ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
AK6 | - | - |
GRCh38 GRCh38 GRCh38 |
- | 12 | |
CCDC125 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 42 | |
CCNB1 | - | - |
GRCh38 GRCh37 |
16 | 32 | |
CD180 | - | - |
GRCh38 GRCh37 |
51 | 70 | |
CDK7 | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 24 | |
CENPH | - | - |
GRCh38 GRCh37 |
13 | 30 | |
ERBIN | - | - |
GRCh38 GRCh37 |
730 | 750 | |
GTF2H2 | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 57 | |
GTF2H2C | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 20 |
KGD4 | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 17 |
There are 93 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 14, 2012 | RCV000142796.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024