ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3
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 | |||
CEBPA | No evidence available | No evidence available |
GRCh38 GRCh37 |
939 | 1009 | |
SCN1B | No evidence available | No evidence available |
GRCh38 GRCh37 |
573 | 594 | |
ANKRD27 | - | - |
GRCh38 GRCh37 |
75 | 91 | |
ATP4A | - | - |
GRCh38 GRCh37 |
140 | 159 | |
CD22 | - | - |
GRCh38 GRCh37 |
57 | 82 | |
CEBPG | - | - |
GRCh38 GRCh37 |
9 | 27 | |
CEP89 | - | - |
GRCh38 GRCh37 |
234 | 255 | |
CHST8 | - | - |
GRCh38 GRCh37 |
40 | 57 | |
DMKN | - | - |
GRCh38 GRCh37 |
7 | 26 | |
DPY19L3 | - | - |
GRCh38 GRCh37 |
40 | 58 |
There are 50 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV000448231.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024