ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p35.1-34.3(chr1:33564892-34725930)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 | |||
C1orf94 | - | - | - |
GRCh38 GRCh37 |
7 | 16 |
CSMD2 | - | - |
GRCh38 GRCh37 |
221 | 255 | |
CSMD2-AS1 | - | - | - | GRCh38 | - | 5 |
HMGB4 | - | - |
GRCh38 GRCh37 |
- | 23 | |
LOC122056834 | - | - | - | GRCh38 | - | 3 |
LOC126805691 | - | - | - | GRCh38 | - | 16 |
LOC126805692 | - | - | - | GRCh38 | - | 3 |
LOC126805693 | - | - | - | GRCh38 | - | 3 |
LOC129930082 | - | - | - | GRCh38 | - | 3 |
LOC129930083 | - | - | - | GRCh38 | - | 3 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000050908.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024