ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1
Germline
Classification
(2)
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 | |||
IMPA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
21 | 62 | |
CA1 | - | - |
GRCh38 GRCh37 |
17 | 55 | |
CA13 | - | - |
GRCh38 GRCh37 |
11 | 50 | |
CA2 | - | - |
GRCh38 GRCh37 |
149 | 203 | |
CA3 | - | - |
GRCh38 GRCh37 |
2 | 46 | |
CHMP4C | - | - |
GRCh38 GRCh37 |
10 | 52 | |
CRISPLD1 | - | - | - |
GRCh38 GRCh37 |
23 | 54 |
E2F5 | - | - |
GRCh38 GRCh37 |
9 | 54 | |
FABP12 | - | - |
GRCh38 GRCh37 |
11 | 53 | |
FABP4 | - | - |
GRCh38 GRCh37 |
4 | 49 |
There are 23 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) |
|
Feb 2, 2022 | RCV002279750.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 03, 2022