ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)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 | |||
EBF3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
221 | 323 | |
ABRAXAS2 | - | - |
GRCh38 GRCh37 |
24 | 84 | |
ACADSB | - | - |
GRCh38 GRCh37 |
302 | 359 | |
ADAM12 | - | - |
GRCh38 GRCh37 |
55 | 128 | |
ADAM8 | - | - |
GRCh38 GRCh37 |
93 | 206 | |
ADGRA1 | - | - |
GRCh38 GRCh37 |
45 | 159 | |
ARMS2 | - | - |
GRCh38 GRCh37 |
29 | 89 | |
ATE1 | - | - |
GRCh38 GRCh37 |
37 | 84 | |
BCCIP | - | - |
GRCh38 GRCh37 |
13 | 274 | |
BNIP3 | - | - |
GRCh38 GRCh37 |
4 | 115 |
There are 72 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) |
|
Jan 1, 2023 | RCV003222684.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024