ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)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 | |||
NAA15 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
363 | 410 | |
NR3C2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
279 | 324 | |
AADAT | - | - |
GRCh38 GRCh37 |
4 | 63 | |
ABCE1 | - | - |
GRCh38 GRCh37 |
11 | 46 | |
ABHD18 | - | - | - |
GRCh38 GRCh37 |
11 | 58 |
ACSL1 | - | - |
GRCh38 GRCh37 |
25 | 136 | |
ADAM29 | - | - |
GRCh38 GRCh37 |
36 | 110 | |
AGA | - | - |
GRCh38 GRCh37 |
515 | 613 | |
AGA-DT | - | - | - | GRCh38 | - | 49 |
ANAPC10 | - | - |
GRCh38 GRCh37 |
5 | 36 |
There are 1094 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 5, 2011 | RCV000138578.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023