ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1(chr8:8764148-9456289)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
MFHAS1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
98 | 234 | |
ERI1 | - | - |
GRCh38 GRCh38 GRCh37 |
66 | 199 | |
LOC101929128 | - | - | - |
GRCh38 GRCh38 |
- | 62 |
LOC105379230 | - | - | - |
GRCh38 GRCh38 |
- | 62 |
LOC113788294 | - | - | - |
GRCh38 GRCh38 |
- | 60 |
LOC121268919 | - | - | - |
GRCh38 GRCh38 |
- | 62 |
LOC124049160 | - | - | - |
GRCh38 GRCh38 |
- | 59 |
LOC124049161 | - | - | - |
GRCh38 GRCh38 |
- | 60 |
LOC124049162 | - | - | - | GRCh38 | - | 62 |
LOC126860299 | - | - | - |
GRCh38 GRCh38 |
- | 62 |
There are 17 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
|
Uncertain significance (1) |
|
Aug 13, 2012 | RCV000143051.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024