ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)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 | |||
FMO2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
24 | 50 | |
ANKRD45 | - | - |
GRCh38 GRCh37 |
7 | 42 | |
ASTN1 | - | - |
GRCh38 GRCh37 |
69 | 96 | |
BLZF1 | - | - |
GRCh38 GRCh37 |
12 | 37 | |
BRINP2 | - | - |
GRCh38 GRCh37 |
32 | 61 | |
C1orf105 | - | - | - |
GRCh38 GRCh37 |
1 | 78 |
CACYBP | - | - |
GRCh38 GRCh37 |
6 | 38 | |
CCDC181 | - | - | - |
GRCh38 GRCh37 |
22 | 47 |
CENPL | - | - |
GRCh38 GRCh37 |
14 | 59 | |
COP1 | - | - |
GRCh38 GRCh37 |
17 | 45 |
There are 231 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000137128.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023