ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q31.3-32.1(chr4:153986026-156952467)
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 | |||
ASIC5 | - | - |
GRCh38 GRCh38 GRCh37 |
39 | 77 | |
CTSO | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 65 | |
DCHS2 | - | - |
GRCh38 GRCh38 GRCh37 |
189 | 222 | |
FGA | - | - |
GRCh38 GRCh37 |
209 | 241 | |
FGB | - | - |
GRCh38 GRCh37 |
196 | 228 | |
FGG | - | - |
GRCh38 GRCh37 |
141 | 175 | |
GUCY1A1 | - | - |
GRCh38 GRCh37 |
96 | 135 | |
GUCY1B1 | - | - |
GRCh38 GRCh37 |
20 | 60 | |
LOC105377500 | - | - | - | GRCh38 | - | 12 |
LOC105377502 | - | - | - | GRCh38 | - | 12 |
There are 37 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 16, 2023 | RCV004555213.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024