ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(?_14027032)_(19854400_?)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 | |||
AP1S2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
66 | 252 | |
CDKL5 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1256 | 2023 | |
FANCB | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
629 | 820 | |
NHS | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
543 | 729 | |
PDHA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
574 | 795 | |
PIGA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
348 | 523 | |
RS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
124 | 876 | |
ACE2 | - | - |
GRCh38 GRCh37 |
16 | 216 | |
ADGRG2 | - | - |
GRCh38 GRCh37 |
68 | 251 | |
ASB11 | - | - |
GRCh38 GRCh37 |
28 | 201 |
There are 27 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 24, 2023 | RCV004583528.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024