ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.12(chr1:21999190-22063093)
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 | |||
CDC42 | - | - |
GRCh38 GRCh37 |
102 | 121 | |
CELA3A | - | - |
GRCh38 GRCh37 |
25 | 41 | |
LINC00339 | - | - | - | GRCh38 | - | 5 |
LINC01635 | - | - | - | GRCh38 | - | 5 |
LOC120893122 | - | - | - | GRCh38 | - | 5 |
LOC129929630 | - | - | - | GRCh38 | - | 5 |
LOC129929631 | - | - | - | GRCh38 | - | 5 |
LOC129929632 | - | - | - | GRCh38 | - | 5 |
LOC129929633 | - | - | - | GRCh38 | - | 5 |
LOC129929634 | - | - | - | GRCh38 | - | 4 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 23, 2023 | RCV003448618.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 17, 2023