ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1
Germline
Classification
(1)
Pathogenic
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 | |||
CAMK2B | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
720 | 749 | |
ADCY1 | - | - |
GRCh38 GRCh37 |
266 | 299 | |
CCDC201 | - | - | - | GRCh38 | - | 8 |
CCM2 | - | - |
GRCh38 GRCh37 |
310 | 363 | |
DDX56 | - | - |
GRCh38 GRCh37 |
46 | 76 | |
H2AZ2 | - | - |
GRCh38 GRCh37 |
- | 28 | |
H2AZ2-DT | - | - | - | GRCh38 | - | 11 |
IGFBP1 | - | - |
GRCh38 GRCh37 |
18 | 41 | |
IGFBP3 | - | - |
GRCh38 GRCh37 |
16 | 39 | |
LOC102723446 | - | - | - | GRCh38 | - | 8 |
There are 87 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052316.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023