ClinVar Genomic variation as it relates to human health
NC_000004.11:g.(?_100239320)_(100528137_?)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 | |||
ADH1B | - | - |
GRCh38 GRCh37 |
31 | 57 | |
ADH1C | - | - |
GRCh38 GRCh37 |
28 | 49 | |
ADH7 | - | - |
GRCh38 GRCh37 |
36 | 58 | |
C4orf17 | - | - | - |
GRCh38 GRCh37 |
2 | 22 |
MTTP | - | - |
GRCh38 GRCh37 |
1084 | 1113 | |
TRMT10A | - | - |
GRCh38 GRCh37 |
121 | 143 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 21, 2022 | RCV003113682.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023