DOCK6-AS1
Basic information
Region (hg38): 19:11197618-11221809
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 DOCK6-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 | 0 | |||||
Total | 0 | 0 | 0 | 0 | 0 |
Variants in DOCK6-AS1
This is a list of pathogenic ClinVar variants found in the DOCK6-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 |
---|---|---|---|---|
19-11199195-C-T | Benign (Nov 08, 2018) | |||
19-11199277-C-T | Likely benign (Jan 13, 2019) | |||
19-11199430-C-T | Benign/Likely benign (Mar 01, 2023) | |||
19-11199503-G-A | Likely benign (May 27, 2022) | |||
19-11199513-C-T | Adams-Oliver syndrome 2 • Inborn genetic diseases | Uncertain significance (Oct 15, 2022) | ||
19-11199530-C-A | Inborn genetic diseases | Uncertain significance (May 11, 2022) | ||
19-11199530-C-G | Uncertain significance (Jul 26, 2022) | |||
19-11199530-CAAG-C | Uncertain significance (Jun 01, 2022) | |||
19-11199532-A-T | Inborn genetic diseases | Uncertain significance (Mar 31, 2023) | ||
19-11199542-G-A | Uncertain significance (Jul 14, 2022) | |||
19-11199544-A-G | Likely benign (Jun 12, 2024) | |||
19-11199549-G-C | Likely benign (Apr 10, 2024) | |||
19-11199712-C-T | Likely benign (Jul 10, 2019) | |||
19-11200159-AC-A | Benign (Aug 18, 2019) | |||
19-11200160-C-A | Benign (Aug 06, 2019) | |||
19-11200244-C-T | Benign (Nov 08, 2018) | |||
19-11200290-G-T | Likely benign (Jul 12, 2022) | |||
19-11200293-C-T | Likely benign (Aug 31, 2023) | |||
19-11200298-G-A | Likely benign (Oct 22, 2024) | |||
19-11200310-G-C | Uncertain significance (May 12, 2022) | |||
19-11200312-G-A | Adams-Oliver syndrome 2 | Likely benign (Nov 04, 2024) | ||
19-11200316-G-A | Likely benign (Apr 15, 2022) | |||
19-11200323-G-C | Intellectual disability | Likely benign (Jan 01, 2019) | ||
19-11200343-C-G | Likely benign (May 13, 2022) | |||
19-11200348-G-A | Uncertain significance (Jul 19, 2022) |
GnomAD
Source:
dbNSFP
Source: