ClinVar Genomic variation as it relates to human health
NC_000010.10:g.(?_80961390)_(81319734_?)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 | |||
EIF5AL1 | - | - | - |
GRCh38 GRCh37 |
9 | 23 |
PPIF | - | - |
GRCh38 GRCh37 |
10 | 31 | |
SFTPA2 | - | - |
GRCh38 GRCh37 |
79 | 97 | |
ZCCHC24 | - | - | - |
GRCh38 GRCh37 |
10 | 24 |
ZMIZ1 | - | - |
GRCh38 GRCh37 |
540 | 582 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 9, 2019 | RCV001032575.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024