ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5p15.2-15.1(chr5:10515035-17607385)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 |
1259 | 1442 | |
CTNND2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
279 | 391 | |
ANKH | No evidence available | No evidence available |
GRCh38 GRCh37 |
208 | 559 | |
ANKRD33B | - | - | - |
GRCh38 GRCh37 |
50 | 156 |
BASP1 | - | - |
GRCh38 GRCh37 |
24 | 100 | |
DAP | - | - |
GRCh38 GRCh37 |
8 | 114 | |
DNAH5 | - | - |
GRCh38 GRCh37 |
5624 | 5870 | |
FBXL7 | - | - |
GRCh38 GRCh37 |
13 | 114 | |
LINC01194 | - | - |
GRCh38 GRCh37 |
4 | 103 | |
MARCHF11 | - | - |
GRCh38 GRCh37 |
36 | 115 |
There are 6 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) |
|
Apr 14, 2018 | RCV000682524.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022