ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)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 |
1315 | 1500 | |
CTNND2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
284 | 396 | |
ANKH | No evidence available | No evidence available |
GRCh38 GRCh37 |
210 | 563 | |
ADAMTS16 | - | - |
GRCh38 GRCh37 |
89 | 211 | |
ADCY2 | - | - |
GRCh38 GRCh37 |
45 | 154 | |
ANKRD33B | - | - | - |
GRCh38 GRCh37 |
50 | 156 |
ATPSCKMT | - | - |
GRCh38 GRCh37 |
19 | 121 | |
BASP1 | - | - |
GRCh38 GRCh37 |
24 | 100 | |
CCT5 | - | - |
GRCh38 GRCh37 |
314 | 417 | |
CFAP90 | - | - | - |
GRCh38 GRCh37 |
- | 101 |
There are 25 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) |
|
- | RCV003986598.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024