ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3
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 | |||
AHNAK | - | - |
GRCh38 GRCh37 |
563 | 581 | |
B3GAT3 | - | - |
GRCh38 GRCh37 |
241 | 259 | |
BSCL2 | - | - |
GRCh38 GRCh37 |
5 | 567 | |
C11orf98 | - | - | - | GRCh38 | - | 8 |
CHRM1 | - | - |
GRCh38 GRCh37 |
27 | 42 | |
CSKMT | - | - |
GRCh38 GRCh37 |
- | 38 | |
EEF1G | - | - |
GRCh38 GRCh37 |
22 | 38 | |
EML3 | - | - |
GRCh38 GRCh37 |
50 | 69 | |
GANAB | - | - |
GRCh38 GRCh37 |
357 | 376 | |
GNG3 | - | - |
GRCh38 GRCh37 |
- | 33 |
There are 97 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053620.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024