ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q31.1(chr2:173713838-175467462)x3
Germline
Classification
(1)
conflicting data from submitters
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 | |||
ATF2 | - | - |
GRCh38 GRCh37 |
21 | 55 | |
ATP5MC3 | - | - |
GRCh38 GRCh37 |
18 | 52 | |
CHN1 | - | - |
GRCh38 GRCh37 |
94 | 136 | |
CHRNA1 | - | - |
GRCh38 GRCh37 |
488 | 523 | |
CIR1 | - | - |
GRCh38 GRCh37 |
23 | 59 | |
GPR155 | - | - | - |
GRCh38 GRCh37 |
49 | 82 |
GPR155-DT | - | - | - | GRCh38 | - | 14 |
LINC01305 | - | - | - | GRCh38 | - | 13 |
LINC01960 | - | - | - | GRCh38 | - | 12 |
LOC110120625 | - | - | - | GRCh38 | - | 12 |
There are 58 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
conflicting data from submitters (1) |
|
Jul 2, 2012 | RCV000138664.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024