ClinVar Genomic variation as it relates to human health
NC_000004.11:g.(?_55124936)_(57798318_?)dup
Germline
Classification
(2)
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 | |||
AASDH | - | - |
GRCh38 GRCh37 |
41 | 63 | |
ARL9 | - | - |
GRCh38 GRCh37 |
3 | 23 | |
CEP135 | - | - |
GRCh38 GRCh37 |
426 | 448 | |
CLOCK | - | - |
GRCh38 GRCh37 |
16 | 51 | |
CRACD | - | - |
GRCh38 GRCh37 |
20 | 45 | |
EXOC1 | - | - |
GRCh38 GRCh37 |
21 | 45 | |
HOPX | - | - |
GRCh38 GRCh37 |
12 | 32 | |
KDR | - | - |
GRCh38 GRCh37 |
108 | 130 | |
KIT | - | - |
GRCh38 GRCh37 |
2794 | 2820 | |
NMU | - | - |
GRCh38 GRCh37 |
5 | 28 |
There are 10 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 |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV001944395.3 | |
Uncertain significance (1) |
|
Jul 30, 2022 | RCV003120758.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023