ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_79618104)_(79894690_?)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 | |||
ALYREF | - | - |
GRCh38 GRCh37 |
- | 27 | |
ANAPC11 | - | - |
GRCh38 GRCh37 |
4 | 31 | |
ARHGDIA | - | - |
GRCh38 GRCh37 |
32 | 79 | |
ARL16 | - | - |
GRCh38 GRCh37 |
12 | 41 | |
CCDC137 | - | - |
GRCh38 GRCh37 |
19 | 43 | |
GCGR | - | - |
GRCh38 GRCh38 GRCh37 |
150 | 173 | |
HGS | - | - |
GRCh38 GRCh37 |
52 | 77 | |
MAFG | - | - |
GRCh38 GRCh37 |
6 | 31 | |
MCRIP1 | - | - |
GRCh38 GRCh38 GRCh37 |
2 | 24 | |
MRPL12 | - | - |
GRCh38 GRCh37 |
94 | 119 |
There are 9 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) |
|
Jan 22, 2022 | RCV003109580.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023