ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.3(chr19:2926238-4051635)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 | |||
APBA3 | - | - |
GRCh38 GRCh37 |
76 | 101 | |
ATCAY | - | - |
GRCh38 GRCh37 |
196 | 226 | |
CACTIN | - | - |
GRCh38 GRCh37 |
21 | 57 | |
CACTIN-AS1 | - | - | - | GRCh38 | - | 22 |
CELF5 | - | - |
GRCh38 GRCh37 |
14 | 41 | |
DAPK3 | - | - |
GRCh38 GRCh37 |
30 | 59 | |
DOHH | - | - |
GRCh38 GRCh37 |
37 | 63 | |
EEF2 | - | - |
GRCh38 GRCh37 |
373 | 430 | |
FZR1 | - | - |
GRCh38 GRCh37 |
31 | 57 | |
GIPC3 | - | - |
GRCh38 GRCh37 |
191 | 218 |
There are 113 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 | RCV000053942.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023