ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1
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 |
2027 | 2113 | |
ZBTB18 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
251 | 346 | |
HNRNPU | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
934 | 1062 | |
AKT3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
178 | 351 | |
CHRM3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
77 | 148 | |
RYR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
7439 | 8087 | |
ACTN2 | - | - |
GRCh38 GRCh37 |
1493 | 1558 | |
ADSS2 | - | - |
GRCh38 GRCh37 |
15 | 119 | |
AHCTF1 | - | - |
GRCh38 GRCh37 |
133 | 226 | |
AKT3-IT1 | - | - | - |
GRCh38 GRCh38 |
- | 49 |
There are 294 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jan 13, 2012 | RCV000137554.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024