ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)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 | |||
ADAL | - | - |
GRCh38 GRCh37 |
10 | 37 | |
CCNDBP1 | - | - |
GRCh38 GRCh37 |
10 | 32 | |
EPB42 | - | - |
GRCh38 GRCh37 |
186 | 208 | |
LCMT2 | - | - |
GRCh38 GRCh37 |
45 | 72 | |
LOC125078066 | - | - | - | GRCh38 | - | 2 |
LOC125078067 | - | - | - | GRCh38 | - | 2 |
LOC130056934 | - | - | - | GRCh38 | - | 2 |
LOC130056935 | - | - | - | GRCh38 | - | 11 |
LOC130056936 | - | - | - | GRCh38 | - | 25 |
LOC130056937 | - | - | - | GRCh38 | - | 2 |
There are 10 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) |
|
Dec 3, 2013 | RCV000142222.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023