ClinVar Genomic variation as it relates to human health
NC_000018.9:g.(?_59713089)_(61654512_?)del
Germline
Classification
(2)
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 | |||
BCL2 | - | - |
GRCh38 GRCh37 |
6 | 99 | |
HMSD | - | - |
GRCh38 GRCh37 |
13 | 110 | |
KDSR | - | - |
GRCh38 GRCh37 |
27 | 116 | |
PHLPP1 | - | - |
GRCh38 GRCh37 |
130 | 216 | |
PIGN | - | - |
GRCh38 GRCh37 |
1214 | 1332 | |
RELCH | - | - |
GRCh38 GRCh37 |
56 | 150 | |
SERPINB10 | - | - |
GRCh38 GRCh37 |
19 | 116 | |
SERPINB11 | - | - |
GRCh38 GRCh37 |
39 | 131 | |
SERPINB12 | - | - |
GRCh38 GRCh37 |
30 | 120 | |
SERPINB13 | - | - |
GRCh38 GRCh37 |
26 | 122 |
There are 9 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) |
|
Oct 13, 2022 | RCV001909119.5 | |
no classifications from unflagged records (1) |
|
- | RCV001898809.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024