ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q15.1(chr15:41865122-42329484)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
EHD4 | - | - |
GRCh38 GRCh37 |
31 | 46 | |
EHD4-AS1 | - | - | - | GRCh38 | - | 2 |
GANC | - | - |
GRCh38 GRCh37 |
41 | 59 | |
LOC105370792 | - | - | - | GRCh38 | - | 21 |
LOC112272590 | - | - | - | GRCh38 | - | 2 |
LOC125078065 | - | - | - | GRCh38 | - | 4 |
LOC126862114 | - | - | - | GRCh38 | - | 2 |
LOC130056904 | - | - | - | GRCh38 | - | 3 |
LOC130056905 | - | - | - | GRCh38 | - | 2 |
LOC130056906 | - | - | - | GRCh38 | - | 2 |
There are 23 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
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000051140.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024