ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q37.1-37.3(chr2:233642145-237654870)x1
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
GIGYF2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
135 | 398 | |
SPP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
183 | 230 | |
ACKR3 | - | - |
GRCh38 GRCh37 |
21 | 104 | |
AGAP1 | - | - |
GRCh38 GRCh37 |
260 | 350 | |
ARL4C | - | - |
GRCh38 GRCh37 |
5 | 51 | |
ASB18 | - | - | - |
GRCh38 GRCh37 |
28 | 106 |
ATG16L1 | - | - |
GRCh38 GRCh38 GRCh37 |
30 | 72 | |
DGKD | - | - |
GRCh38 GRCh38 GRCh37 |
81 | 134 | |
DNAJB3 | - | - | - |
GRCh38 GRCh37 |
- | 47 |
GBX2 | - | - |
GRCh38 GRCh37 |
7 | 87 |
There are 19 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) |
|
Dec 10, 2021 | RCV002472410.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022