ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q24.1(chr6:139093282-140660265)
Germline
Classification
(1)
Uncertain significance
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 | |||
CITED2 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
36 | 70 | |
ABRACL | - | - | - |
GRCh38 GRCh37 |
4 | 20 |
CCDC28A | - | - |
GRCh38 GRCh37 |
8 | 25 | |
ECT2L | - | - | - |
GRCh38 GRCh37 |
71 | 91 |
HECA | - | - |
GRCh38 GRCh37 |
2 | 33 | |
REPS1 | - | - |
GRCh38 GRCh37 |
172 | 189 | |
TXLNB | - | - |
GRCh38 GRCh37 |
18 | 65 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053629.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022