ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)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 | |||
CHD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2038 | 2151 | |
IGF1R | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
984 | 1126 | |
NR2F2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
116 | 174 | |
ABHD2 | - | - |
GRCh38 GRCh37 |
19 | 58 | |
ACAN | - | - |
GRCh38 GRCh37 |
1111 | 1145 | |
ADAMTS17 | - | - |
GRCh38 GRCh37 |
1203 | 1317 | |
AEN | - | - |
GRCh38 GRCh37 |
25 | 56 | |
AGBL1 | - | - |
GRCh38 GRCh37 |
121 | 157 | |
ALDH1A3 | - | - |
GRCh38 GRCh37 |
35 | 224 | |
ANPEP | - | - |
GRCh38 GRCh37 |
58 | 114 |
There are 69 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2020 | RCV001263026.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023