ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3
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 | |||
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 | |
RPS17 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
20 | 46 | |
NR2F2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
114 | 172 | |
ZNF592 | No evidence available | No evidence available |
GRCh38 GRCh37 |
103 | 157 | |
ABHD17C | - | - |
GRCh38 GRCh37 |
7 | 37 | |
ABHD2 | - | - |
GRCh38 GRCh37 |
19 | 57 | |
ACAN | - | - |
GRCh38 GRCh37 |
1103 | 1136 | |
ACSBG1 | - | - |
GRCh38 GRCh37 |
45 | 80 | |
ADAMTS17 | - | - |
GRCh38 GRCh37 |
1196 | 1309 |
There are 131 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) |
|
Nov 9, 2021 | RCV002475797.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023