ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
NAA15 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
363 | 407 | |
NR3C2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
278 | 323 | |
ABCE1 | - | - |
GRCh38 GRCh37 |
11 | 41 | |
ANAPC10 | - | - |
GRCh38 GRCh37 |
6 | 38 | |
ANP32C | - | - |
GRCh38 GRCh37 |
- | 50 | |
ARFIP1 | - | - |
GRCh38 GRCh37 |
10 | 38 | |
ARHGAP10 | - | - |
GRCh38 GRCh37 |
49 | 89 | |
ASIC5 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 57 | |
C4orf45 | - | - | - |
GRCh38 GRCh37 |
- | 12 |
C4orf46 | - | - |
GRCh38 GRCh37 |
2 | 47 |
There are 100 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) |
|
Apr 26, 2019 | RCV001537926.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023