ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1
Germline
Classification
(1)
Likely 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 | |||
CALM3 | - | - |
GRCh38 GRCh37 |
157 | 178 | |
CCDC61 | - | - |
GRCh38 GRCh37 |
- | 15 | |
CCDC8 | - | - |
GRCh38 GRCh37 |
189 | 199 | |
DACT3 | - | - |
GRCh38 GRCh37 |
41 | 64 | |
DACT3-AS1 | - | - | - | GRCh38 | - | 18 |
DM1-AS | - | - | - | GRCh38 | - | 338 |
DMPK | - | - |
GRCh38 GRCh37 |
58 | 295 | |
DMWD | - | - |
GRCh38 GRCh37 |
48 | 70 | |
EML2 | - | - |
GRCh38 GRCh37 |
51 | 68 | |
EML2-AS1 | - | - | - | GRCh38 | - | 6 |
There are 182 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
|
Likely pathogenic (1) |
|
Jan 13, 2012 | RCV000137832.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024