ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q37.1(chr2:233055165-233763272)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 | |||
DIS3L2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2268 | 2312 | |
GIGYF2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
135 | 398 | |
ALPG | - | - |
GRCh38 GRCh37 |
29 | 100 | |
ALPI | - | - |
GRCh38 GRCh37 |
59 | 98 | |
ALPP | - | - |
GRCh38 GRCh37 |
65 | 104 | |
CHRND | - | - |
GRCh38 GRCh37 |
530 | 575 | |
CHRNG | - | - |
GRCh38 GRCh37 |
332 | 528 | |
ECEL1 | - | - |
GRCh38 GRCh37 |
203 | 244 | |
EFHD1 | - | - |
GRCh38 GRCh37 |
8 | 51 | |
EIF4E2 | - | - |
GRCh38 GRCh37 |
11 | 51 |
There are 5 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) |
|
- | RCV000447269.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024