ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q21.3(chr7:93285237-96280817)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 | |||
SGCE | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
66 | 651 | |
COL1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2054 | 2075 | |
PEG10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
17 | 35 | |
PPP1R9A | No evidence available | No evidence available |
GRCh38 GRCh37 |
75 | 117 | |
ASB4 | - | - |
GRCh38 GRCh37 |
27 | 45 | |
BET1 | - | - |
GRCh38 GRCh37 |
7 | 27 | |
C7orf76 | - | - | - |
GRCh38 GRCh37 |
- | 20 |
CASD1 | - | - |
GRCh38 GRCh37 |
28 | 615 | |
DYNC1I1 | - | - |
GRCh38 GRCh37 |
83 | 108 | |
GNG11 | - | - |
GRCh38 GRCh37 |
- | 22 |
There are 7 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 17, 2018 | RCV000682901.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022