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 |
3244 | 3444 | |
ASPH | - | - |
GRCh38 GRCh37 |
169 | 211 | |
ATP6V1H | - | - |
GRCh38 GRCh37 |
25 | 51 | |
BPNT2 | - | - |
GRCh38 GRCh37 |
257 | 319 | |
CA8 | - | - |
GRCh38 GRCh37 |
70 | 98 | |
CERNA3 | - | - | - | GRCh38 | - | 22 |
CHCHD7 | - | - |
GRCh38 GRCh37 |
5 | 35 | |
CLVS1 | - | - |
GRCh38 GRCh37 |
11 | 45 | |
CYP7A1 | - | - |
GRCh38 GRCh37 |
136 | 197 | |
FAM110B | - | - |
GRCh38 GRCh37 |
15 | 42 |
There are 218 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 9, 2013 | RCV000143182.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024