ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3
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 | |||
ADD2 | - | - |
GRCh38 GRCh37 |
29 | 47 | |
ANKRD53 | - | - |
GRCh38 GRCh37 |
52 | 67 | |
ATP6V1B1 | - | - |
GRCh38 GRCh37 |
626 | 687 | |
ATP6V1B1-AS1 | - | - | - | GRCh38 | - | 46 |
CD207 | - | - |
GRCh38 GRCh37 |
30 | 53 | |
CLEC4F | - | - |
GRCh38 GRCh37 |
37 | 50 | |
CYP26B1 | - | - |
GRCh38 GRCh37 |
119 | 133 | |
DYSF | - | - |
GRCh38 GRCh37 |
4022 | 4071 | |
EXOC6B | - | - |
GRCh38 GRCh37 |
237 | 256 | |
FIGLA | - | - |
GRCh38 GRCh37 |
61 | 74 |
There are 40 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 30, 2010 | RCV000133956.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024