ClinVar Genomic variation as it relates to human health
NC_000005.10:g.(?_131428263)_(132208822_?)del
Germline
Classification
(1)
Likely 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 | |||
ACSL6 | - | - |
GRCh38 GRCh37 |
33 | 52 | |
ACSL6-AS1 | - | - | - | GRCh38 | - | 7 |
CSF2 | - | - |
GRCh38 GRCh37 |
11 | 30 | |
FNIP1 | - | - |
GRCh38 GRCh37 |
314 | 346 | |
IL3 | - | - |
GRCh38 GRCh37 |
15 | 34 | |
LOC107198087 | - | - | - | GRCh38 | - | 7 |
LOC108449898 | - | - | - | GRCh38 | - | 7 |
LOC112997558 | - | - | - | GRCh38 | - | 7 |
LOC121079960 | - | - | - | GRCh38 | - | 7 |
LOC121079961 | - | - | - | GRCh38 | - | 8 |
There are 15 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 20, 2018 | RCV000754294.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024