ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q35-36.1(chr7:147897705-149874566)x3
Germline
Classification
(1)
not provided
no classification 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 | |||
CNTNAP2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1835 | 1996 | |
ATP6V0E2 | - | - |
GRCh38 GRCh37 |
14 | 83 | |
C7orf33 | - | - | - |
GRCh38 GRCh37 |
- | 71 |
CUL1 | - | - |
GRCh38 GRCh37 |
9 | 82 | |
EZH2 | - | - |
GRCh38 GRCh37 |
573 | 648 | |
KRBA1 | - | - | - |
GRCh38 GRCh37 |
69 | 138 |
LOC100134040 | - | - |
GRCh38 GRCh37 |
- | 66 | |
PDIA4 | - | - | - |
GRCh38 GRCh37 |
43 | 106 |
RNY1 | - | - |
GRCh38 GRCh37 |
- | 62 | |
RNY3 | - | - |
GRCh38 GRCh37 |
- | 62 |
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 |
---|---|---|---|---|
not provided (1) |
|
- | RCV001249216.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022