ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q26.2-26.3(chr10:129381095-135427143)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 | |||
ADAM8 | - | - |
GRCh38 GRCh37 |
93 | 206 | |
ADGRA1 | - | - |
GRCh38 GRCh37 |
45 | 159 | |
BNIP3 | - | - |
GRCh38 GRCh37 |
4 | 115 | |
CALY | - | - |
GRCh38 GRCh37 |
- | 126 | |
CFAP46 | - | - |
GRCh38 GRCh37 |
91 | 211 | |
CLRN3 | - | - | - |
GRCh38 GRCh37 |
20 | 107 |
CYP2E1 | - | - |
GRCh38 GRCh37 |
27 | 211 | |
DPYSL4 | - | - |
GRCh38 GRCh37 |
39 | 140 | |
EBF3 | - | - |
GRCh38 GRCh37 |
225 | 327 | |
ECHS1 | - | - |
GRCh38 GRCh37 |
294 | 461 |
There are 27 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) |
|
Dec 10, 2021 | RCV001006364.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022