ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1
Germline
Classification
(1)
Pathogenic
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 | |||
ADH1A | - | - |
GRCh38 GRCh37 |
- | 34 | |
ADH1B | - | - |
GRCh38 GRCh37 |
36 | 62 | |
ADH1C | - | - |
GRCh38 GRCh37 |
30 | 51 | |
ADH7 | - | - |
GRCh38 GRCh37 |
43 | 65 | |
AIMP1 | - | - |
GRCh38 GRCh37 |
112 | 135 | |
ARHGEF38 | - | - |
GRCh38 GRCh37 |
44 | 60 | |
BANK1 | - | - |
GRCh38 GRCh37 |
69 | 95 | |
BDH2 | - | - | - |
GRCh38 GRCh37 |
20 | 38 |
C4orf17 | - | - | - |
GRCh38 GRCh37 |
2 | 22 |
CENPE | - | - |
GRCh38 GRCh37 |
386 | 404 |
There are 26 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 |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003986501.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024