ClinVar Genomic variation as it relates to human health
GRCh38/hg38 15q14(chr15:34588015-39280404)x1
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 | |||
MEIS2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
136 | 157 | |
SPRED1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
793 | 823 | |
ACTC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3 | 753 | |
AQR | - | - |
GRCh38 GRCh37 |
28 | 49 | |
CDIN1 | - | - |
GRCh38 GRCh37 |
94 | 115 | |
DPH6 | - | - |
GRCh38 GRCh37 |
13 | 35 | |
DPH6-DT | - | - | - | GRCh38 | 1 | 8 |
FAM98B | - | - |
GRCh38 GRCh37 |
12 | 33 | |
GJD2 | - | - |
GRCh38 GRCh37 |
10 | 33 | |
GJD2-DT | - | - | - | GRCh38 | - | 734 |
There are 91 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) |
|
Aug 12, 2011 | RCV000051618.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023