ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q14-15.1(chr15:39710935-40294591)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 | |||
ANKRD63 | - | - | - |
GRCh38 GRCh37 |
15 | 26 |
BMF | - | - |
GRCh38 GRCh37 |
9 | 23 | |
BUB1B | - | - |
GRCh38 GRCh37 |
1479 | 1749 | |
BUB1B-PAK6 | - | - | - | GRCh38 | - | 282 |
EIF2AK4 | - | - |
GRCh38 GRCh37 |
382 | 415 | |
FSIP1 | - | - |
GRCh38 GRCh37 |
29 | 56 | |
GPR176 | - | - |
GRCh38 GRCh37 |
30 | 44 | |
GPR176-DT | - | - | - | GRCh38 | - | 2 |
LOC105370787 | - | - | - | GRCh38 | - | 2 |
LOC105370941 | - | - | - | GRCh38 | - | 2 |
There are 39 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 | RCV000052105.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023