ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q33-35(chr7:133848099-145814115)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 | |
CNTNAP2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1819 | 1979 | |
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 |
AGBL3 | - | - |
GRCh38 GRCh37 |
44 | 90 | |
AGK | - | - |
GRCh38 GRCh38 GRCh37 |
346 | 394 | |
AKR1B1 | - | - |
GRCh38 GRCh37 |
14 | 53 | |
AKR1B10 | - | - |
GRCh38 GRCh37 |
19 | 53 | |
AKR1B15 | - | - |
GRCh38 GRCh37 |
22 | 56 |
There are 97 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 23, 2021 | RCV001801200.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 13, 2023