ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p21.2-21.1(chr7:16279316-18429845)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 | |||
AGR2 | - | - |
GRCh38 GRCh37 |
17 | 64 | |
AGR3 | - | - |
GRCh38 GRCh37 |
10 | 62 | |
AHR | - | - |
GRCh38 GRCh37 |
435 | 499 | |
ANKMY2 | - | - | - |
GRCh38 GRCh37 |
25 | 70 |
BZW2 | - | - |
GRCh38 GRCh37 |
14 | 60 | |
CRPPA | - | - |
GRCh38 GRCh37 |
512 | 763 | |
HDAC9 | - | - |
GRCh38 GRCh37 |
57 | 111 | |
LRRC72 | - | - | - |
GRCh38 GRCh37 |
20 | 65 |
PRPS1L1 | - | - |
GRCh38 GRCh37 |
22 | 66 | |
SNX13 | - | - |
GRCh38 GRCh37 |
58 | 111 |
There are 2 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) |
|
Jul 12, 2019 | RCV001259423.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022