ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q11.2(chr14:21496133-21962265)x3
Germline
Classification
(1)
Uncertain significance
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 | |
ARHGEF40 | - | - |
GRCh38 GRCh37 |
111 | 160 | |
HNRNPC | - | - |
GRCh38 GRCh37 |
14 | 64 | |
RAB2B | - | - |
GRCh38 GRCh37 |
8 | 49 | |
RNASE13 | - | - | - |
GRCh38 GRCh37 |
- | 49 |
RNASE7 | - | - |
GRCh38 GRCh37 |
- | 48 | |
RNASE8 | - | - |
GRCh38 GRCh37 |
- | 45 | |
RPGRIP1 | - | - |
GRCh38 GRCh37 |
1022 | 1075 |
There are 4 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 4, 2021 | RCV002475793.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022