ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3
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 |
20 | 125 | |
FGF12 | No evidence available | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
244 | 295 | |
ACAP2 | - | - |
GRCh38 GRCh37 |
23 | 69 | |
APOD | - | - |
GRCh38 GRCh37 |
16 | 63 | |
ATP13A3 | - | - |
GRCh38 GRCh37 |
159 | 216 | |
ATP13A4 | - | - |
GRCh38 GRCh37 |
117 | 161 | |
ATP13A5 | - | - |
GRCh38 GRCh37 |
56 | 115 | |
BDH1 | - | - |
GRCh38 GRCh38 GRCh37 |
49 | 153 | |
CEP19 | - | - |
GRCh38 GRCh37 |
106 | 206 | |
CPN2 | - | - |
GRCh38 GRCh37 |
48 | 91 |
There are 40 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) |
|
Dec 4, 2017 | RCV000682346.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022