ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q21.13-21.2(chr8:81829690-85173253)x3
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 |
29 | 72 | |
CHMP4C | - | - |
GRCh38 GRCh37 |
15 | 59 | |
FABP12 | - | - |
GRCh38 GRCh37 |
17 | 60 | |
FABP4 | - | - |
GRCh38 GRCh37 |
7 | 53 | |
FABP5 | - | - |
GRCh38 GRCh37 |
8 | 51 | |
FABP9 | - | - | - |
GRCh38 GRCh37 |
14 | 59 |
PAG1 | - | - |
GRCh38 GRCh37 |
14 | 53 | |
PMP2 | - | - |
GRCh38 GRCh37 |
105 | 150 | |
RALYL | - | - |
GRCh38 GRCh37 |
26 | 67 | |
SLC10A5 | - | - |
GRCh38 GRCh37 |
36 | 79 |
There are 2 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) |
|
Jun 25, 2020 | RCV001827963.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022