ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)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 |
2178 | 4521 | |
SCN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2522 | 2597 | |
DLX1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
8 | 31 | |
SLC25A12 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
486 | 512 | |
ABCB11 | - | - |
GRCh38 GRCh38 GRCh37 |
1449 | 1548 | |
B3GALT1 | - | - |
GRCh38 GRCh37 |
1 | 41 | |
B3GALT1-AS1 | - | - | - | GRCh38 | - | 20 |
BBS5 | - | - |
GRCh38 GRCh37 |
329 | 385 | |
CERS6 | - | - |
GRCh38 GRCh37 |
18 | 36 | |
CERS6-AS1 | - | - | - | GRCh38 | - | 5 |
There are 154 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000054123.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023