ClinVar Genomic variation as it relates to human health
NC_000009.11:g.(?_104124710)_(104500261_?)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 | |||
ALDOB | - | - |
GRCh38 GRCh37 |
506 | 545 | |
BAAT | - | - |
GRCh38 GRCh38 GRCh37 |
167 | 204 | |
GRIN3A | - | - |
GRCh38 GRCh37 |
64 | 112 | |
MRPL50 | - | - |
GRCh38 GRCh37 |
11 | 48 | |
PGAP4 | - | - |
GRCh38 GRCh37 |
- | 55 | |
PPP3R2 | - | - |
GRCh38 GRCh37 |
- | 48 | |
RNF20 | - | - |
GRCh38 GRCh37 |
44 | 81 | |
ZNF189 | - | - |
GRCh38 GRCh37 |
16 | 69 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 17, 2021 | RCV003119110.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023