ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)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 | |||
TRIO | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1259 | 1442 | |
ANKH | No evidence available | No evidence available |
GRCh38 GRCh37 |
208 | 559 | |
BASP1 | - | - |
GRCh38 GRCh37 |
24 | 100 | |
BASP1-AS1 | - | - | - | GRCh38 | - | 30 |
CDH12 | - | - |
GRCh38 GRCh37 |
80 | 153 | |
CDH18 | - | - |
GRCh38 GRCh37 |
60 | 132 | |
CDH18-AS1 | - | - | - | GRCh38 | - | 27 |
CTD-2350J17.1 | - | - | - | GRCh38 | - | 38 |
DNAH5 | - | - |
GRCh38 GRCh37 |
5624 | 5870 | |
FBXL7 | - | - |
GRCh38 GRCh37 |
13 | 114 |
There are 134 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 | RCV000053447.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023