ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q24.2-24.3(chr2:161551326-167762790)
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 | |||
SCN1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2233 | 4618 | |
SCN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2600 | 2675 | |
TBR1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
227 | 268 | |
SLC4A10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
100 | 126 | |
COBLL1 | - | - |
GRCh38 GRCh37 |
78 | 108 | |
CSRNP3 | - | - | - |
GRCh38 GRCh37 |
36 | 100 |
DPP4 | - | - |
GRCh38 GRCh37 |
63 | 86 | |
FAP | - | - |
GRCh38 GRCh37 |
50 | 78 | |
FIGN | - | - |
GRCh38 GRCh37 |
42 | 66 | |
GALNT3 | - | - |
GRCh38 GRCh37 |
433 | 496 |
There are 13 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) |
|
Mar 1, 2022 | RCV002053257.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022