ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)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 | 124 | |
FGF12 | No evidence available | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
241 | 292 | |
TP63 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
687 | 749 | |
ABCC5 | - | - |
GRCh38 GRCh37 |
61 | 103 | |
ABCF3 | - | - |
GRCh38 GRCh37 |
32 | 78 | |
ACAP2 | - | - |
GRCh38 GRCh37 |
18 | 64 | |
ADIPOQ | - | - |
GRCh38 GRCh37 |
- | 68 | |
AHSG | - | - |
GRCh38 GRCh37 |
51 | 92 | |
ALG3 | - | - |
GRCh38 GRCh37 |
197 | 246 | |
AP2M1 | - | - |
GRCh38 GRCh37 |
203 | 263 |
There are 110 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV002286344.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 01, 2022