ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(?_43515590)_(44970656_?)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 | |||
KDM6A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
984 | 1182 | |
NDP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
18 | 334 | |
MAOA | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
185 | 343 | |
DUSP21 | - | - |
GRCh38 GRCh37 |
9 | 164 | |
EFHC2 | - | - |
GRCh38 GRCh37 |
49 | 203 | |
FUNDC1 | - | - |
GRCh38 GRCh37 |
7 | 165 | |
MAOB | - | - |
GRCh38 GRCh37 |
27 | 187 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 31, 2022 | RCV003109821.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 18, 2023