ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545)
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 | |||
ACSL1 | - | - |
GRCh38 GRCh37 |
42 | 154 | |
ADAM29 | - | - |
GRCh38 GRCh37 |
52 | 129 | |
AGA | - | - |
GRCh38 GRCh37 |
525 | 625 | |
ANKRD37 | - | - |
GRCh38 GRCh37 |
- | 143 | |
ASB5 | - | - |
GRCh38 GRCh37 |
22 | 101 | |
CASP3 | - | - |
GRCh38 GRCh37 |
14 | 126 | |
CCDC110 | - | - |
GRCh38 GRCh37 |
44 | 186 | |
CDKN2AIP | - | - |
GRCh38 GRCh37 |
34 | 137 | |
CENPU | - | - |
GRCh38 GRCh37 |
33 | 153 | |
CEP44 | - | - |
GRCh38 GRCh37 |
23 | 95 |
There are 40 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767793.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024