ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
AP1M2 | - | - |
GRCh38 GRCh37 |
25 | 44 | |
ATG4D | - | - |
GRCh38 GRCh37 |
38 | 60 | |
C19orf38 | - | - | - |
GRCh38 GRCh37 |
1 | 23 |
CARM1 | - | - |
GRCh38 GRCh37 |
14 | 39 | |
CDC37 | - | - |
GRCh38 GRCh37 |
16 | 30 | |
CDKN2D | - | - |
GRCh38 GRCh37 |
7 | 28 | |
DNM2 | - | - |
GRCh38 GRCh37 |
1122 | 1213 | |
DNMT1 | - | - |
GRCh38 GRCh37 |
1272 | 1412 | |
FDX2 | - | - |
GRCh38 GRCh37 |
6 | 145 | |
ICAM1 | - | - |
GRCh38 GRCh37 |
42 | 58 |
There are 19 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV000446752.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024