ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_94800311)_(96107383_?)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 | |||
ARSK | - | - |
GRCh38 GRCh37 |
27 | 60 | |
CAST | - | - |
GRCh38 GRCh37 |
143 | 526 | |
ELL2 | - | - |
GRCh38 GRCh37 |
20 | 52 | |
ERAP1 | - | - |
GRCh38 GRCh37 |
102 | 246 | |
GLRX | - | - |
GRCh38 GRCh37 |
5 | 36 | |
GPR150 | - | - | - |
GRCh38 GRCh37 |
13 | 60 |
PCSK1 | - | - |
GRCh38 GRCh37 |
2 | 332 | |
RFESD | - | - | - |
GRCh38 GRCh37 |
- | 38 |
RHOBTB3 | - | - |
GRCh38 GRCh37 |
19 | 52 | |
SKIC3 | - | - |
GRCh38 GRCh37 |
1316 | 1344 |
There is 1 more gene 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) |
|
Sep 27, 2022 | RCV003116754.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023