ClinVar Genomic variation as it relates to human health
NC_000019.9:g.(?_10244343)_(10610709_?)del
Germline
Classification
(1)
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 | |||
CDC37 | - | - |
GRCh38 GRCh37 |
18 | 35 | |
DNMT1 | - | - |
GRCh38 GRCh37 |
1279 | 1422 | |
FDX2 | - | - |
GRCh38 GRCh37 |
6 | 147 | |
ICAM1 | - | - |
GRCh38 GRCh37 |
49 | 67 | |
ICAM3 | - | - |
GRCh38 GRCh37 |
45 | 61 | |
ICAM4 | - | - |
GRCh38 GRCh37 |
- | 36 | |
ICAM5 | - | - |
GRCh38 GRCh37 |
38 | 48 | |
KEAP1 | - | - |
GRCh38 GRCh37 |
41 | 59 | |
MRPL4 | - | - |
GRCh38 GRCh37 |
6 | 16 | |
PDE4A | - | - |
GRCh38 GRCh37 |
52 | 72 |
There are 4 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 27, 2023 | RCV004581090.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024