ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1
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 |
- | 34 | |
ADH1B | - | - |
GRCh38 GRCh37 |
36 | 62 | |
ADH1C | - | - |
GRCh38 GRCh37 |
30 | 51 | |
ADH4 | - | - |
GRCh38 GRCh37 |
- | 47 | |
ADH5 | - | - |
GRCh38 GRCh37 |
22 | 39 | |
ADH6 | - | - |
GRCh38 GRCh37 |
- | 36 | |
ADH7 | - | - |
GRCh38 GRCh37 |
43 | 65 | |
ATOH1 | - | - |
GRCh38 GRCh37 |
44 | 71 | |
BMPR1B | - | - |
GRCh38 GRCh37 |
364 | 395 | |
C4orf17 | - | - | - |
GRCh38 GRCh37 |
2 | 22 |
There are 18 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) |
|
Sep 24, 2019 | RCV001259285.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022