ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3
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 | |||
CHD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2029 | 2142 | |
IGF1R | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
970 | 1111 | |
NR2F2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
112 | 170 | |
ADAMTS17 | - | - |
GRCh38 GRCh37 |
1184 | 1297 | |
ALDH1A3 | - | - |
GRCh38 GRCh37 |
34 | 218 | |
ALDH1A3-AS1 | - | - | - | GRCh38 | - | 129 |
ANPEP | - | - |
GRCh38 GRCh37 |
48 | 101 | |
AP3S2 | - | - |
GRCh38 GRCh37 |
- | 48 | |
ARPIN | - | - |
GRCh38 GRCh37 |
- | 57 | |
ARPIN-AP3S2 | - | - | - |
GRCh38 GRCh37 |
- | 61 |
There are 414 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) |
|
Aug 12, 2011 | RCV000052354.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023