ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1
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 | |||
AKR7A2 | - | - |
GRCh38 GRCh37 |
24 | 46 | |
AKR7A3 | - | - |
GRCh38 GRCh37 |
37 | 59 | |
AKR7L | - | - |
GRCh38 GRCh37 |
- | 22 | |
ALDH4A1 | - | - |
GRCh38 GRCh37 |
273 | 330 | |
ALPL | - | - |
GRCh38 GRCh37 |
1181 | 1196 | |
CAMK2N1 | - | - |
GRCh38 GRCh37 |
1 | 17 | |
CAPZB | - | - |
GRCh38 GRCh37 |
7 | 32 | |
CDA | - | - |
GRCh38 GRCh37 |
8 | 24 | |
CDC42 | - | - |
GRCh38 GRCh37 |
99 | 117 | |
CELA3A | - | - |
GRCh38 GRCh37 |
23 | 38 |
There are 213 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053789.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023