ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q41-42.12(chr1:222605125-224696628)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 |
326 | 360 | |
AIDA | - | - |
GRCh38 GRCh37 |
9 | 41 | |
BROX | - | - | - |
GRCh38 GRCh37 |
13 | 45 |
CAPN2 | - | - |
GRCh38 GRCh37 |
54 | 92 | |
CAPN8 | - | - |
GRCh38 GRCh37 |
29 | 63 | |
CCDC185 | - | - | - |
GRCh38 GRCh37 |
52 | 83 |
CNIH4 | - | - |
GRCh38 GRCh37 |
5 | 47 | |
DEGS1 | - | - |
GRCh38 GRCh37 |
73 | 114 | |
FAM177B | - | - | - |
GRCh38 GRCh37 |
4 | 36 |
FBXO28 | - | - |
GRCh38 GRCh37 |
29 | 75 |
There are 8 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) |
|
Apr 1, 2020 | RCV001259110.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022