ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(?_82763333)_(86924394_?)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 | |||
CHM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
798 | 1027 | |
ZNF711 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
146 | 307 | |
APOOL | - | - |
GRCh38 GRCh37 |
19 | 169 | |
CYLC1 | - | - |
GRCh38 GRCh37 |
38 | 188 | |
DACH2 | - | - |
GRCh38 GRCh37 |
47 | 205 | |
HDX | - | - |
GRCh38 GRCh37 |
31 | 182 | |
KLHL4 | - | - |
GRCh38 GRCh37 |
29 | 182 | |
POF1B | - | - |
GRCh38 GRCh37 |
82 | 246 | |
POU3F4 | - | - |
GRCh38 GRCh37 |
135 | 282 | |
RPS6KA6 | - | - |
GRCh38 GRCh37 |
26 | 178 |
There is 1 more gene 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) |
|
Nov 13, 2019 | RCV001033898.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024