ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1
Germline
Classification
(1)
Pathogenic
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 | |||
DIS3L2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2288 | 2333 | |
GIGYF2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
156 | 422 | |
HDAC4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
558 | 668 | |
KIF1A | No evidence available | No evidence available |
GRCh38 GRCh37 |
2914 | 3124 | |
SPP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
183 | 230 | |
ACKR3 | - | - |
GRCh38 GRCh37 |
24 | 109 | |
AGAP1 | - | - |
GRCh38 GRCh37 |
276 | 368 | |
AGAP1-IT1 | - | - | - | GRCh38 | - | 23 |
AGXT | - | - |
GRCh38 GRCh37 |
914 | 1035 | |
ALPG | - | - |
GRCh38 GRCh37 |
37 | 117 |
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) |
|
Aug 12, 2011 | RCV000148260.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024