ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1
Germline
Classification
(1)
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 | |
ATOH1 | - | - |
GRCh38 GRCh37 |
41 | 68 | |
BMPR1B | - | - |
GRCh38 GRCh37 |
364 | 395 | |
BMPR1B-DT | - | - | - | GRCh38 | - | 8 |
There are 115 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
|
Pathogenic (1) |
|
Apr 30, 2011 | RCV000140412.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023