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 |
- | 32 | |
ADH1B | - | - |
GRCh38 GRCh37 |
31 | 57 | |
ADH1C | - | - |
GRCh38 GRCh37 |
28 | 49 | |
ADH7 | - | - |
GRCh38 GRCh37 |
36 | 58 | |
AIMP1 | - | - |
GRCh38 GRCh37 |
103 | 126 | |
ARHGEF38 | - | - |
GRCh38 GRCh37 |
40 | 56 | |
BANK1 | - | - |
GRCh38 GRCh37 |
54 | 80 | |
BDH2 | - | - | - |
GRCh38 GRCh37 |
17 | 35 |
C4orf17 | - | - | - |
GRCh38 GRCh37 |
2 | 22 |
CENPE | - | - |
GRCh38 GRCh37 |
371 | 389 |
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