ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)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 |
371 | 415 | |
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 | |
ADAM29 | - | - |
GRCh38 GRCh37 |
49 | 125 | |
AFG2A | - | - |
GRCh38 GRCh37 |
759 | 786 | |
AGA | - | - |
GRCh38 GRCh37 |
515 | 615 | |
ANAPC10 | - | - |
GRCh38 GRCh37 |
10 | 42 |
There are 189 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) |
|
- | RCV003986533.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024