ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q22.33-23.2(chr6:129969121-132499298)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
AKAP7 | - | - |
GRCh38 GRCh37 |
16 | 35 | |
ARG1 | - | - |
GRCh38 GRCh37 |
40 | 554 | |
ARHGAP18 | - | - |
GRCh38 GRCh37 |
42 | 65 | |
CCN2 | - | - |
GRCh38 GRCh37 |
- | 56 | |
CTAGE9 | - | - | - |
GRCh38 GRCh37 |
- | 90 |
ENPP1 | - | - |
GRCh38 GRCh37 |
693 | 719 | |
ENPP3 | - | - |
GRCh38 GRCh37 |
60 | 164 | |
EPB41L2 | - | - |
GRCh38 GRCh37 |
68 | 91 | |
L3MBTL3 | - | - |
GRCh38 GRCh37 |
48 | 65 | |
MED23 | - | - |
GRCh38 GRCh37 |
181 | 695 |
There are 5 more genes 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 10, 2017 | RCV004577479.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024