ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q37.3(chr2:241522479-242126245)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 | |||
ATG4B | - | - |
GRCh38 GRCh37 |
38 | 159 | |
BOK | - | - |
GRCh38 GRCh37 |
18 | 142 | |
BOK-AS1 | - | - | - | GRCh38 | - | 47 |
D2HGDH | - | - |
GRCh38 GRCh37 |
327 | 504 | |
DTYMK | - | - |
GRCh38 GRCh37 |
22 | 146 | |
FAM240C | - | - | - |
GRCh38 GRCh38 |
- | 44 |
GAL3ST2 | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 160 | |
ING5 | - | - |
GRCh38 GRCh37 |
13 | 134 | |
LINC01237 | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 |
2 | 92 |
LINC01238 | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 69 |
There are 31 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Dec 30, 2009 | RCV000133843.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024