ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3
Germline
Classification
(1)
Likely pathogenic
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 | |||
ADGRL2 | - | - |
GRCh38 GRCh37 |
77 | 93 | |
BCL10 | - | - |
GRCh38 GRCh37 |
92 | 125 | |
C1orf52 | - | - | - |
GRCh38 GRCh37 |
- | 15 |
CCN1 | - | - |
GRCh38 GRCh37 |
22 | 42 | |
CLCA1 | - | - |
GRCh38 GRCh37 |
36 | 48 | |
CLCA2 | - | - |
GRCh38 GRCh37 |
54 | 69 | |
CLCA4 | - | - |
GRCh38 GRCh37 |
23 | 53 | |
COL24A1 | - | - |
GRCh38 GRCh37 |
69 | 89 | |
CTBS | - | - |
GRCh38 GRCh37 |
15 | 41 | |
DDAH1 | - | - |
GRCh38 GRCh37 |
7 | 29 |
There are 25 more genes 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 21, 2019 | RCV001259073.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022