ClinVar Genomic variation as it relates to human health
NC_000004.11:g.(?_101947022)_(104640852_?)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 | |||
BANK1 | - | - |
GRCh38 GRCh37 |
54 | 80 | |
BDH2 | - | - | - |
GRCh38 GRCh37 |
17 | 35 |
CENPE | - | - |
GRCh38 GRCh37 |
371 | 389 | |
CISD2 | - | - |
GRCh38 GRCh37 |
4 | 77 | |
MANBA | - | - |
GRCh38 GRCh37 |
706 | 785 | |
NFKB1 | - | - |
GRCh38 GRCh37 |
689 | 732 | |
PPP3CA | - | - |
GRCh38 GRCh37 |
424 | 453 | |
SLC39A8 | - | - |
GRCh38 GRCh37 |
109 | 204 | |
SLC9B1 | - | - |
GRCh38 GRCh37 |
29 | 85 | |
SLC9B2 | - | - |
GRCh38 GRCh37 |
29 | 47 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 24, 2023 | RCV004580833.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024