ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
TBL1XR1 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
410 | 587 | |
SOX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 241 | |
NAALADL2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
47 | 91 | |
PIK3CA | No evidence available | No evidence available |
GRCh38 GRCh37 |
1240 | 1274 | |
ABCC5 | - | - |
GRCh38 GRCh37 |
61 | 103 | |
ABCF3 | - | - |
GRCh38 GRCh37 |
32 | 78 | |
ACTL6A | - | - |
GRCh38 GRCh37 |
31 | 61 | |
ADIPOQ | - | - |
GRCh38 GRCh37 |
- | 68 | |
AHSG | - | - |
GRCh38 GRCh37 |
51 | 92 | |
ALG3 | - | - |
GRCh38 GRCh37 |
199 | 248 |
There are 74 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 18, 2021 | RCV001795540.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023