ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3
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 | |||
ANK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2586 | 3157 | |
PITX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
218 | 232 | |
ABHD18 | - | - | - |
GRCh38 GRCh37 |
16 | 61 |
ADAD1 | - | - |
GRCh38 GRCh37 |
19 | 42 | |
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 |
There are 653 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051776.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023