ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)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 | |||
ACSL1 | - | - |
GRCh38 GRCh37 |
35 | 147 | |
ANKRD37 | - | - |
GRCh38 GRCh37 |
- | 141 | |
CASP3 | - | - |
GRCh38 GRCh37 |
13 | 125 | |
CCDC110 | - | - |
GRCh38 GRCh37 |
39 | 178 | |
CDKN2AIP | - | - |
GRCh38 GRCh37 |
34 | 136 | |
CENPU | - | - |
GRCh38 GRCh37 |
30 | 149 | |
CFAP96 | - | - | - |
GRCh38 GRCh37 |
5 | 158 |
CFAP97 | - | - |
GRCh38 GRCh37 |
44 | 173 | |
CLDN22 | - | - | - |
GRCh38 GRCh37 |
- | 117 |
CLDN24 | - | - | - |
GRCh38 GRCh37 |
11 | 111 |
There are 29 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) |
|
Jun 23, 2014 | RCV000512153.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023