ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1
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 | |||
ABCB11 | - | - |
GRCh38 GRCh38 GRCh37 |
1438 | 1537 | |
BBS5 | - | - |
GRCh38 GRCh37 |
328 | 384 | |
CFAP210 | - | - | - |
GRCh38 GRCh37 |
14 | 32 |
DHRS9 | - | - |
GRCh38 GRCh37 |
18 | 36 | |
FASTKD1 | - | - |
GRCh38 GRCh37 |
36 | 55 | |
G6PC2 | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 33 | |
KLHL23 | - | - | - |
GRCh38 GRCh37 |
- | 30 |
KLHL41 | - | - |
GRCh38 GRCh37 |
289 | 310 | |
LOC120977014 | - | - | - | GRCh38 | - | 5 |
LOC122847310 | - | - | - | GRCh38 | - | 5 |
There are 25 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 24, 2012 | RCV000139461.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023