ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3
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 | |||
CHD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2026 | 2142 | |
IGF1R | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
969 | 1110 | |
NR2F2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
113 | 173 | |
ADAMTS17 | - | - |
GRCh38 GRCh37 |
1188 | 1304 | |
ALDH1A3 | - | - |
GRCh38 GRCh37 |
36 | 221 | |
ANPEP | - | - |
GRCh38 GRCh37 |
48 | 104 | |
AP3S2 | - | - |
GRCh38 GRCh37 |
- | 52 | |
ARPIN | - | - |
GRCh38 GRCh37 |
- | 61 | |
ARPIN-AP3S2 | - | - | - |
GRCh38 GRCh37 |
- | 65 |
ARRDC4 | - | - |
GRCh38 GRCh37 |
19 | 90 |
There are 46 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) |
|
Oct 26, 2017 | RCV000846885.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023