ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)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 |
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 | |
ADCY2 | - | - |
GRCh38 GRCh37 |
43 | 152 | |
ANKRD33B | - | - | - |
GRCh38 GRCh37 |
45 | 151 |
ATPSCKMT | - | - |
GRCh38 GRCh37 |
15 | 117 | |
BASP1 | - | - |
GRCh38 GRCh37 |
22 | 98 | |
CCT5 | - | - |
GRCh38 GRCh37 |
310 | 413 | |
CDH10 | - | - |
GRCh38 GRCh37 |
37 | 93 |
There are 30 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003986556.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024