ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q22.1(chr8:96065893-97276981)x1
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 | |||
CPQ | - | - |
GRCh38 GRCh37 |
27 | 77 | |
GDF6 | - | - |
GRCh38 GRCh37 |
417 | 458 | |
LOC101927066 | - | - | - | GRCh38 | - | 52 |
LOC102724804 | - | - | - | GRCh38 | - | 15 |
LOC113788298 | - | - | - | GRCh38 | - | 15 |
LOC124174291 | - | - | - | GRCh38 | - | 15 |
LOC124174292 | - | - | - | GRCh38 | - | 15 |
LOC124174293 | - | - | - | GRCh38 | - | 15 |
LOC124174294 | - | - | - | GRCh38 | - | 15 |
LOC130000788 | - | - | - | GRCh38 | - | 15 |
There are 14 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000054279.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024