ClinVar Genomic variation as it relates to human health
NC_000004.11:g.(?_101947022)_(104640832_?)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 | |||
BANK1 | - | - |
GRCh38 GRCh37 |
54 | 79 | |
BDH2 | - | - | - |
GRCh38 GRCh37 |
17 | 34 |
CENPE | - | - |
GRCh38 GRCh37 |
371 | 388 | |
CISD2 | - | - |
GRCh38 GRCh37 |
4 | 75 | |
MANBA | - | - |
GRCh38 GRCh37 |
702 | 780 | |
NFKB1 | - | - |
GRCh38 GRCh37 |
686 | 728 | |
PPP3CA | - | - |
GRCh38 GRCh37 |
422 | 450 | |
SLC39A8 | - | - |
GRCh38 GRCh37 |
109 | 202 | |
SLC9B1 | - | - |
GRCh38 GRCh37 |
29 | 83 | |
SLC9B2 | - | - |
GRCh38 GRCh37 |
29 | 46 |
There are 2 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 |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV001946800.6 | |
Pathogenic (1) |
|
Jun 27, 2022 | RCV003107924.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024