ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q24.2-25(chr11:127690585-132404117)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 | |||
ADAMTS15 | - | - |
GRCh38 GRCh37 |
72 | 153 | |
ADAMTS8 | - | - |
GRCh38 GRCh37 |
62 | 143 | |
APLP2 | - | - |
GRCh38 GRCh37 |
58 | 136 | |
ARHGAP32 | - | - |
GRCh38 GRCh37 |
155 | 242 | |
BARX2 | - | - |
GRCh38 GRCh37 |
17 | 93 | |
ETS1 | - | - |
GRCh38 GRCh37 |
17 | 92 | |
FLI1 | - | - |
GRCh38 GRCh37 |
170 | 276 | |
KCNJ1 | - | - |
GRCh38 GRCh37 |
260 | 345 | |
KCNJ5 | - | - |
GRCh38 GRCh37 |
427 | 515 | |
KCNJ5-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 87 |
There are 10 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) |
|
May 4, 2018 | RCV000683367.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022