ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)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 | |||
CHD2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2050 | 2164 | |
IGF1R | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
999 | 1141 | |
RPS17 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
20 | 46 | |
SIN3A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
514 | 555 | |
NR2F2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
117 | 175 | |
ZNF592 | No evidence available | No evidence available |
GRCh38 GRCh37 |
112 | 166 | |
ABHD17C | - | - |
GRCh38 GRCh37 |
7 | 37 | |
ABHD2 | - | - |
GRCh38 GRCh37 |
21 | 60 | |
ACAN | - | - |
GRCh38 GRCh37 |
1127 | 1161 | |
ACSBG1 | - | - |
GRCh38 GRCh37 |
50 | 85 |
There are 207 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 12, 2018 | RCV000683703.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023