ClinVar Genomic variation as it relates to human health
NC_000020.10:g.(?_31571600)_(33001705_?)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 | |||
ACTL10 | - | - | - |
GRCh38 GRCh37 |
- | 36 |
AHCY | - | - |
GRCh38 GRCh37 |
271 | 309 | |
ASIP | - | - |
GRCh38 GRCh37 |
- | 37 | |
BPIFA1 | - | - |
GRCh38 GRCh37 |
17 | 32 | |
BPIFA2 | - | - | - |
GRCh38 GRCh37 |
15 | 31 |
BPIFA3 | - | - | - |
GRCh38 GRCh37 |
15 | 40 |
BPIFB1 | - | - | - |
GRCh38 GRCh37 |
29 | 44 |
BPIFB2 | - | - |
GRCh38 GRCh37 |
29 | 48 | |
BPIFB3 | - | - |
GRCh38 GRCh37 |
29 | 46 | |
BPIFB4 | - | - |
GRCh38 GRCh37 |
44 | 60 |
There are 14 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) |
|
Sep 20, 2023 | RCV004579470.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024