ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)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 | |||
NAA15 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
372 | 416 | |
C4orf33 | - | - | - |
GRCh38 GRCh37 |
3 | 35 |
CLGN | - | - |
GRCh38 GRCh37 |
36 | 70 | |
ELF2 | - | - |
GRCh38 GRCh37 |
18 | 52 | |
ELMOD2 | - | - |
GRCh38 GRCh37 |
30 | 63 | |
IL15 | - | - |
GRCh38 GRCh37 |
10 | 42 | |
INPP4B | - | - |
GRCh38 GRCh37 |
43 | 74 | |
JADE1 | - | - |
GRCh38 GRCh37 |
36 | 67 | |
LARP1B | - | - |
GRCh38 GRCh37 |
56 | 90 | |
LINC00498 | - | - | - | GRCh38 | - | 9 |
There are 177 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051056.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024