ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q11.2(chr14:21678344-22299981)x3
Germline
Classification
(1)
Uncertain significance
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 |
1225 | 1321 | |
SUPT16H | No evidence available | No evidence available |
GRCh38 GRCh37 |
73 | 128 | |
HNRNPC | - | - |
GRCh38 GRCh37 |
12 | 59 | |
METTL3 | - | - |
GRCh38 GRCh37 |
13 | 50 | |
OR10G2 | - | - | - |
GRCh38 GRCh37 |
- | 55 |
OR10G3 | - | - | - |
GRCh38 GRCh37 |
21 | 51 |
OR4E2 | - | - | - |
GRCh38 GRCh37 |
- | 51 |
RAB2B | - | - |
GRCh38 GRCh37 |
7 | 47 | |
RPGRIP1 | - | - |
GRCh38 GRCh37 |
1012 | 1061 | |
SALL2 | - | - |
GRCh38 GRCh37 |
108 | 143 |
There are 2 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) |
|
Dec 14, 2017 | RCV000850005.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022