ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930)
Germline
Classification
(1)
Uncertain significance
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 | |
CLGN | - | - |
GRCh38 GRCh37 |
36 | 70 | |
ELF2 | - | - |
GRCh38 GRCh37 |
18 | 52 | |
ELMOD2 | - | - |
GRCh38 GRCh37 |
30 | 63 | |
FREM3 | - | - |
GRCh38 GRCh37 |
152 | 183 | |
GAB1 | - | - |
GRCh38 GRCh37 |
33 | 79 | |
IL15 | - | - |
GRCh38 GRCh37 |
10 | 42 | |
INPP4B | - | - |
GRCh38 GRCh37 |
43 | 74 | |
MAML3 | - | - |
GRCh38 GRCh37 |
23 | 57 | |
MGARP | - | - |
GRCh38 GRCh37 |
5 | 48 |
There are 15 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053457.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022