ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q35(chr2:219081620-219758878)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 | |||
ABCB6 | - | - |
GRCh38 GRCh37 |
184 | 218 | |
ANKZF1 | - | - |
GRCh38 GRCh37 |
546 | 581 | |
ASIC4 | - | - |
GRCh38 GRCh37 |
4 | 38 | |
ASIC4-AS1 | - | - | - | GRCh38 | - | 899 |
ATG9A | - | - |
GRCh38 GRCh37 |
40 | 74 | |
CHPF | - | - |
GRCh38 GRCh37 |
50 | 84 | |
CNPPD1 | - | - | - |
GRCh38 GRCh37 |
29 | 63 |
DES | - | - |
GRCh38 GRCh37 |
1052 | 1098 | |
DES-LCR | - | - | - | GRCh38 | - | 20 |
DNAJB2 | - | - |
GRCh38 GRCh37 |
282 | 321 |
There are 69 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 13, 2012 | RCV000138093.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024