ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3
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 |
1303 | 1370 | |
ALK | No evidence available | No evidence available |
GRCh38 GRCh37 |
5018 | 5058 | |
DHX57 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
92 | 118 |
SOS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1622 | 1725 | |
ARHGEF33 | - | - | - |
GRCh38 GRCh37 |
36 | 75 |
ATL2 | - | - |
GRCh38 GRCh37 |
30 | 60 | |
BABAM2 | - | - |
GRCh38 GRCh37 |
19 | 42 | |
BIRC6 | - | - |
GRCh38 GRCh37 |
289 | 340 | |
CAPN13 | - | - |
GRCh38 GRCh37 |
51 | 74 | |
CAPN14 | - | - |
GRCh38 GRCh37 |
58 | 86 |
There are 62 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV000447397.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024