ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q26.1-26.3(chr15:93148806-102429112)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 |
2029 | 2142 | |
IGF1R | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
976 | 1117 | |
NR2F2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
114 | 172 | |
ADAMTS17 | - | - |
GRCh38 GRCh37 |
1196 | 1309 | |
ALDH1A3 | - | - |
GRCh38 GRCh37 |
35 | 223 | |
ARRDC4 | - | - |
GRCh38 GRCh37 |
24 | 93 | |
ASB7 | - | - |
GRCh38 GRCh37 |
12 | 108 | |
CERS3 | - | - |
GRCh38 GRCh37 |
81 | 198 | |
CHSY1 | - | - |
GRCh38 GRCh37 |
182 | 322 | |
FAM174B | - | - | - |
GRCh38 GRCh37 |
2 | 45 |
There are 18 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) |
|
Jul 18, 2014 | RCV000511719.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024