ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q31.2(chr5:137754277-138994590)x1
Germline
Classification
(1)
Likely 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 | |||
CTNNA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2875 | 2934 | |
DNAJC18 | - | - | - |
GRCh38 GRCh38 GRCh37 |
21 | 50 |
ECSCR | - | - |
GRCh38 GRCh38 GRCh37 |
1 | 30 | |
EGR1 | - | - |
GRCh38 GRCh37 |
11 | 33 | |
ETF1 | - | - |
GRCh38 GRCh37 |
1 | 19 | |
HSPA9 | - | - |
GRCh38 GRCh37 |
61 | 80 | |
KDM3B | - | - |
GRCh38 GRCh37 |
246 | 281 | |
LRRTM2 | - | - |
GRCh38 GRCh37 |
- | 49 | |
MATR3 | - | - |
GRCh38 GRCh37 |
426 | 549 | |
MZB1 | - | - |
GRCh38 GRCh37 |
10 | 42 |
There are 9 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Sep 4, 2019 | RCV001270645.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023