ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q24-29(chr3:147521892-198096565)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 |
406 | 582 | |
SOX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
- | 235 | |
PAK2 | Little evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
18 | 120 | |
FGF12 | No evidence available | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
239 | 288 | |
TP63 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
684 | 744 | |
NAALADL2 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
36 | 73 | |
NLGN1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
76 | 100 | |
PIK3CA | No evidence available | No evidence available |
GRCh38 GRCh37 |
1175 | 1209 | |
AADAC | - | - |
GRCh38 GRCh37 |
- | 44 | |
AADACL2 | - | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 31 |
There are 1441 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) |
|
Aug 12, 2011 | RCV000051725.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 28, 2023