ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1
Germline
Classification
(1)
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 |
102 | 118 | |
ADGRL4 | - | - |
GRCh38 GRCh37 |
47 | 66 | |
AK5 | - | - |
GRCh38 GRCh37 |
39 | 60 | |
BCL10 | - | - |
GRCh38 GRCh37 |
93 | 126 | |
BCL10-AS1 | - | - | - | GRCh38 | - | 3 |
C1orf52 | - | - | - |
GRCh38 GRCh37 |
- | 15 |
CCN1 | - | - |
GRCh38 GRCh37 |
27 | 49 | |
CLCA1 | - | - |
GRCh38 GRCh37 |
52 | 64 | |
CLCA2 | - | - |
GRCh38 GRCh37 |
79 | 94 | |
CLCA4 | - | - |
GRCh38 GRCh37 |
33 | 80 |
There are 233 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
|
Pathogenic (1) |
|
Oct 10, 2011 | RCV000138957.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024