ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)
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 | |||
ADCYAP1R1 | - | - |
GRCh38 GRCh37 |
22 | 53 | |
AQP1 | - | - |
GRCh38 GRCh37 |
46 | 76 | |
AVL9 | - | - |
GRCh38 GRCh37 |
33 | 55 | |
BBS9 | - | - |
GRCh38 GRCh37 |
1032 | 1067 | |
CBX3 | - | - |
GRCh38 GRCh37 |
3 | 36 | |
CHN2 | - | - |
GRCh38 GRCh37 |
25 | 62 | |
CPVL | - | - |
GRCh38 GRCh37 |
27 | 63 | |
CREB5 | - | - |
GRCh38 GRCh37 |
24 | 50 | |
CRHR2 | - | - |
GRCh38 GRCh37 |
25 | 62 | |
EVX1 | - | - |
GRCh38 GRCh37 |
- | 59 |
There are 47 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 |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV002280775.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023