ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)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 |
2281 | 2326 | |
GIGYF2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
135 | 398 | |
HDAC4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
497 | 605 | |
KIF1A | No evidence available | No evidence available |
GRCh38 GRCh37 |
2855 | 3061 | |
SPP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
183 | 230 | |
ACKR3 | - | - |
GRCh38 GRCh37 |
21 | 104 | |
AGAP1 | - | - |
GRCh38 GRCh37 |
260 | 350 | |
AGAP1-IT1 | - | - | - | GRCh38 | - | 23 |
AGXT | - | - |
GRCh38 GRCh37 |
899 | 1017 | |
ALPG | - | - |
GRCh38 GRCh37 |
29 | 101 |
There are 447 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
May 27, 2010 | RCV000050304.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024