ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)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 | |||
CHD8 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1210 | 1305 | |
FOXG1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
781 | 806 | |
MYH7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3578 | 4827 | |
OR5AU1 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
17 | 55 |
SUPT16H | No evidence available | No evidence available |
GRCh38 GRCh37 |
71 | 125 | |
ABHD4 | - | - |
GRCh38 GRCh37 |
8 | 33 | |
ACIN1 | - | - |
GRCh38 GRCh37 |
49 | 80 | |
ADCY4 | - | - |
GRCh38 GRCh38 GRCh37 |
45 | 68 | |
AJUBA | - | - |
GRCh38 GRCh37 |
13 | 35 | |
AKAP6 | - | - |
GRCh38 GRCh37 |
111 | 134 |
There are 156 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 |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV000448273.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023