ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3
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 | |||
AHNAK | - | - |
GRCh38 GRCh37 |
407 | 424 | |
ASRGL1 | - | - |
GRCh38 GRCh37 |
251 | 265 | |
B3GAT3 | - | - |
GRCh38 GRCh37 |
236 | 253 | |
BSCL2 | - | - |
GRCh38 GRCh37 |
3 | 562 | |
C11orf98 | - | - | - | GRCh38 | - | 6 |
CHRM1 | - | - |
GRCh38 GRCh37 |
18 | 33 | |
CSKMT | - | - |
GRCh38 GRCh37 |
- | 22 | |
EEF1G | - | - |
GRCh38 GRCh37 |
15 | 30 | |
EML3 | - | - |
GRCh38 GRCh37 |
30 | 48 | |
GANAB | - | - |
GRCh38 GRCh37 |
335 | 352 |
There are 102 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 21, 2012 | RCV000138411.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023