClinVar variants found in the ZNF8-DT region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-58260874-A-C | not specified | Uncertain significance (Oct 21, 2021) | ||
19-58260899-G-A | not specified | Uncertain significance (Apr 26, 2023) | ||
19-58260939-G-C | not specified | Uncertain significance (Jun 17, 2024) | ||
19-58260964-T-A | not specified | Uncertain significance (Mar 03, 2022) | ||
19-58260984-A-C | not specified | Likely benign (Sep 07, 2022) | ||
19-58261078-G-A | not specified | Uncertain significance (Jul 14, 2021) | ||
19-58261090-G-T | not specified | Uncertain significance (Mar 14, 2023) | ||
19-58261118-T-C | not specified | Uncertain significance (Dec 11, 2023) | ||
19-58261154-G-A | not specified | Uncertain significance (Jun 09, 2022) | ||
19-58261184-A-G | not specified | Uncertain significance (Jan 23, 2023) | ||
19-58261194-A-T | not specified | Uncertain significance (May 01, 2024) | ||
19-58261250-G-A | not specified | Likely benign (Mar 07, 2024) | ||
19-58261255-C-A | not specified | Uncertain significance (Jun 17, 2024) | ||
19-58261261-G-A | not specified | Uncertain significance (Dec 15, 2023) | ||
19-58261282-A-G | not specified | Uncertain significance (Mar 06, 2023) | ||
19-58261306-G-A | not specified | Likely benign (May 12, 2024) | ||
19-58261319-A-G | not specified | Uncertain significance (May 09, 2023) | ||
19-58261397-T-C | not specified | Uncertain significance (Dec 13, 2023) | ||
19-58261424-A-G | not specified | Uncertain significance (Aug 10, 2021) | ||
19-58261441-T-C | not specified | Uncertain significance (Mar 14, 2023) | ||
19-58261488-G-A | Likely benign (Oct 01, 2022) | |||
19-58261517-G-A | not specified | Uncertain significance (Dec 16, 2021) | ||
19-58261518-G-C | not specified | Uncertain significance (Feb 14, 2023) | ||
19-58261590-T-G | not specified | Uncertain significance (May 16, 2024) | ||
19-58261615-A-G | not specified | Likely benign (Oct 27, 2023) |
GnomAD
Source:
dbNSFP
Source: