ClinVar Genomic variation as it relates to human health
NC_000020.10:g.(?_31368130)_(34287210_?)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 | |||
GDF5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
188 | 410 | |
ACSS2 | - | - |
GRCh38 GRCh37 |
33 | 70 | |
ACTL10 | - | - | - |
GRCh38 GRCh37 |
- | 32 |
AHCY | - | - |
GRCh38 GRCh37 |
270 | 301 | |
ASIP | - | - |
GRCh38 GRCh37 |
- | 30 | |
BPIFA1 | - | - |
GRCh38 GRCh37 |
15 | 30 | |
BPIFA2 | - | - | - |
GRCh38 GRCh37 |
14 | 30 |
BPIFA3 | - | - | - |
GRCh38 GRCh37 |
13 | 38 |
BPIFB1 | - | - | - |
GRCh38 GRCh37 |
27 | 42 |
BPIFB2 | - | - |
GRCh38 GRCh37 |
27 | 46 |
There are 43 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 12, 2024 | RCV004579432.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 15, 2024