ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4
Germline
Classification
(1)
Likely 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 | |||
CNTNAP2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1819 | 1979 | |
ACTR3C | - | - | - |
GRCh38 GRCh37 |
21 | 92 |
ARHGEF35 | - | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 92 |
ARHGEF35-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 52 |
ARHGEF5 | - | - |
GRCh38 GRCh38 GRCh37 |
45 | 100 | |
ATP6V0E2 | - | - |
GRCh38 GRCh37 |
10 | 79 | |
ATP6V0E2-AS1 | - | - | - | GRCh38 | - | 30 |
C7orf33 | - | - | - |
GRCh38 GRCh37 |
- | 70 |
CNTNAP2-AS1 | - | - | - | GRCh38 | - | 31 |
CTAGE4 | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 82 |
There are 164 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Sep 27, 2013 | RCV000138555.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024