ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)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 |
2026 | 2142 | |
IGF1R | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
969 | 1110 | |
RPS17 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
19 | 47 | |
SIN3A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
482 | 525 | |
NR2F2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
113 | 173 | |
ZNF592 | No evidence available | No evidence available |
GRCh38 GRCh37 |
78 | 135 | |
ABHD17C | - | - |
GRCh38 GRCh37 |
3 | 35 | |
ABHD2 | - | - |
GRCh38 GRCh37 |
15 | 56 | |
ACAN | - | - |
GRCh38 GRCh37 |
1059 | 1095 | |
ACSBG1 | - | - |
GRCh38 GRCh37 |
33 | 70 |
There are 1236 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 10, 2012 | RCV000143019.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023