ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q37.3(chr2:242580355-242783384)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 | |||
ATG4B | - | - |
GRCh38 GRCh37 |
34 | 154 | |
D2HGDH | - | - |
GRCh38 GRCh37 |
324 | 499 | |
DTYMK | - | - |
GRCh38 GRCh37 |
22 | 145 | |
GAL3ST2 | - | - |
GRCh38 GRCh38 GRCh37 |
25 | 153 | |
ING5 | - | - |
GRCh38 GRCh37 |
12 | 132 | |
NEU4 | - | - |
GRCh38 GRCh38 GRCh37 |
56 | 174 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 1, 2021 | RCV001827824.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 17, 2022