ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)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 | |||
FMO2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
37 | 63 | |
ADCY10 | - | - |
GRCh38 GRCh37 |
325 | 511 | |
ANKRD45 | - | - |
GRCh38 GRCh37 |
12 | 48 | |
ATP1B1 | - | - |
GRCh38 GRCh37 |
19 | 42 | |
BLZF1 | - | - |
GRCh38 GRCh37 |
16 | 41 | |
C1orf105 | - | - | - |
GRCh38 GRCh37 |
2 | 81 |
CACYBP | - | - |
GRCh38 GRCh37 |
7 | 39 | |
CCDC181 | - | - | - |
GRCh38 GRCh37 |
32 | 57 |
CD247 | - | - |
GRCh38 GRCh37 |
172 | 195 | |
CENPL | - | - |
GRCh38 GRCh37 |
20 | 65 |
There are 324 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) |
|
Aug 12, 2011 | RCV000053917.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024