ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |
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 | |
ANG | - | - |
GRCh38 GRCh37 |
8 | 125 | |
APEX1 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 50 | |
ARHGEF40 | - | - |
GRCh38 GRCh37 |
111 | 160 | |
CCNB1IP1 | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 27 | |
DAD1 | - | - |
GRCh38 GRCh37 |
14 | 40 | |
EDDM3A | - | - |
GRCh38 GRCh37 |
16 | 45 |
There are 44 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) |
|
Feb 11, 2022 | RCV002474574.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023