ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)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 |
1206 | 1304 | |
FOXG1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
779 | 806 | |
PAX9 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
167 | 220 | |
MYH7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3417 | 4600 | |
OR5AU1 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
17 | 59 |
SNORD8 | No evidence available | No evidence available | GRCh38 | - | 15 | |
SNORD9 | - | No evidence available | No evidence available | GRCh38 | - | 16 |
SUPT16H | No evidence available | No evidence available |
GRCh38 GRCh37 |
70 | 127 | |
ABHD4 | - | - |
GRCh38 GRCh37 |
8 | 36 | |
ACIN1 | - | - |
GRCh38 GRCh37 |
49 | 83 |
There are 806 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 9, 2013 | RCV000143186.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023