ClinVar Genomic variation as it relates to human health
NC_000004.11:g.(?_55124936)_(57368027_?)del
Germline
Classification
(2)
Pathogenic
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 | 67 | |
CEP135 | - | - |
GRCh38 GRCh37 |
426 | 451 | |
CLOCK | - | - |
GRCh38 GRCh37 |
16 | 54 | |
CRACD | - | - |
GRCh38 GRCh37 |
21 | 49 | |
EXOC1 | - | - |
GRCh38 GRCh37 |
21 | 48 | |
KDR | - | - |
GRCh38 GRCh37 |
108 | 133 | |
KIT | - | - |
GRCh38 GRCh37 |
2790 | 2819 | |
NMU | - | - |
GRCh38 GRCh37 |
5 | 32 | |
PAICS | - | - |
GRCh38 GRCh37 |
7 | 35 | |
PDCL2 | - | - |
GRCh38 GRCh37 |
1 | 29 |
There are 5 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) |
|
- | RCV003119917.5 | |
Pathogenic (1) |
|
Oct 28, 2021 | RCV003119918.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023