ClinVar Genomic variation as it relates to human health
NC_000019.9:g.(?_5691310)_(8008536_?)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 | |||
TUBB4A | No evidence available | No evidence available |
GRCh38 GRCh37 |
289 | 319 | |
ACER1 | - | - |
GRCh38 GRCh37 |
18 | 30 | |
ACSBG2 | - | - |
GRCh38 GRCh37 |
- | 57 | |
ADGRE1 | - | - |
GRCh38 GRCh37 |
76 | 90 | |
ALKBH7 | - | - |
GRCh38 GRCh37 |
21 | 34 | |
ARHGEF18 | - | - |
GRCh38 GRCh37 |
950 | 983 | |
C3 | - | - |
GRCh38 GRCh37 |
1194 | 1206 | |
CAMSAP3 | - | - |
GRCh38 GRCh37 |
87 | 101 | |
CAPS | - | - |
GRCh38 GRCh38 GRCh37 |
33 | 42 | |
CATSPERD | - | - |
GRCh38 GRCh37 |
65 | 77 |
There are 57 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 23, 2023 | RCV004579685.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024