ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q35(chr2:220169575-220625221)x3
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 | |||
ASIC4 | - | - |
GRCh38 GRCh37 |
4 | 38 | |
CHPF | - | - |
GRCh38 GRCh37 |
58 | 93 | |
DES | - | - |
GRCh38 GRCh37 |
1058 | 1104 | |
DNPEP | - | - |
GRCh38 GRCh37 |
45 | 80 | |
GMPPA | - | - |
GRCh38 GRCh37 |
- | 172 | |
INHA | - | - |
GRCh38 GRCh37 |
32 | 61 | |
OBSL1 | - | - |
GRCh38 GRCh37 |
1089 | 1143 | |
PTPRN | - | - |
GRCh38 GRCh37 |
68 | 106 | |
RESP18 | - | - |
GRCh38 GRCh37 |
18 | 52 | |
SLC4A3 | - | - |
GRCh38 GRCh37 |
110 | 139 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 16, 2022 | RCV003484089.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024