ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1
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 |
2208 | 4573 | |
SCN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2554 | 2629 | |
SLC4A10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
95 | 121 | |
DLX1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
11 | 34 | |
DLX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
20 | 42 | |
SLC25A12 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
488 | 514 | |
ABCB11 | - | - |
GRCh38 GRCh38 GRCh37 |
1484 | 1586 | |
B3GALT1 | - | - |
GRCh38 GRCh37 |
1 | 42 | |
BBS5 | - | - |
GRCh38 GRCh37 |
334 | 390 | |
CDCA7 | - | - |
GRCh38 GRCh37 |
224 | 249 |
There are 49 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) |
|
- | RCV003986346.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024