ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_44257753)_(46663493_?)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 | |||
AKR1A1 | - | - |
GRCh38 GRCh37 |
18 | 37 | |
ARMH1 | - | - | - |
GRCh38 GRCh37 |
7 | 21 |
ARTN | - | - |
GRCh38 GRCh37 |
15 | 37 | |
ATP6V0B | - | - |
GRCh38 GRCh37 |
6 | 23 | |
B4GALT2 | - | - |
GRCh38 GRCh37 |
29 | 46 | |
BEST4 | - | - |
GRCh38 GRCh37 |
14 | 29 | |
BTBD19 | - | - | - |
GRCh38 GRCh37 |
23 | 34 |
CCDC17 | - | - | - |
GRCh38 GRCh37 |
60 | 80 |
CCDC24 | - | - | - |
GRCh38 GRCh37 |
22 | 39 |
DMAP1 | - | - |
GRCh38 GRCh37 |
23 | 37 |
There are 31 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 27, 2022 | RCV003109481.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024