ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q21.3(chr1:153321482-153835605)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 | |||
GATAD2B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
522 | 543 | |
CHTOP | - | - |
GRCh38 GRCh37 |
14 | 30 | |
ILF2 | - | - |
GRCh38 GRCh37 |
6 | 22 | |
INTS3 | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 39 | |
LOC101928034 | - | - | - |
GRCh38 GRCh37 |
- | 26 |
NPR1 | - | - |
GRCh38 GRCh37 |
36 | 63 | |
S100A1 | - | - |
GRCh38 GRCh37 |
- | 19 | |
S100A12 | - | - |
GRCh38 GRCh37 |
9 | 23 | |
S100A13 | - | - |
GRCh38 GRCh37 |
9 | 28 | |
S100A14 | - | - |
GRCh38 GRCh37 |
6 | 20 |
There are 12 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) |
|
Apr 7, 2017 | RCV000847221.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022