ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q33-35(chr7:135414108-144140219)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 | |||
BRAF | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1230 | 1339 | |
UBN2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
83 | 141 | |
PRSS1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
2 | 793 | |
ADCK2 | - | - | - |
GRCh38 GRCh37 |
43 | 87 |
AGK | - | - |
GRCh38 GRCh38 GRCh37 |
346 | 394 | |
AGK-DT | - | - | - | GRCh38 | - | 23 |
AKR1D1 | - | - |
GRCh38 GRCh37 |
199 | 246 | |
ATP6V0A4 | - | - |
GRCh38 GRCh37 |
402 | 470 | |
CASP2 | - | - |
GRCh38 GRCh37 |
34 | 85 | |
CHRM2 | - | - |
GRCh38 GRCh37 |
12 | 231 |
There are 365 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) |
|
Aug 12, 2011 | RCV000054173.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023