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 |
2197 | 4550 | |
SCN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2534 | 2609 | |
SLC4A10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
87 | 113 | |
DLX1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
8 | 31 | |
DLX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
19 | 41 | |
SLC25A12 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
486 | 512 | |
ABCB11 | - | - |
GRCh38 GRCh38 GRCh37 |
1467 | 1569 | |
B3GALT1 | - | - |
GRCh38 GRCh37 |
1 | 41 | |
BBS5 | - | - |
GRCh38 GRCh37 |
333 | 389 | |
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