ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)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 | |||
SGCE | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
66 | 651 | |
TRRAP | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1629 | 1701 | |
CYP3A43 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
26 | 52 | |
COL1A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2054 | 2075 | |
DLX5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
39 | 70 | |
DLX6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 102 | |
NPTX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
32 | 49 | |
PEG10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
17 | 35 | |
PPP1R9A | No evidence available | No evidence available |
GRCh38 GRCh37 |
75 | 117 | |
SEM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1 | 22 |
There are 57 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) |
|
Sep 28, 2015 | RCV000656540.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023