ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p25.3-25.2(chr3:10922740-12456978)x1
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 | |||
SLC6A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
658 | 938 | |
ATG7 | - | - |
GRCh38 GRCh37 |
66 | 121 | |
HRH1 | - | - |
GRCh38 GRCh37 |
12 | 47 | |
PPARG | - | - |
GRCh38 GRCh37 |
154 | 206 | |
SLC6A11 | - | - |
GRCh38 GRCh37 |
38 | 78 | |
SYN2 | - | - |
GRCh38 GRCh37 |
30 | 84 | |
TAMM41 | - | - |
GRCh38 GRCh38 GRCh37 |
27 | 55 | |
TIMP4 | - | - |
GRCh38 GRCh37 |
- | 51 | |
VGLL4 | - | - |
GRCh38 GRCh37 |
5 | 55 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 1, 2021 | RCV001827612.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 17, 2022