ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1
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 | |||
ACER3 | - | - |
GRCh38 GRCh37 |
76 | 86 | |
ANAPC15 | - | - |
GRCh38 GRCh37 |
- | 112 | |
ARAP1 | - | - |
GRCh38 GRCh37 |
101 | 126 | |
ARAP1-AS2 | - | - | - |
GRCh38 GRCh37 |
- | 25 |
ARHGEF17 | - | - |
GRCh38 GRCh37 |
112 | 153 | |
ARHGEF17-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 33 |
ARRB1 | - | - |
GRCh38 GRCh37 |
17 | 27 | |
ATG16L2 | - | - |
GRCh38 GRCh37 |
36 | 60 | |
B3GNT6 | - | - |
GRCh38 GRCh37 |
29 | 37 | |
C2CD3 | - | - |
GRCh38 GRCh37 |
858 | 926 |
There are 297 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) |
|
Aug 12, 2011 | RCV000052708.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023