ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3
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 | |||
FH | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1930 | 2014 | |
WDR26 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
156 | 200 | |
ZBTB18 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
235 | 325 | |
HNRNPU | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
926 | 1049 | |
AKT3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
172 | 337 | |
CHRM3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
74 | 145 | |
DISC1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
8 | 159 | |
RYR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
7342 | 7978 | |
ABCB10 | - | - |
GRCh38 GRCh37 |
23 | 71 | |
ACBD3 | - | - |
GRCh38 GRCh37 |
5 | 49 |
There are 943 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) |
|
Sep 16, 2011 | RCV000137769.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 02, 2023