ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q31.1(chr5:132816203-135383158)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 | |||
AFF4 | - | - |
GRCh38 GRCh37 |
478 | 496 | |
AFF4-DT | - | - | - | GRCh38 | - | 5 |
C5orf15 | - | - | - |
GRCh38 GRCh37 |
5 | 25 |
C5orf24 | - | - | - |
GRCh38 GRCh37 |
- | 20 |
CAMLG | - | - |
GRCh38 GRCh37 |
14 | 35 | |
CATSPER3 | - | - |
GRCh38 GRCh37 |
30 | 50 | |
CDKL3 | - | - |
GRCh38 GRCh37 |
38 | 59 | |
CDKN2AIPNL | - | - | - |
GRCh38 GRCh37 |
6 | 27 |
DDX46 | - | - |
GRCh38 GRCh37 |
13 | 34 | |
EPIST | - | - | - | GRCh38 | - | 7 |
There are 139 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052113.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024