ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q21.3(chr7:94813388-96264152)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 | |||
PPP1R9A | No evidence available | No evidence available |
GRCh38 GRCh37 |
75 | 117 | |
ASB4 | - | - |
GRCh38 GRCh37 |
27 | 45 | |
C7orf76 | - | - | - |
GRCh38 GRCh37 |
- | 20 |
DYNC1I1 | - | - |
GRCh38 GRCh37 |
83 | 108 | |
PDK4 | - | - |
GRCh38 GRCh37 |
22 | 40 | |
PON1 | - | - |
GRCh38 GRCh37 |
48 | 68 | |
PON2 | - | - |
GRCh38 GRCh37 |
56 | 73 | |
PON3 | - | - |
GRCh38 GRCh37 |
48 | 65 | |
SLC25A13 | - | - |
GRCh38 GRCh37 |
821 | 864 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 22, 2022 | RCV003482969.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024