ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.31-36.23(chr1:6763143-8367573)x1
Germline
Classification
(1)
Uncertain significance
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 |
602 | 712 | |
CAMTA1-AS1 | - | - | - | GRCh38 | - | 23 |
CAMTA1-AS2 | - | - | - | GRCh38 | - | 22 |
CAMTA1-AS3 | - | - | - | GRCh38 | - | 22 |
CAMTA1-DT | - | - | - | GRCh38 | - | 25 |
CAMTA1-IT1 | - | - | - | GRCh38 | - | 23 |
ERRFI1 | - | - |
GRCh38 GRCh37 |
26 | 70 | |
ERRFI1-DT | - | - | - | GRCh38 | - | 17 |
LINC01714 | - | - | - | GRCh38 | - | 16 |
LOC105376689 | - | - | - | GRCh38 | - | 22 |
There are 55 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
|
Uncertain significance (1) |
|
Dec 22, 2010 | RCV000142706.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024