ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q13.2(chr11:65963737-66581485)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
PACS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
766 | 803 | |
ACTN3 | - | - |
GRCh38 GRCh37 |
124 | 140 | |
B4GAT1 | - | - |
GRCh38 GRCh37 |
195 | 218 | |
BBS1 | - | - |
GRCh38 GRCh37 |
454 | 1124 | |
BRMS1 | - | - |
GRCh38 GRCh37 |
31 | 48 | |
CCDC87 | - | - | - |
GRCh38 GRCh37 |
66 | 82 |
CCS | - | - |
GRCh38 GRCh37 |
24 | 40 | |
CD248 | - | - |
GRCh38 GRCh37 |
59 | 77 | |
CNIH2 | - | - |
GRCh38 GRCh37 |
4 | 21 | |
CTSF | - | - |
GRCh38 GRCh37 |
226 | 245 |
There are 17 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 1, 2021 | RCV001827874.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024