ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q43-44(chr1:240244444-248891309)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 | |||
FH | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1967 | 2051 | |
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 | |
ADSS2 | - | - |
GRCh38 GRCh37 |
14 | 114 | |
AHCTF1 | - | - |
GRCh38 GRCh37 |
116 | 209 | |
AKT3-IT1 | - | - | - |
GRCh38 GRCh38 |
- | 49 |
BECN2 | - | - | GRCh38 | 4 | 40 | |
C1orf202 | - | - | - | GRCh38 | - | 45 |
CATSPERE | - | - |
GRCh38 GRCh37 |
7 | 110 |
There are 265 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 | RCV000051888.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023