ClinVar Genomic variation as it relates to human health
NC_000007.13:g.(?_91570394)_(92085896_?)dup
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 | |||
AKAP9 | - | - |
GRCh38 GRCh37 |
2763 | 2857 | |
ANKIB1 | - | - |
GRCh38 GRCh37 |
51 | 73 | |
CYP51A1 | - | - |
GRCh38 GRCh37 |
74 | 94 | |
CYP51A1-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 63 |
GATAD1 | - | - |
GRCh38 GRCh37 |
130 | 751 | |
KRIT1 | - | - |
GRCh38 GRCh37 |
650 | 680 | |
LOC113748416 | - | - | - | GRCh38 | - | 17 |
LOC121175350 | - | - | - | GRCh38 | - | 39 |
LOC126860104 | - | - | - | GRCh38 | - | 3 |
LOC129389824 | - | - | - | GRCh38 | - | 4 |
There are 11 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 7, 2017 | RCV000631877.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024