ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q26.3(chr10:130693843-134772865)x1
Germline
Classification
(1)
Likely 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 | |||
EBF3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
221 | 323 | |
BNIP3 | - | - |
GRCh38 GRCh37 |
4 | 115 | |
CFAP46 | - | - |
GRCh38 GRCh37 |
91 | 211 | |
DPYSL4 | - | - |
GRCh38 GRCh37 |
39 | 140 | |
GLRX3 | - | - |
GRCh38 GRCh37 |
16 | 119 | |
INPP5A | - | - |
GRCh38 GRCh37 |
25 | 139 | |
JAKMIP3 | - | - |
GRCh38 GRCh37 |
58 | 161 | |
LINC01166 | - | - | - |
GRCh38 GRCh37 |
- | 118 |
LINC02870 | - | - | - |
GRCh38 GRCh37 |
2 | 107 |
LRRC27 | - | - | - |
GRCh38 GRCh37 |
44 | 150 |
There are 7 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 22, 2015 | RCV000511280.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024