ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q34.3(chr9:139563039-140310033)
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 | |||
ABCA2 | - | - |
GRCh38 GRCh37 |
354 | 475 | |
AGPAT2 | - | - |
GRCh38 GRCh37 |
197 | 278 | |
AJM1 | - | - | - |
GRCh38 GRCh37 |
- | 83 |
ANAPC2 | - | - |
GRCh38 GRCh37 |
38 | 138 | |
C8G | - | - |
GRCh38 GRCh37 |
32 | 119 | |
CCDC183 | - | - |
GRCh38 GRCh37 |
13 | 133 | |
CLIC3 | - | - |
GRCh38 GRCh37 |
19 | 107 | |
CYSRT1 | - | - | - |
GRCh38 GRCh37 |
19 | 118 |
DIPK1B | - | - |
GRCh38 GRCh37 |
45 | 127 | |
DPP7 | - | - |
GRCh38 GRCh37 |
45 | 155 |
There are 42 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) |
|
Mar 1, 2022 | RCV002052853.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022