ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)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 |
2048 | 2162 | |
IGF1R | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
996 | 1138 | |
NR2F2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
117 | 175 | |
ABHD2 | - | - |
GRCh38 GRCh37 |
21 | 60 | |
ACAN | - | - |
GRCh38 GRCh37 |
1123 | 1157 | |
ADAMTS17 | - | - |
GRCh38 GRCh37 |
1209 | 1323 | |
AEN | - | - |
GRCh38 GRCh37 |
30 | 61 | |
AGBL1 | - | - |
GRCh38 GRCh37 |
136 | 172 | |
AKAP13 | - | - |
GRCh38 GRCh37 |
210 | 257 | |
ALDH1A3 | - | - |
GRCh38 GRCh37 |
36 | 226 |
There are 71 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) |
|
- | RCV000448044.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024