ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)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 | |||
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 | |
ALDH1A3-AS1 | - | - | - | GRCh38 | - | 128 |
ARRDC4 | - | - |
GRCh38 GRCh37 |
19 | 90 | |
ASB7 | - | - |
GRCh38 GRCh37 |
11 | 109 | |
CERS3 | - | - |
GRCh38 GRCh37 |
75 | 194 | |
CERS3-AS1 | - | - | - | GRCh38 | - | 47 |
CHSY1 | - | - |
GRCh38 GRCh37 |
177 | 317 |
There are 220 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) |
|
Apr 30, 2011 | RCV000141431.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023