ClinVar Genomic variation as it relates to human health
NC_000020.10:g.(?_3190198)_(6760201_?)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 | |||
ADAM33 | - | - |
GRCh38 GRCh37 |
63 | 109 | |
ADISSP | - | - |
GRCh38 GRCh37 |
1 | 37 | |
ADRA1D | - | - |
GRCh38 GRCh37 |
53 | 86 | |
AP5S1 | - | - |
GRCh38 GRCh37 |
24 | 68 | |
ATRN | - | - |
GRCh38 GRCh37 |
290 | 377 | |
BMP2 | - | - |
GRCh38 GRCh37 |
178 | 209 | |
CDC25B | - | - |
GRCh38 GRCh37 |
24 | 79 | |
CDS2 | - | - |
GRCh38 GRCh37 |
16 | 52 | |
CENPB | - | - |
GRCh38 GRCh37 |
28 | 72 | |
CHGB | - | - |
GRCh38 GRCh37 |
40 | 87 |
There are 27 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) |
|
Mar 1, 2023 | RCV004579445.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024