ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q12.3(chr11:61840997-62987330)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 | |||
AHNAK | - | - |
GRCh38 GRCh37 |
563 | 581 | |
ASRGL1 | - | - |
GRCh38 GRCh37 |
254 | 269 | |
B3GAT3 | - | - |
GRCh38 GRCh37 |
241 | 259 | |
BSCL2 | - | - |
GRCh38 GRCh37 |
5 | 567 | |
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 39 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
- | RCV000448355.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024