ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)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 | |||
SIN3A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
485 | 525 | |
ACSBG1 | - | - |
GRCh38 GRCh37 |
33 | 68 | |
ADPGK | - | - |
GRCh38 GRCh37 |
13 | 55 | |
ADPGK-AS1 | - | - | - | GRCh38 | - | 13 |
ARID3B | - | - |
GRCh38 GRCh37 |
19 | 58 | |
ARIH1 | - | - |
GRCh38 GRCh37 |
183 | 209 | |
BBS4 | - | - |
GRCh38 GRCh37 |
717 | 757 | |
C15orf39 | - | - | - |
GRCh38 GRCh37 |
18 | 60 |
CCDC33 | - | - |
GRCh38 GRCh38 GRCh37 |
41 | 96 | |
CD276 | - | - |
GRCh38 GRCh37 |
35 | 70 |
There are 479 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 22, 2015 | RCV000141666.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023