ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3
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 | |||
EYA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
518 | 556 | |
CPA6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
112 | 241 | |
IMPA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
21 | 64 | |
ADHFE1 | - | - |
GRCh38 GRCh37 |
18 | 45 | |
ARFGEF1 | - | - |
GRCh38 GRCh37 |
129 | 386 | |
ARFGEF1-DT | - | - | - | GRCh38 | - | 111 |
ARMC1 | - | - |
GRCh38 GRCh37 |
9 | 36 | |
ASPH | - | - |
GRCh38 GRCh37 |
160 | 202 | |
BHLHE22 | - | - |
GRCh38 GRCh37 |
2 | 56 | |
BHLHE22-AS1 | - | - | - | GRCh38 | - | 40 |
There are 409 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) |
|
Aug 12, 2011 | RCV000053654.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023