ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q31.1(chr2:174586724-176423918)x1
Germline
Classification
(1)
Likely 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 | |||
ATF2 | - | - |
GRCh38 GRCh37 |
26 | 60 | |
ATP5MC3 | - | - |
GRCh38 GRCh37 |
18 | 52 | |
CHN1 | - | - |
GRCh38 GRCh37 |
95 | 138 | |
CHRNA1 | - | - |
GRCh38 GRCh37 |
495 | 530 | |
CIR1 | - | - |
GRCh38 GRCh37 |
26 | 62 | |
GPR155 | - | - | - |
GRCh38 GRCh37 |
59 | 92 |
OLA1 | - | - |
GRCh38 GRCh37 |
24 | 58 | |
SCRN3 | - | - |
GRCh38 GRCh37 |
27 | 63 | |
SP3 | - | - |
GRCh38 GRCh37 |
46 | 79 | |
SP9 | - | - | - |
GRCh38 GRCh37 |
27 | 69 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Jan 20, 2016 | RCV000240261.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023