ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q11.2(chr14:21224511-21455608)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 |
1225 | 1321 | |
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 |
73 | 128 | |
HNRNPC | - | - |
GRCh38 GRCh37 |
12 | 59 | |
LOC121838586 | - | - | - | GRCh38 | - | 14 |
LOC126861887 | - | - | - | GRCh38 | - | 23 |
LOC126861888 | - | - | - | GRCh38 | - | 62 |
LOC130055282 | - | - | - | GRCh38 | - | 14 |
RPGRIP1 | - | - |
GRCh38 GRCh37 |
1012 | 1061 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051488.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023