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 |
1967 | 2051 | |
WDR26 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
163 | 208 | |
ZBTB18 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
238 | 328 | |
HNRNPU | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
930 | 1053 | |
AKT3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
172 | 337 | |
CHRM3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
76 | 147 | |
DISC1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
8 | 167 | |
RYR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
7381 | 8021 | |
ABCB10 | - | - |
GRCh38 GRCh37 |
31 | 81 | |
ACBD3 | - | - |
GRCh38 GRCh37 |
8 | 57 |
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 | RCV000137769.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024