ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1
Germline
Classification
(1)
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 | |||
NAA15 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
372 | 416 | |
ABCE1 | - | - |
GRCh38 GRCh37 |
12 | 42 | |
ANAPC10 | - | - |
GRCh38 GRCh37 |
10 | 42 | |
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 | |
GYPA | - | - |
GRCh38 GRCh37 |
12 | 43 | |
GYPB | - | - |
GRCh38 GRCh37 |
5 | 35 |
There are 20 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) |
|
Sep 27, 2018 | RCV001005600.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022