ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)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 | |||
NCKAP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
99 | 126 | |
CCDC141 | - | - |
GRCh38 GRCh37 |
309 | 357 | |
CERKL | - | - |
GRCh38 GRCh37 |
751 | 974 | |
CWC22 | - | - |
GRCh38 GRCh37 |
66 | 95 | |
DNAJC10 | - | - |
GRCh38 GRCh37 |
36 | 60 | |
DUSP19 | - | - |
GRCh38 GRCh37 |
15 | 43 | |
EPCART | - | - | - | GRCh38 | - | 12 |
FRZB | - | - |
GRCh38 GRCh37 |
31 | 55 | |
ITGA4 | - | - |
GRCh38 GRCh37 |
64 | 195 | |
ITPRID2 | - | - |
GRCh38 GRCh37 |
81 | 114 |
There are 96 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 | RCV000052560.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023