ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q37.3(chr2:241997911-242783384)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 | |||
ANO7 | - | - |
GRCh38 GRCh37 |
189 | 346 | |
ATG4B | - | - |
GRCh38 GRCh37 |
38 | 159 | |
BOK | - | - |
GRCh38 GRCh37 |
18 | 142 | |
D2HGDH | - | - |
GRCh38 GRCh37 |
325 | 502 | |
DTYMK | - | - |
GRCh38 GRCh37 |
22 | 146 | |
FARP2 | - | - |
GRCh38 GRCh37 |
115 | 246 | |
GAL3ST2 | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 160 | |
HDLBP | - | - |
GRCh38 GRCh37 |
47 | 206 | |
ING5 | - | - |
GRCh38 GRCh37 |
13 | 134 | |
MTERF4 | - | - |
GRCh38 GRCh37 |
23 | 219 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Feb 1, 2016 | RCV000512463.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024