ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)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 | |||
DNAJC21 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
329 | 386 | |
ADAMTS12 | - | - |
GRCh38 GRCh38 GRCh37 |
79 | 141 | |
AGXT2 | - | - |
GRCh38 GRCh37 |
42 | 69 | |
AMACR | - | - |
GRCh38 GRCh37 |
2 | 435 | |
BRIX1 | - | - |
GRCh38 GRCh37 |
- | 46 | |
C1QTNF3 | - | - |
GRCh38 GRCh37 |
- | 53 | |
C1QTNF3-AMACR | - | - | - | GRCh38 | - | 419 |
C5orf22 | - | - | - |
GRCh38 GRCh37 |
1 | 35 |
CDH6 | - | - |
GRCh38 GRCh37 |
22 | 56 | |
DROSHA | - | - |
GRCh38 GRCh37 |
100 | 135 |
There are 108 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 | RCV000053449.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024