ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1
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 | |||
ACSL6 | - | - |
GRCh38 GRCh37 |
20 | 38 | |
ACSL6-AS1 | - | - | - | GRCh38 | - | 7 |
AFF4 | - | - |
GRCh38 GRCh37 |
461 | 478 | |
AFF4-DT | - | - | - | GRCh38 | - | 5 |
C5orf15 | - | - | - |
GRCh38 GRCh37 |
4 | 23 |
C5orf24 | - | - | - |
GRCh38 GRCh37 |
- | 18 |
CAMLG | - | - |
GRCh38 GRCh37 |
13 | 32 | |
CATSPER3 | - | - |
GRCh38 GRCh37 |
19 | 37 | |
CCNI2 | - | - |
GRCh38 GRCh37 |
5 | 35 | |
CDKL3 | - | - |
GRCh38 GRCh37 |
24 | 43 |
There are 255 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 30, 2009 | RCV000135442.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023