ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_235275379)_(236899040_?)del
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 | |||
ACTN2 | - | - |
GRCh38 GRCh37 |
1492 | 1557 | |
ARID4B | - | - |
GRCh38 GRCh37 |
64 | 121 | |
B3GALNT2 | - | - |
GRCh38 GRCh38 GRCh37 |
445 | 668 | |
EDARADD | - | - |
GRCh38 GRCh37 |
165 | 229 | |
ERO1B | - | - |
GRCh38 GRCh37 |
35 | 100 | |
GGPS1 | - | - |
GRCh38 GRCh37 |
17 | 72 | |
GNG4 | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 70 | |
GPR137B | - | - |
GRCh38 GRCh37 |
22 | 88 | |
HEATR1 | - | - |
GRCh38 GRCh37 |
153 | 219 | |
LGALS8 | - | - |
GRCh38 GRCh37 |
23 | 89 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 25, 2023 | RCV004583900.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024