ClinVar Genomic variation as it relates to human health
t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)
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 | |||
SPAST | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1287 | 1353 | |
ALK | No evidence available | No evidence available |
GRCh38 GRCh37 |
4980 | 5018 | |
DHX57 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
92 | 118 |
SOS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1614 | 1715 | |
ARHGEF33 | - | - | - |
GRCh38 GRCh37 |
36 | 75 |
ATL2 | - | - |
GRCh38 GRCh37 |
30 | 60 | |
BIRC6 | - | - |
GRCh38 GRCh37 |
289 | 340 | |
CAPN13 | - | - |
GRCh38 GRCh37 |
51 | 74 | |
CAPN14 | - | - |
GRCh38 GRCh37 |
58 | 86 | |
CDC42EP3 | - | - |
GRCh38 GRCh37 |
19 | 40 |
There are 44 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) |
|
- | RCV000576833.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022