ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3
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 | |||
PRSS1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
2 | 793 | |
AGK | - | - |
GRCh38 GRCh38 GRCh37 |
346 | 394 | |
AGK-DT | - | - | - | GRCh38 | - | 23 |
ARHGEF35 | - | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 92 |
ARHGEF35-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 52 |
ARHGEF5 | - | - |
GRCh38 GRCh38 GRCh37 |
45 | 100 | |
CASP2 | - | - |
GRCh38 GRCh37 |
34 | 85 | |
CLCN1 | - | - |
GRCh38 GRCh37 |
1368 | 1516 | |
CLEC5A | - | - |
GRCh38 GRCh37 |
10 | 55 | |
CTAGE15 | - | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 68 |
There are 184 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 18, 2013 | RCV000133645.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024