ClinVar Genomic variation as it relates to human health
NC_000004.12:g.8398067_17505522inv
Germline
Classification
(1)
Pathogenic
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 | |||
CLNK | No evidence available | No evidence available |
GRCh38 GRCh37 |
34 | 109 | |
DRD5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 133 | |
ACOX3 | - | - |
GRCh38 GRCh37 |
83 | 165 | |
BOD1L1 | - | - |
GRCh38 GRCh37 |
197 | 261 | |
BST1 | - | - |
GRCh38 GRCh37 |
28 | 79 | |
C1QTNF7 | - | - | - |
GRCh38 GRCh37 |
18 | 71 |
C1QTNF7-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 37 |
CC2D2A | - | - |
GRCh38 GRCh37 |
2007 | 2061 | |
CD38 | - | - |
GRCh38 GRCh37 |
15 | 68 | |
CPEB2 | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 132 |
There are 185 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 20, 2019 | RCV000768549.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023