ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)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 | |||
CIC | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
605 | 622 | |
ERF | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
209 | 223 | |
ATP1A3 | - | - |
GRCh38 GRCh37 |
1142 | 1163 | |
CEACAM1 | - | - |
GRCh38 GRCh37 |
- | 21 | |
CEACAM8 | - | - |
GRCh38 GRCh37 |
- | 40 | |
CNFN | - | - |
GRCh38 GRCh37 |
1 | 14 | |
CXCL17 | - | - |
GRCh38 GRCh37 |
- | 13 | |
DEDD2 | - | - |
GRCh38 GRCh37 |
20 | 37 | |
GRIK5 | - | - |
GRCh38 GRCh37 |
76 | 88 | |
GSK3A | - | - |
GRCh38 GRCh37 |
9 | 32 |
There are 87 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053975.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024