ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)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 | |||
CHD7 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3347 | 3553 | |
ASPH | - | - |
GRCh38 GRCh37 |
173 | 217 | |
ATP6V1H | - | - |
GRCh38 GRCh37 |
28 | 54 | |
BPNT2 | - | - |
GRCh38 GRCh37 |
258 | 321 | |
CA8 | - | - |
GRCh38 GRCh37 |
75 | 103 | |
CERNA3 | - | - | - | GRCh38 | - | 22 |
CHCHD7 | - | - |
GRCh38 GRCh37 |
6 | 36 | |
CLVS1 | - | - |
GRCh38 GRCh37 |
14 | 49 | |
CYP7A1 | - | - |
GRCh38 GRCh37 |
144 | 206 | |
FAM110B | - | - |
GRCh38 GRCh37 |
18 | 45 |
There are 220 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) |
|
Jan 9, 2013 | RCV000143182.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024