ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q24.2-25(chr11:125785487-134938470)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 | |||
ACAD8 | - | - |
GRCh38 GRCh37 |
259 | 360 | |
ADAMTS15 | - | - |
GRCh38 GRCh37 |
72 | 153 | |
ADAMTS8 | - | - |
GRCh38 GRCh37 |
62 | 143 | |
APLP2 | - | - |
GRCh38 GRCh37 |
58 | 136 | |
ARHGAP32 | - | - |
GRCh38 GRCh37 |
155 | 242 | |
B3GAT1 | - | - |
GRCh38 GRCh37 |
14 | 111 | |
BARX2 | - | - |
GRCh38 GRCh37 |
17 | 93 | |
CDON | - | - |
GRCh38 GRCh37 |
652 | 726 | |
DCPS | - | - |
GRCh38 GRCh37 |
30 | 142 | |
DDX25 | - | - |
GRCh38 GRCh37 |
60 | 129 |
There are 33 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) |
|
Apr 9, 2020 | RCV001258504.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022