ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q26.2-26.3(chr15:94836128-101302111)
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |
NR2F2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
115 | 173 | |
ADAMTS17 | - | - |
GRCh38 GRCh37 |
1196 | 1309 | |
ARRDC4 | - | - |
GRCh38 GRCh37 |
24 | 93 | |
ASB7 | - | - |
GRCh38 GRCh37 |
12 | 108 | |
CERS3 | - | - |
GRCh38 GRCh37 |
81 | 198 | |
LINS1 | - | - |
GRCh38 GRCh37 |
183 | 281 | |
LRRC28 | - | - | - |
GRCh38 GRCh37 |
17 | 114 |
LYSMD4 | - | - | - |
GRCh38 GRCh37 |
17 | 99 |
MCTP2 | - | - |
GRCh38 GRCh37 |
145 | 190 |
There are 5 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) |
|
Mar 1, 2022 | RCV002052489.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022