ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p21.1-15.3(chr7:19145712-22193713)x1
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 | |||
ABCB5 | - | - |
GRCh38 GRCh37 |
81 | 118 | |
CDCA7L | - | - |
GRCh38 GRCh37 |
26 | 202 | |
DNAH11 | - | - |
GRCh38 GRCh37 |
5328 | 5707 | |
GIRGL | - | - | - | GRCh38 | - | 17 |
ITGB8 | - | - |
GRCh38 GRCh37 |
37 | 74 | |
ITGB8-AS1 | - | - | - | GRCh38 | - | 17 |
LINC01162 | - | - | - | GRCh38 | - | 16 |
LOC101927668 | - | - | - | GRCh38 | - | 16 |
LOC101927769 | - | - | - | GRCh38 | - | 17 |
LOC105375181 | - | - | - | GRCh38 | - | 16 |
There are 68 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 14, 2010 | RCV000136842.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024