ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3
Germline
Classification
(1)
Likely 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 | |
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 | |
ADCY4 | - | - |
GRCh38 GRCh38 GRCh37 |
45 | 71 | |
AJUBA | - | - |
GRCh38 GRCh37 |
13 | 38 |
There are 521 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Aug 29, 2011 | RCV000137725.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023