ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q29(chr3:194338534-197693741)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 |
19 | 124 | |
ACAP2 | - | - |
GRCh38 GRCh37 |
18 | 64 | |
APOD | - | - |
GRCh38 GRCh37 |
16 | 63 | |
ATP13A3 | - | - |
GRCh38 GRCh37 |
155 | 211 | |
ATP13A3-DT | - | - | - | GRCh38 | - | 19 |
BDH1 | - | - |
GRCh38 GRCh38 GRCh37 |
44 | 148 | |
CEP19 | - | - |
GRCh38 GRCh37 |
106 | 206 | |
CPN2 | - | - |
GRCh38 GRCh37 |
44 | 87 | |
DLG1 | - | - |
GRCh38 GRCh37 |
66 | 173 | |
DLG1-AS1 | - | - | - | GRCh38 | - | 50 |
There are 231 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) |
|
Dec 22, 2010 | RCV000136517.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024