ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3
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 | |||
SPAST | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1285 | 1350 | |
DNMT3A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
640 | 685 | |
ALK | No evidence available | No evidence available |
GRCh38 GRCh37 |
4833 | 4870 | |
ASXL2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
439 | 466 | |
DHX57 | - | No evidence available | No evidence available |
GRCh38 GRCh37 |
66 | 92 |
SOS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1590 | 1690 | |
ABHD1 | - | - |
GRCh38 GRCh37 |
18 | 38 | |
ADCY3 | - | - |
GRCh38 GRCh37 |
206 | 262 | |
ADGRF3 | - | - | - |
GRCh38 GRCh37 |
52 | 73 |
AGBL5 | - | - |
GRCh38 GRCh37 |
653 | 672 |
There are 123 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) |
|
Apr 1, 2021 | RCV001532444.14 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024