ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ZFPM2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
66 | 358 | |
ABRA | - | - |
GRCh38 GRCh37 |
40 | 80 | |
ANGPT1 | - | - |
GRCh38 GRCh37 |
239 | 286 | |
CSMD3 | - | - |
GRCh38 GRCh37 |
256 | 305 | |
DCAF13 | - | - |
GRCh38 GRCh37 |
30 | 77 | |
DCSTAMP | - | - |
GRCh38 GRCh37 |
25 | 69 | |
DPYS | - | - |
GRCh38 GRCh37 |
189 | 234 | |
EBAG9 | - | - |
GRCh38 GRCh37 |
6 | 47 | |
EIF3E | - | - |
GRCh38 GRCh37 |
5 | 45 | |
EMC2 | - | - |
GRCh38 GRCh37 |
3 | 43 |
There are 12 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
May 4, 2018 | RCV000847013.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022