ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)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 |
19 | 123 | |
FGF12 | No evidence available | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
239 | 289 | |
TP63 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
685 | 746 | |
ACAP2 | - | - |
GRCh38 GRCh37 |
18 | 63 | |
ADIPOQ | - | - |
GRCh38 GRCh37 |
- | 68 | |
AHSG | - | - |
GRCh38 GRCh37 |
51 | 92 | |
APOD | - | - |
GRCh38 GRCh37 |
16 | 62 | |
ATP13A3 | - | - |
GRCh38 GRCh37 |
154 | 210 | |
ATP13A4 | - | - |
GRCh38 GRCh37 |
100 | 143 | |
ATP13A5 | - | - |
GRCh38 GRCh37 |
49 | 107 |
There are 95 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 6, 2017 | RCV000682339.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022