ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q28-29(chr3:189265371-198110178)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 | |||
PAK2 | Little evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
20 | 125 | |
FGF12 | No evidence available | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
244 | 295 | |
TP63 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
693 | 755 | |
ACAP2 | - | - |
GRCh38 GRCh37 |
23 | 69 | |
APOD | - | - |
GRCh38 GRCh37 |
16 | 63 | |
ATP13A3 | - | - |
GRCh38 GRCh37 |
159 | 216 | |
ATP13A3-DT | - | - | - | GRCh38 | - | 19 |
ATP13A4 | - | - |
GRCh38 GRCh37 |
117 | 161 | |
ATP13A4-AS1 | - | - | - | GRCh38 | - | 20 |
ATP13A5 | - | - |
GRCh38 GRCh37 |
56 | 115 |
There are 403 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051739.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024