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 |
2038 | 2151 | |
IGF1R | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
984 | 1126 | |
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 |
499 | 540 | |
NR2F2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
116 | 174 | |
ZNF592 | No evidence available | No evidence available |
GRCh38 GRCh37 |
103 | 157 | |
ABHD17C | - | - |
GRCh38 GRCh37 |
7 | 37 | |
ABHD2 | - | - |
GRCh38 GRCh37 |
19 | 58 | |
ACAN | - | - |
GRCh38 GRCh37 |
1111 | 1145 | |
ACSBG1 | - | - |
GRCh38 GRCh37 |
45 | 80 |
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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Sep 10, 2012 | RCV000143019.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024