ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q31.1-31.2(chr2:173741558-178416381)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 | |||
HOXD13 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
127 | 159 | |
EVX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
48 | 78 | |
HOXD9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
28 | 59 | |
AGPS | - | - |
GRCh38 GRCh37 |
659 | 779 | |
ATF2 | - | - |
GRCh38 GRCh37 |
26 | 60 | |
ATP5MC3 | - | - |
GRCh38 GRCh37 |
18 | 52 | |
CDCA7 | - | - |
GRCh38 GRCh37 |
224 | 249 | |
CHN1 | - | - |
GRCh38 GRCh37 |
95 | 138 | |
CHRNA1 | - | - |
GRCh38 GRCh37 |
496 | 531 | |
CIR1 | - | - |
GRCh38 GRCh37 |
26 | 62 |
There are 21 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 3, 2018 | RCV000682153.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023