ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q26.2-26.3(chr15:97783828-100780256)x3
Germline
Classification
(1)
Likely 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 |
999 | 1141 | |
ADAMTS17 | - | - |
GRCh38 GRCh37 |
1209 | 1323 | |
ARRDC4 | - | - |
GRCh38 GRCh37 |
29 | 98 | |
ASB7 | - | - |
GRCh38 GRCh37 |
14 | 111 | |
CERS3 | - | - |
GRCh38 GRCh37 |
85 | 203 | |
CERS3-AS1 | - | - | - | GRCh38 | - | 48 |
IRAIN | - | - | GRCh38 | - | 54 | |
LINC00923 | - | - | - | GRCh38 | - | 24 |
LINC01582 | - | - | - | GRCh38 | - | 27 |
LINC02244 | - | - | - | GRCh38 | - | 34 |
There are 103 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Apr 8, 2011 | RCV000137352.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024