ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)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 | |||
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 | |
HDAC4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
494 | 600 | |
KIF1A | No evidence available | No evidence available |
GRCh38 GRCh37 |
2849 | 3052 | |
SPP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
182 | 227 | |
ACKR3 | - | - |
GRCh38 GRCh37 |
21 | 102 | |
AGAP1 | - | - |
GRCh38 GRCh37 |
256 | 345 | |
AGXT | - | - |
GRCh38 GRCh37 |
896 | 1011 | |
ALPG | - | - |
GRCh38 GRCh37 |
29 | 100 | |
ALPI | - | - |
GRCh38 GRCh37 |
59 | 98 |
There are 89 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) |
|
- | RCV001263221.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023