ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q21.3(chr1:151798754-152306536)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 | |||
FLG | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2 | 1254 | |
C2CD4D | - | - | - |
GRCh38 GRCh37 |
7 | 37 |
HRNR | - | - |
GRCh38 GRCh37 |
- | 47 | |
RORC | - | - |
GRCh38 GRCh37 |
278 | 290 | |
RPTN | - | - |
GRCh38 GRCh37 |
50 | 65 | |
S100A10 | - | - |
GRCh38 GRCh37 |
1 | 15 | |
S100A11 | - | - |
GRCh38 GRCh37 |
5 | 20 | |
TCHH | - | - |
GRCh38 GRCh37 |
203 | 218 | |
TCHHL1 | - | - | - |
GRCh38 GRCh37 |
47 | 62 |
THEM4 | - | - |
GRCh38 GRCh37 |
14 | 32 |
There is 1 more gene 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) |
|
Jun 4, 2019 | RCV001005138.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022