ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)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 | |||
TAB2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
152 | 318 | |
HYMAI | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 18 | |
PLAGL1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
40 | 58 | |
ADGB | - | - |
GRCh38 GRCh37 |
99 | 114 | |
AKAP12 | - | - |
GRCh38 GRCh37 |
122 | 142 | |
ARMT1 | - | - |
GRCh38 GRCh37 |
26 | 45 | |
CCDC170 | - | - | - |
GRCh38 GRCh37 |
53 | 72 |
EPM2A | - | - |
GRCh38 GRCh37 |
237 | 442 | |
ESR1 | - | - |
GRCh38 GRCh37 |
111 | 210 | |
FBXO30 | - | - |
GRCh38 GRCh37 |
- | 33 |
There are 34 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV000448815.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024