ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.23(chr1:7526232-8290521)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 | |||
CAMTA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
602 | 712 | |
ERRFI1 | - | - |
GRCh38 GRCh37 |
26 | 70 | |
PARK7 | - | - |
GRCh38 GRCh37 |
143 | 189 | |
PER3 | - | - |
GRCh38 GRCh37 |
96 | 182 | |
TNFRSF9 | - | - |
GRCh38 GRCh37 |
151 | 197 | |
UTS2 | - | - |
GRCh38 GRCh37 |
16 | 65 | |
VAMP3 | - | - |
GRCh38 GRCh37 |
8 | 60 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 1, 2022 | RCV002474568.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022