ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)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 | |||
AAMDC | - | - |
GRCh38 GRCh37 |
- | 32 | |
ACER3 | - | - |
GRCh38 GRCh37 |
75 | 85 | |
ALG8 | - | - |
GRCh38 GRCh37 |
319 | 332 | |
ANAPC15 | - | - |
GRCh38 GRCh37 |
- | 110 | |
AQP11 | - | - |
GRCh38 GRCh37 |
15 | 25 | |
ARAP1 | - | - |
GRCh38 GRCh37 |
77 | 97 | |
ARAP1-AS2 | - | - | - |
GRCh38 GRCh37 |
- | 20 |
ARHGEF17 | - | - |
GRCh38 GRCh37 |
77 | 109 | |
ARHGEF17-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 26 |
ARRB1 | - | - |
GRCh38 GRCh37 |
10 | 20 |
There are 347 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 | RCV000052709.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023