ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3
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 | |||
CLNK | No evidence available | No evidence available |
GRCh38 GRCh37 |
34 | 109 | |
DRD5 | No evidence available | No evidence available |
GRCh38 GRCh37 |
2 | 133 | |
ABLIM2 | - | - |
GRCh38 GRCh37 |
56 | 130 | |
ACOX3 | - | - |
GRCh38 GRCh37 |
83 | 165 | |
AFAP1 | - | - |
GRCh38 GRCh37 |
41 | 146 | |
BLOC1S4 | - | - |
GRCh38 GRCh37 |
17 | 99 | |
BOD1L1 | - | - |
GRCh38 GRCh37 |
197 | 261 | |
BST1 | - | - |
GRCh38 GRCh37 |
28 | 79 | |
C1QTNF7 | - | - | - |
GRCh38 GRCh37 |
18 | 71 |
CC2D2A | - | - |
GRCh38 GRCh37 |
2008 | 2062 |
There are 63 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) |
|
Jan 20, 2016 | RCV000240007.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022