ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q34.3(chr9:139776707-140234193)x3
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 | |||
ABCA2 | - | - |
GRCh38 GRCh37 |
356 | 478 | |
ANAPC2 | - | - |
GRCh38 GRCh37 |
38 | 138 | |
C8G | - | - |
GRCh38 GRCh37 |
32 | 119 | |
CLIC3 | - | - |
GRCh38 GRCh37 |
19 | 107 | |
CYSRT1 | - | - | - |
GRCh38 GRCh37 |
19 | 118 |
DPP7 | - | - |
GRCh38 GRCh37 |
45 | 155 | |
ENTPD2 | - | - |
GRCh38 GRCh37 |
58 | 147 | |
EXD3 | - | - | - |
GRCh38 GRCh37 |
114 | 221 |
FAM166A | - | - | - |
GRCh38 GRCh37 |
- | 4 |
FBXW5 | - | - |
GRCh38 GRCh37 |
89 | 176 |
There are 26 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) |
|
Dec 30, 2019 | RCV001259536.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022