ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1
Germline
Classification
(1)
Likely 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 | |||
STARD9 | No evidence available | Not yet evaluated |
GRCh38 GRCh37 |
367 | - | |
PPIP5K1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
18 | 45 | |
ADAL | - | - |
GRCh38 GRCh37 |
- | - | |
CATSPER2 | - | - |
GRCh38 GRCh37 |
47 | 107 | |
CCNDBP1 | - | - |
GRCh38 GRCh37 |
- | - | |
CDAN1 | - | - |
GRCh38 GRCh37 |
534 | 606 | |
CKMT1A | - | - |
GRCh38 GRCh37 |
6 | 33 | |
CKMT1B | - | - |
GRCh38 GRCh37 |
8 | 46 | |
ELL3 | - | - |
GRCh38 GRCh37 |
17 | 33 | |
EPB42 | - | - |
GRCh38 GRCh37 |
186 | 208 |
There are 61 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 4, 2011 | RCV000137921.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023