ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_19199339)_(22987879_?)dup
Germline
Classification
(3)
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 | |||
AKR7A2 | - | - |
GRCh38 GRCh37 |
24 | 46 | |
AKR7A3 | - | - |
GRCh38 GRCh37 |
37 | 59 | |
AKR7L | - | - |
GRCh38 GRCh37 |
- | 22 | |
ALDH4A1 | - | - |
GRCh38 GRCh37 |
273 | 330 | |
ALPL | - | - |
GRCh38 GRCh37 |
1181 | 1196 | |
C1QA | - | - |
GRCh38 GRCh37 |
132 | 144 | |
C1QB | - | - |
GRCh38 GRCh37 |
101 | 112 | |
C1QC | - | - |
GRCh38 GRCh37 |
137 | 149 | |
CAMK2N1 | - | - |
GRCh38 GRCh37 |
1 | 17 | |
CAPZB | - | - |
GRCh38 GRCh37 |
7 | 32 |
There are 41 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 29, 2022 | RCV003107740.3 | |
Uncertain significance (1) |
|
Jul 29, 2022 | RCV003113321.2 | |
Uncertain significance (1) |
|
Jul 29, 2022 | RCV003113320.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024