ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1
Germline
Classification
(1)
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 | |||
TRIO | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1223 | 1401 | |
CTNND2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
271 | 383 | |
ANKH | No evidence available | No evidence available |
GRCh38 GRCh37 |
207 | 556 | |
ADAMTS16 | - | - |
GRCh38 GRCh37 |
81 | 201 | |
ADAMTS16-DT | - | - | - | GRCh38 | - | 48 |
ADCY2 | - | - |
GRCh38 GRCh37 |
43 | 152 | |
ANKRD33B | - | - | - |
GRCh38 GRCh37 |
45 | 151 |
ATPSCKMT | - | - |
GRCh38 GRCh37 |
15 | 117 | |
BASP1 | - | - |
GRCh38 GRCh37 |
22 | 98 | |
BASP1-AS1 | - | - | - | GRCh38 | - | 30 |
There are 296 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) |
|
Jun 4, 2013 | RCV000141795.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024