ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q32.1-33(chr7:129147455-132777678)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
CPA4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
30 | 56 | |
KLF14 | No evidence available | No evidence available |
GRCh38 GRCh37 |
28 | 60 | |
MEST | No evidence available | No evidence available |
GRCh38 GRCh37 |
14 | 44 | |
CEP41 | - | - |
GRCh38 GRCh37 |
430 | 459 | |
CHCHD3 | - | - |
GRCh38 GRCh37 |
10 | 48 | |
COPG2 | - | - |
GRCh38 GRCh37 |
9 | 39 | |
CPA1 | - | - |
GRCh38 GRCh37 |
814 | 842 | |
CPA2 | - | - |
GRCh38 GRCh37 |
33 | 59 | |
CPA5 | - | - |
GRCh38 GRCh37 |
34 | 61 | |
KLHDC10 | - | - |
GRCh38 GRCh37 |
8 | 35 |
There are 17 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
May 26, 2022 | RCV002473525.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022