ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)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 | |||
ADCYAP1R1 | - | - |
GRCh38 GRCh37 |
13 | 44 | |
AQP1 | - | - |
GRCh38 GRCh37 |
44 | 74 | |
AVL9 | - | - |
GRCh38 GRCh37 |
23 | 45 | |
BBS9 | - | - |
GRCh38 GRCh37 |
1030 | 1065 | |
BMPER | - | - |
GRCh38 GRCh37 |
326 | 351 | |
CHN2 | - | - |
GRCh38 GRCh37 |
23 | 60 | |
CPVL | - | - |
GRCh38 GRCh37 |
18 | 53 | |
CREB5 | - | - |
GRCh38 GRCh37 |
15 | 41 | |
CRHR2 | - | - |
GRCh38 GRCh37 |
20 | 57 | |
EVX1 | - | - |
GRCh38 GRCh37 |
- | 50 |
There are 42 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) |
|
Oct 27, 2021 | RCV002475752.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023