ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q11.21-11.22(chr7:63583563-71047246)x1
Germline
Classification
(1)
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 | |||
AUTS2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
993 | 1060 | |
ASL | - | - |
GRCh38 GRCh37 |
855 | 891 | |
CRCP | - | - |
GRCh38 GRCh37 |
7 | 29 | |
ERV3-1 | - | - |
GRCh38 GRCh37 |
- | 22 | |
GALNT17 | - | - |
GRCh38 GRCh37 |
31 | 62 | |
GUSB | - | - |
GRCh38 GRCh37 |
600 | 659 | |
KCTD7 | - | - |
GRCh38 GRCh37 |
360 | 460 | |
RABGEF1 | - | - |
GRCh38 GRCh37 |
22 | 45 | |
SBDS | - | - |
GRCh38 GRCh37 |
114 | 135 | |
TMEM248 | - | - | - |
GRCh38 GRCh37 |
11 | 35 |
There are 12 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 27, 2015 | RCV000511553.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024