ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.23-36.22(chr1:8473813-9852687)x1
Germline
Classification
(1)
Likely 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 | |||
CA6 | - | - |
GRCh38 GRCh37 |
19 | 61 | |
CLSTN1 | - | - |
GRCh38 GRCh37 |
62 | 101 | |
ENO1 | - | - |
GRCh38 GRCh37 |
19 | 62 | |
ENO1-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 43 |
GPR157 | - | - | - |
GRCh38 GRCh37 |
23 | 65 |
H6PD | - | - |
GRCh38 GRCh37 |
202 | 245 | |
MIR34A | - | - |
GRCh38 GRCh37 |
- | 41 | |
PIK3CD | - | - |
GRCh38 GRCh37 |
688 | 867 | |
RERE | - | - |
GRCh38 GRCh37 |
708 | 758 | |
SLC25A33 | - | - |
GRCh38 GRCh37 |
18 | 61 |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 16, 2021 | RCV002472637.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022