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 |
417 | 599 | |
SOX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1 | 255 | |
NAALADL2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
54 | 99 | |
PIK3CA | No evidence available | No evidence available |
GRCh38 GRCh37 |
1296 | 1330 | |
ABCC5 | - | - |
GRCh38 GRCh37 |
64 | 106 | |
ABCF3 | - | - |
GRCh38 GRCh37 |
37 | 83 | |
ACTL6A | - | - |
GRCh38 GRCh37 |
35 | 65 | |
ADIPOQ | - | - |
GRCh38 GRCh37 |
- | 71 | |
AHSG | - | - |
GRCh38 GRCh37 |
54 | 95 | |
ALG3 | - | - |
GRCh38 GRCh37 |
202 | 252 |
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