ClinVar Genomic variation as it relates to human health
NC_000011.10:g.31130456_31671718del
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
DCDC1 | - | - |
GRCh38 GRCh37 |
58 | 123 | |
DNAJC24 | - | - |
GRCh38 GRCh37 |
3 | 60 | |
ELP4 | - | - |
GRCh38 GRCh37 |
59 | 282 | |
IMMP1L | - | - |
GRCh38 GRCh37 |
10 | 71 | |
LOC105980005 | - | - | - | GRCh38 | - | 13 |
LOC126861175 | - | - | - | GRCh38 | - | 26 |
LOC129390272 | - | - | - | GRCh38 | - | 14 |
LOC129390273 | - | - | - | GRCh38 | - | 13 |
LOC129390274 | - | - | - | GRCh38 | - | 13 |
LOC130005470 | - | - | - | GRCh38 | - | 12 |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV000257311.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023