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 |
1242 | 1342 | |
FOXG1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
794 | 819 | |
HNRNPC | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
14 | 64 | |
MYH7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3622 | 4890 | |
OR5AU1 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
23 | 62 |
SUPT16H | No evidence available | No evidence available |
GRCh38 GRCh37 |
81 | 141 | |
ABHD4 | - | - |
GRCh38 GRCh37 |
21 | 46 | |
ACIN1 | - | - |
GRCh38 GRCh37 |
77 | 110 | |
ADCY4 | - | - |
GRCh38 GRCh38 GRCh37 |
67 | 92 | |
AJUBA | - | - |
GRCh38 GRCh37 |
28 | 50 |
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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV000448273.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024