ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)
Germline
Classification
(1)
Uncertain significance
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 | |||
PACS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
747 | 784 | |
ACTN3 | - | - |
GRCh38 GRCh37 |
114 | 130 | |
AP5B1 | - | - |
GRCh38 GRCh37 |
56 | 71 | |
B4GAT1 | - | - |
GRCh38 GRCh37 |
194 | 217 | |
BANF1 | - | - |
GRCh38 GRCh37 |
27 | 47 | |
BBS1 | - | - |
GRCh38 GRCh37 |
432 | 1072 | |
BRMS1 | - | - |
GRCh38 GRCh37 |
27 | 44 | |
C11orf68 | - | - | - |
GRCh38 GRCh37 |
1 | 14 |
CAPN1 | - | - |
GRCh38 GRCh37 |
240 | 290 | |
CATSPER1 | - | - |
GRCh38 GRCh37 |
155 | 168 |
There are 55 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) |
|
Mar 1, 2022 | RCV002052930.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023