ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)
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 |
41 | 68 | |
ADCY10 | - | - |
GRCh38 GRCh37 |
332 | 521 | |
ATP1B1 | - | - |
GRCh38 GRCh37 |
20 | 43 | |
BLZF1 | - | - |
GRCh38 GRCh37 |
17 | 43 | |
C1orf112 | - | - | - |
GRCh38 GRCh37 |
- | 4 |
CCDC181 | - | - | - |
GRCh38 GRCh37 |
34 | 60 |
CD247 | - | - |
GRCh38 GRCh37 |
176 | 199 | |
CREG1 | - | - |
GRCh38 GRCh37 |
6 | 38 | |
DCAF6 | - | - |
GRCh38 GRCh37 |
49 | 244 | |
DNM3 | - | - |
GRCh38 GRCh37 |
55 | 90 |
There are 31 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) |
|
Mar 1, 2022 | RCV002053691.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022