ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1
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 | |||
NAF1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
174 | 219 | |
AADAT | - | - |
GRCh38 GRCh37 |
8 | 66 | |
ACSL1 | - | - |
GRCh38 GRCh37 |
42 | 154 | |
ADAM29 | - | - |
GRCh38 GRCh37 |
52 | 129 | |
AGA | - | - |
GRCh38 GRCh37 |
525 | 625 | |
ANKRD37 | - | - |
GRCh38 GRCh37 |
- | 143 | |
ANP32C | - | - |
GRCh38 GRCh37 |
- | 50 | |
ANXA10 | - | - |
GRCh38 GRCh37 |
27 | 84 | |
ASB5 | - | - |
GRCh38 GRCh37 |
22 | 101 | |
CASP3 | - | - |
GRCh38 GRCh37 |
14 | 126 |
There are 77 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) |
|
- | RCV003986532.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024