ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1(chr8:8253505-9758024)x1
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 | |
CLDN23 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 154 | |
ERI1 | - | - |
GRCh38 GRCh38 GRCh37 |
66 | 199 | |
LINC02949 | - | - | - |
GRCh38 GRCh38 |
- | 56 |
LINC02950 | - | - | - |
GRCh38 GRCh38 |
- | 55 |
LOC101929128 | - | - | - |
GRCh38 GRCh38 |
- | 62 |
LOC105379224 | - | - | - |
GRCh38 GRCh38 |
- | 58 |
LOC105379230 | - | - | - |
GRCh38 GRCh38 |
- | 62 |
LOC113788294 | - | - | - |
GRCh38 GRCh38 |
- | 60 |
LOC121268919 | - | - | - |
GRCh38 GRCh38 |
- | 62 |
There are 57 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) |
|
Jun 1, 2012 | RCV000139792.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024