ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q31.1(chr2:172366752-176361187)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 | |||
HOXD13 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
116 | 148 | |
EVX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
33 | 62 | |
HOXD9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
21 | 52 | |
ATF2 | - | - |
GRCh38 GRCh37 |
20 | 54 | |
ATP5MC3 | - | - |
GRCh38 GRCh37 |
11 | 45 | |
CDCA7 | - | - |
GRCh38 GRCh37 |
219 | 243 | |
CHN1 | - | - |
GRCh38 GRCh37 |
90 | 132 | |
CHRNA1 | - | - |
GRCh38 GRCh37 |
486 | 521 | |
CIR1 | - | - |
GRCh38 GRCh37 |
15 | 51 | |
GPR155 | - | - | - |
GRCh38 GRCh37 |
42 | 75 |
There are 128 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052554.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023