ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)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 | |||
AADAT | - | - |
GRCh38 GRCh37 |
6 | 64 | |
ADAM29 | - | - |
GRCh38 GRCh37 |
49 | 126 | |
AGA | - | - |
GRCh38 GRCh37 |
525 | 625 | |
ANP32C | - | - |
GRCh38 GRCh37 |
- | 50 | |
ANXA10 | - | - |
GRCh38 GRCh37 |
22 | 79 | |
ASB5 | - | - |
GRCh38 GRCh37 |
20 | 99 | |
CBR4 | - | - |
GRCh38 GRCh37 |
15 | 738 | |
CEP44 | - | - |
GRCh38 GRCh37 |
22 | 94 | |
CLCN3 | - | - |
GRCh38 GRCh37 |
80 | 143 | |
CPE | - | - |
GRCh38 GRCh37 |
73 | 128 |
There are 38 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Sep 16, 2014 | RCV000512340.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024