ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
TBC1D5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
28 | 53 | |
ANKRD28 | - | - |
GRCh38 GRCh37 |
- | 61 | |
BALR6 | - | - | - | GRCh38 | - | 10 |
BTD | - | - |
GRCh38 GRCh37 |
645 | 705 | |
C3orf20 | - | - |
GRCh38 GRCh37 |
11 | 31 | |
CAPN7 | - | - |
GRCh38 GRCh37 |
25 | 46 | |
CCDC174 | - | - |
GRCh38 GRCh37 |
60 | 89 | |
COLQ | - | - |
GRCh38 GRCh37 |
563 | 588 | |
DAZL | - | - |
GRCh38 GRCh37 |
26 | 46 | |
DPH3 | - | - |
GRCh38 GRCh37 |
1 | 27 |
There are 206 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 18, 2014 | RCV000143767.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023