ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q43-44(chr1:243225391-245289313)x1
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 | |||
ZBTB18 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
239 | 329 | |
HNRNPU | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
930 | 1053 | |
AKT3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
173 | 338 | |
ADSS2 | - | - |
GRCh38 GRCh37 |
14 | 114 | |
AKT3-IT1 | - | - | - |
GRCh38 GRCh38 |
- | 49 |
C1orf202 | - | - | - | GRCh38 | - | 45 |
CATSPERE | - | - |
GRCh38 GRCh37 |
7 | 110 | |
CEP170 | - | - |
GRCh38 GRCh38 GRCh37 |
87 | 191 | |
COX20 | - | - |
GRCh38 GRCh37 |
78 | 214 | |
DESI2 | - | - |
GRCh38 GRCh37 |
5 | 102 |
There are 58 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000054032.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024