ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p16.1-15.32(chr4:9577432-16223471)x3
Germline
Classification
(1)
Likely 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 | |||
CLNK | No evidence available | No evidence available |
GRCh38 GRCh37 |
41 | 117 | |
DRD5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 138 | |
BOD1L1 | - | - |
GRCh38 GRCh37 |
216 | 281 | |
BST1 | - | - |
GRCh38 GRCh37 |
30 | 81 | |
C1QTNF7 | - | - | - |
GRCh38 GRCh37 |
19 | 72 |
CC2D2A | - | - |
GRCh38 GRCh37 |
2030 | 2084 | |
CD38 | - | - |
GRCh38 GRCh37 |
18 | 71 | |
CPEB2 | - | - |
GRCh38 GRCh38 GRCh37 |
33 | 145 | |
FAM200B | - | - | - |
GRCh38 GRCh37 |
- | 56 |
FBXL5 | - | - |
GRCh38 GRCh37 |
25 | 83 |
There are 10 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jun 24, 2020 | RCV001834299.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022