ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)
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 |
407 | 584 | |
SOX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 237 | |
NAALADL2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
47 | 91 | |
NLGN1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
87 | 111 | |
PIK3CA | No evidence available | No evidence available |
GRCh38 GRCh37 |
1239 | 1273 | |
ACTL6A | - | - |
GRCh38 GRCh37 |
31 | 61 | |
ACTRT3 | - | - |
GRCh38 GRCh37 |
21 | 52 | |
ARL14 | - | - |
GRCh38 GRCh37 |
1 | 37 | |
B3GALNT1 | - | - |
GRCh38 GRCh37 |
21 | 45 | |
BCHE | - | - |
GRCh38 GRCh37 |
175 | 197 |
There are 71 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) |
|
Mar 1, 2022 | RCV002053382.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022