ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)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 |
374 | 418 | |
NR3C2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
287 | 332 | |
AADAT | - | - |
GRCh38 GRCh37 |
6 | 64 | |
ABCE1 | - | - |
GRCh38 GRCh37 |
12 | 42 | |
ABHD18 | - | - | - |
GRCh38 GRCh37 |
16 | 61 |
ACSL1 | - | - |
GRCh38 GRCh37 |
35 | 147 | |
ADAD1 | - | - |
GRCh38 GRCh37 |
19 | 43 | |
ADAM29 | - | - |
GRCh38 GRCh37 |
49 | 126 | |
AFG2A | - | - |
GRCh38 GRCh37 |
760 | 790 | |
AGA | - | - |
GRCh38 GRCh37 |
525 | 625 |
There are 1237 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051786.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024