ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q11.2(chr14:21725624-22003017)x1
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 |
1228 | 1324 | |
SUPT16H | No evidence available | No evidence available |
GRCh38 GRCh37 |
73 | 129 | |
HNRNPC | - | - |
GRCh38 GRCh37 |
12 | 59 | |
METTL3 | - | - |
GRCh38 GRCh37 |
13 | 50 | |
RAB2B | - | - |
GRCh38 GRCh37 |
7 | 47 | |
RPGRIP1 | - | - |
GRCh38 GRCh37 |
1012 | 1061 | |
SALL2 | - | - |
GRCh38 GRCh37 |
108 | 143 | |
TOX4 | - | - |
GRCh38 GRCh37 |
32 | 73 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 20, 2018 | RCV001006609.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022