ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3
Germline
Classification
(1)
Likely pathogenic
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 | |||
ADH1A | - | - |
GRCh38 GRCh37 |
- | 32 | |
ADH1B | - | - |
GRCh38 GRCh37 |
31 | 57 | |
ADH1C | - | - |
GRCh38 GRCh37 |
28 | 49 | |
ADH4 | - | - |
GRCh38 GRCh37 |
- | 47 | |
ADH5 | - | - |
GRCh38 GRCh37 |
19 | 36 | |
ADH6 | - | - |
GRCh38 GRCh37 |
- | 32 | |
ADH7 | - | - |
GRCh38 GRCh37 |
36 | 58 | |
AIMP1 | - | - |
GRCh38 GRCh37 |
102 | 125 | |
ARHGEF38 | - | - | - |
GRCh38 GRCh37 |
40 | 56 |
BANK1 | - | - |
GRCh38 GRCh37 |
54 | 79 |
There are 47 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
May 1, 2021 | RCV001827745.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022