ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)
Germline
Classification
(1)
Pathogenic
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 | |||
ZNF592 | No evidence available | No evidence available |
GRCh38 GRCh37 |
103 | 157 | |
ABHD2 | - | - |
GRCh38 GRCh37 |
19 | 57 | |
ACAN | - | - |
GRCh38 GRCh37 |
1106 | 1139 | |
ADAMTSL3 | - | - |
GRCh38 GRCh38 GRCh37 |
197 | 239 | |
AEN | - | - |
GRCh38 GRCh37 |
25 | 56 | |
AGBL1 | - | - |
GRCh38 GRCh37 |
120 | 156 | |
AKAP13 | - | - |
GRCh38 GRCh37 |
188 | 231 | |
ALPK3 | - | - |
GRCh38 GRCh37 |
2292 | 2420 | |
ANPEP | - | - |
GRCh38 GRCh37 |
58 | 113 | |
AP3S2 | - | - |
GRCh38 GRCh37 |
- | 52 |
There are 50 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767759.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023