ClinVar Genomic variation as it relates to human health
NC_000001.11:g.(?_155282411)_(155323834_?)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 | |||
FDPS | - | - |
GRCh38 GRCh37 |
10 | 44 | |
HCN3 | - | - |
GRCh38 GRCh38 GRCh37 |
42 | 69 | |
LOC129931559 | - | - | - | GRCh38 | - | 5 |
LOC129931560 | - | - | - | GRCh38 | - | 5 |
LOC129931561 | - | - | - | GRCh38 | - | 5 |
LOC129931562 | - | - | - | GRCh38 | - | 5 |
LOC129931563 | - | - | - | GRCh38 | - | 5 |
LOC129931564 | - | - | - | GRCh38 | - | 5 |
LOC129931565 | - | - | - | GRCh38 | - | 5 |
PKLR | - | - |
GRCh38 GRCh38 GRCh37 |
301 | 328 |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37 , GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 21, 2019 | RCV000816636.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024