ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3
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 |
24 | 50 | |
ABL2 | - | - |
GRCh38 GRCh37 |
34 | 61 | |
ADCY10 | - | - |
GRCh38 GRCh37 |
313 | 494 | |
ALDH9A1 | - | - |
GRCh38 GRCh37 |
22 | 42 | |
ANGPTL1 | - | - |
GRCh38 GRCh37 |
- | 43 | |
ANKRD45 | - | - |
GRCh38 GRCh37 |
7 | 42 | |
ASTN1 | - | - |
GRCh38 GRCh37 |
69 | 96 | |
ATP1B1 | - | - |
GRCh38 GRCh37 |
17 | 40 | |
AXDND1 | - | - | - |
GRCh38 GRCh37 |
39 | 246 |
BLZF1 | - | - |
GRCh38 GRCh37 |
12 | 37 |
There are 474 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 | RCV000051856.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023