ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q35-36.1(chr7:147345844-150426340)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 | |||
CNTNAP2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1832 | 1993 | |
ACTR3C | - | - | - |
GRCh38 GRCh37 |
22 | 93 |
ATP6V0E2 | - | - |
GRCh38 GRCh37 |
14 | 83 | |
ATP6V0E2-AS1 | - | - | - | GRCh38 | - | 30 |
C7orf33 | - | - | - |
GRCh38 GRCh37 |
- | 71 |
CUL1 | - | - |
GRCh38 GRCh37 |
9 | 82 | |
EZH2 | - | - |
GRCh38 GRCh37 |
569 | 644 | |
GHET1 | - | - | GRCh38 | - | 29 | |
KRBA1 | - | - | - |
GRCh38 GRCh37 |
69 | 138 |
LOC100134040 | - | - |
GRCh38 GRCh37 |
- | 66 |
There are 134 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050838.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024