ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)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 | |||
MAP3K1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
197 | 302 | |
PDE4D | No evidence available | No evidence available |
GRCh38 GRCh37 |
536 | 563 | |
ACTBL2 | - | - |
GRCh38 GRCh37 |
3 | 48 | |
ANKRD55 | - | - |
GRCh38 GRCh37 |
49 | 61 | |
ARL15 | - | - | - |
GRCh38 GRCh37 |
13 | 34 |
C5orf67 | - | - | - | GRCh38 | - | 3 |
CCNO | - | - |
GRCh38 GRCh37 |
161 | 199 | |
CCNO-DT | - | - | - | GRCh38 | - | 71 |
CDC20B | - | - |
GRCh38 GRCh37 |
32 | 57 | |
CREST1 | - | - | - | GRCh38 | - | 5 |
There are 261 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000050797.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024