ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
DISP1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
335 | 369 | |
ACBD3 | - | - |
GRCh38 GRCh37 |
12 | 68 | |
AIDA | - | - |
GRCh38 GRCh37 |
10 | 42 | |
BROX | - | - | - |
GRCh38 GRCh37 |
17 | 49 |
CAPN2 | - | - |
GRCh38 GRCh37 |
60 | 99 | |
CAPN8 | - | - |
GRCh38 GRCh37 |
32 | 66 | |
CCDC185 | - | - | - |
GRCh38 GRCh37 |
57 | 88 |
CDC42BPA | - | - |
GRCh38 GRCh37 |
82 | 120 | |
CNIH3 | - | - | - |
GRCh38 GRCh37 |
11 | 52 |
CNIH4 | - | - |
GRCh38 GRCh37 |
6 | 48 |
There are 34 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) |
|
May 22, 2019 | RCV001005178.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022