ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)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 | |||
HOXD13 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
116 | 154 | |
SCN1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2181 | 4506 | |
SCN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2507 | 2583 | |
TTN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
11660 | 30937 | |
DLX1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
6 | 31 | |
DLX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
14 | 38 | |
EVX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
33 | 66 | |
HOXD9 | No evidence available | No evidence available |
GRCh38 GRCh37 |
21 | 58 | |
SLC25A12 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
481 | 509 | |
ABCB11 | - | - |
GRCh38 GRCh38 GRCh37 |
1428 | 1528 |
There are 480 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 | RCV000054122.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023