ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.23-36.22(chr1:7391956-9775929)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 | |||
CAMTA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
583 | 690 | |
CA6 | - | - |
GRCh38 GRCh37 |
19 | 61 | |
ENO1 | - | - |
GRCh38 GRCh37 |
19 | 62 | |
ENO1-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 43 |
ERRFI1 | - | - |
GRCh38 GRCh37 |
25 | 67 | |
GPR157 | - | - | - |
GRCh38 GRCh37 |
23 | 65 |
H6PD | - | - |
GRCh38 GRCh37 |
202 | 245 | |
MIR34A | - | - |
GRCh38 GRCh37 |
- | 41 | |
PARK7 | - | - |
GRCh38 GRCh37 |
142 | 186 | |
PER3 | - | - |
GRCh38 GRCh37 |
87 | 171 |
There are 11 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 8, 2017 | RCV000684546.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022