ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)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 | |||
PRDM6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
42 | 96 | |
AP3S1 | - | - |
GRCh38 GRCh37 |
2 | 30 | |
ARL14EPL | - | - | - |
GRCh38 GRCh37 |
17 | 44 |
ATG12 | - | - |
GRCh38 GRCh37 |
3 | 30 | |
CCDC112 | - | - | - |
GRCh38 GRCh37 |
36 | 63 |
CDO1 | - | - |
GRCh38 GRCh37 |
10 | 37 | |
CEP120 | - | - |
GRCh38 GRCh37 |
480 | 507 | |
COMMD10 | - | - |
GRCh38 GRCh37 |
12 | 40 | |
CSNK1G3 | - | - |
GRCh38 GRCh37 |
19 | 46 | |
DMXL1 | - | - |
GRCh38 GRCh37 |
251 | 280 |
There are 220 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 13, 2010 | RCV000134895.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024