ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q13.3(chr4:70204468-71204531)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 | |||
AMBN | - | - |
GRCh38 GRCh37 |
52 | 81 | |
AMTN | - | - |
GRCh38 GRCh37 |
17 | 45 | |
CABS1 | - | - |
GRCh38 GRCh37 |
22 | 54 | |
CSN3 | - | - |
GRCh38 GRCh37 |
14 | 44 | |
DCK | - | - |
GRCh38 GRCh37 |
3 | 32 | |
ENAM | - | - |
GRCh38 GRCh37 |
191 | 218 | |
FDCSP | - | - |
GRCh38 GRCh37 |
8 | 38 | |
GRSF1 | - | - |
GRCh38 GRCh37 |
33 | 63 | |
JCHAIN | - | - |
GRCh38 GRCh37 |
3 | 29 | |
LOC123477754 | - | - | - | GRCh38 | - | 10 |
There are 18 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
|
Uncertain significance (1) |
|
Sep 27, 2013 | RCV000143430.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024