ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q34.3(chr9:139766260-140186072)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 |
315 | 409 | |
ANAPC2 | - | - |
GRCh38 GRCh37 |
35 | 105 | |
C8G | - | - |
GRCh38 GRCh37 |
28 | 89 | |
CLIC3 | - | - |
GRCh38 GRCh37 |
18 | 79 | |
CYSRT1 | - | - | - |
GRCh38 GRCh37 |
17 | 87 |
DPP7 | - | - |
GRCh38 GRCh37 |
38 | 115 | |
ENTPD2 | - | - |
GRCh38 GRCh37 |
52 | 114 | |
FAM166A | - | - | - |
GRCh38 GRCh37 |
- | 11 |
FBXW5 | - | - |
GRCh38 GRCh37 |
77 | 138 | |
FUT7 | - | - |
GRCh38 GRCh37 |
- | 95 |
There are 24 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 18, 2018 | RCV000848688.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022