ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)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 | |||
IGF1R | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
979 | 1120 | |
ADAMTS17 | - | - |
GRCh38 GRCh37 |
1196 | 1309 | |
ALDH1A3 | - | - |
GRCh38 GRCh37 |
35 | 223 | |
ALDH1A3-AS1 | - | - | - | GRCh38 | - | 133 |
ARRDC4 | - | - |
GRCh38 GRCh37 |
24 | 93 | |
ASB7 | - | - |
GRCh38 GRCh37 |
12 | 108 | |
CERS3 | - | - |
GRCh38 GRCh37 |
81 | 198 | |
CERS3-AS1 | - | - | - | GRCh38 | - | 48 |
CHSY1 | - | - |
GRCh38 GRCh37 |
182 | 322 | |
GCAWKR | - | - | - | GRCh38 | - | 36 |
There are 163 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
|
Pathogenic (1) |
|
Jun 22, 2015 | RCV000139666.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024