ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q21.3(chr1:153097950-153481118)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 | |||
LELP1 | - | - |
GRCh38 GRCh37 |
6 | 21 | |
LORICRIN | - | - |
GRCh38 GRCh37 |
81 | 99 | |
PGLYRP3 | - | - |
GRCh38 GRCh37 |
33 | 47 | |
PGLYRP4 | - | - |
GRCh38 GRCh37 |
19 | 36 | |
PRR9 | - | - | - |
GRCh38 GRCh37 |
5 | 20 |
S100A12 | - | - |
GRCh38 GRCh37 |
9 | 23 | |
S100A7 | - | - |
GRCh38 GRCh37 |
4 | 20 | |
S100A7A | - | - |
GRCh38 GRCh37 |
- | 25 | |
S100A8 | - | - |
GRCh38 GRCh37 |
1 | 28 | |
S100A9 | - | - |
GRCh38 GRCh37 |
10 | 24 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 11, 2022 | RCV003484039.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024