ClinVar Genomic variation as it relates to human health
NC_000017.11:g.(?_44027807)_(44352876_?)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 | |||
ASB16 | - | - |
GRCh38 GRCh37 |
18 | 58 | |
ATXN7L3 | - | - |
GRCh38 GRCh37 |
20 | 30 | |
G6PC3 | - | - |
GRCh38 GRCh37 |
324 | 402 | |
GRN | - | - |
GRCh38 GRCh37 |
655 | 694 | |
HDAC5 | - | - |
GRCh38 GRCh37 |
82 | 93 | |
HROB | - | - |
GRCh38 GRCh37 |
6 | 15 | |
LSM12 | - | - |
GRCh38 GRCh37 |
2 | 12 | |
RUNDC3A | - | - |
GRCh38 GRCh37 |
17 | 25 | |
SLC25A39 | - | - |
GRCh38 GRCh37 |
35 | 43 | |
SLC4A1 | - | - |
GRCh38 GRCh37 |
685 | 695 |
There are 2 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 26, 2019 | RCV001032594.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024