ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p22.3-22.2(chr1:86228890-88466303)x1
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 | |||
CLCA1 | - | - |
GRCh38 GRCh37 |
47 | 59 | |
CLCA2 | - | - |
GRCh38 GRCh37 |
72 | 87 | |
CLCA4 | - | - |
GRCh38 GRCh37 |
29 | 67 | |
CLCA4-AS1 | - | - | - | GRCh38 | - | 29 |
HS2ST1 | - | - |
GRCh38 GRCh37 |
32 | 44 | |
LINC01140 | - | - | - | GRCh38 | 1 | 4 |
LINC01364 | - | - | - | GRCh38 | - | 3 |
LINC02795 | - | - | - | GRCh38 | - | 3 |
LINC02801 | - | - | - | GRCh38 | - | 3 |
LMO4 | - | - |
GRCh38 GRCh37 |
6 | 18 |
There are 39 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) |
|
Oct 24, 2012 | RCV000138370.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024