ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q43-44(chr1:243453390-245467768)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 |
251 | 346 | |
HNRNPU | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
934 | 1062 | |
AKT3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
178 | 351 | |
ADSS2 | - | - |
GRCh38 GRCh37 |
15 | 119 | |
CATSPERE | - | - |
GRCh38 GRCh37 |
7 | 114 | |
COX20 | - | - |
GRCh38 GRCh37 |
80 | 221 | |
DESI2 | - | - |
GRCh38 GRCh37 |
6 | 107 | |
EFCAB2 | - | - |
GRCh38 GRCh37 |
5 | 112 | |
KIF26B | - | - |
GRCh38 GRCh38 GRCh37 |
258 | 391 | |
SDCCAG8 | - | - |
GRCh38 GRCh38 GRCh37 |
550 | 725 |
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) |
|
- | RCV003987217.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024