ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q26.1(chr15:92900864-93043584)x1
Germline
Classification
(1)
Likely 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 | |
LOC126862227 | - | - | - | GRCh38 | - | 13 |
LOC126862228 | - | - | - | GRCh38 | - | 12 |
LOC126862229 | - | - | - | GRCh38 | - | 12 |
LOC126862230 | - | - | - | GRCh38 | - | 79 |
LOC130057987 | - | - | - | GRCh38 | - | 12 |
LOC130057988 | - | - | - | GRCh38 | - | 12 |
MIR3175 | - | - | - | GRCh38 | - | 12 |
RGMA | - | - |
GRCh38 GRCh37 |
42 | 88 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Sep 1, 2017 | RCV000139809.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024