ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q23-24(chr3:141751960-148246189)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 | |||
ATR | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
3525 | 3627 | |
ZIC1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
135 | 154 | |
ZIC4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
105 | 125 | |
ATP1B3 | - | - |
GRCh38 GRCh37 |
11 | 31 | |
CHST2 | - | - |
GRCh38 GRCh37 |
17 | 37 | |
DIPK2A | - | - |
GRCh38 GRCh37 |
- | 20 | |
GK5 | - | - |
GRCh38 GRCh37 |
13 | 34 | |
GRK7 | - | - |
GRCh38 GRCh37 |
41 | 61 | |
HLMR1 | - | - | - | GRCh38 | - | 9 |
LINC02010 | - | - | - | GRCh38 | - | 3 |
There are 99 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) |
|
Aug 12, 2011 | RCV000051575.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024