ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3
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 | |||
NR4A2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
108 | 147 | |
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 | |
TBR1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
197 | 237 | |
SLC4A10 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
81 | 108 | |
ACVR1 | - | - |
GRCh38 GRCh37 |
306 | 328 | |
ACVR1C | - | - |
GRCh38 GRCh37 |
45 | 70 | |
BAZ2B | - | - |
GRCh38 GRCh37 |
136 | 189 | |
BAZ2B-AS1 | - | - | - | GRCh38 | - | 6 |
CCDC148 | - | - | - |
GRCh38 GRCh37 |
21 | 52 |
There are 267 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 | RCV000052950.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023