ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)
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 |
1224 | 1320 | |
FOXG1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
782 | 807 | |
PAX9 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
167 | 218 | |
MYH7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3598 | 4854 | |
OR5AU1 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
19 | 57 |
SUPT16H | No evidence available | No evidence available |
GRCh38 GRCh37 |
72 | 127 | |
ABHD4 | - | - |
GRCh38 GRCh37 |
17 | 42 | |
ACIN1 | - | - |
GRCh38 GRCh37 |
63 | 95 | |
ADCY4 | - | - |
GRCh38 GRCh38 GRCh37 |
59 | 82 | |
AJUBA | - | - |
GRCh38 GRCh37 |
22 | 44 |
There are 189 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) |
|
- | RCV002280625.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023