ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q37.1-37.3(chr2:234090049-239494702)x1
Germline
Classification
(1)
Pathogenic
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 | |||
SPP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
182 | 227 | |
ACKR3 | - | - |
GRCh38 GRCh37 |
21 | 103 | |
AGAP1 | - | - |
GRCh38 GRCh37 |
256 | 346 | |
ARL4C | - | - |
GRCh38 GRCh37 |
5 | 51 | |
ASB1 | - | - |
GRCh38 GRCh37 |
15 | 99 | |
ASB18 | - | - | - |
GRCh38 GRCh37 |
28 | 106 |
ATG16L1 | - | - |
GRCh38 GRCh38 GRCh37 |
30 | 72 | |
COL6A3 | - | - |
GRCh38 GRCh37 |
3208 | 3407 | |
COPS8 | - | - |
GRCh38 GRCh37 |
13 | 87 | |
DGKD | - | - |
GRCh38 GRCh38 GRCh37 |
81 | 134 |
There are 33 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 4, 2019 | RCV001007520.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022