ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3
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 |
3269 | 3472 | |
RB1CC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
79 | 133 | |
CPA6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
113 | 247 | |
ADHFE1 | - | - |
GRCh38 GRCh37 |
22 | 49 | |
ALKAL1 | - | - |
GRCh38 GRCh37 |
9 | 60 | |
ARFGEF1 | - | - |
GRCh38 GRCh37 |
154 | 412 | |
ARFGEF1-DT | - | - | - | GRCh38 | - | 116 |
ARMC1 | - | - |
GRCh38 GRCh37 |
11 | 38 | |
ASPH | - | - |
GRCh38 GRCh37 |
170 | 213 | |
ATP6V1H | - | - |
GRCh38 GRCh37 |
25 | 51 |
There are 481 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) |
|
May 27, 2010 | RCV000133720.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024