ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.3(chr19:1816218-2152190)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
ABHD17A | - | - |
GRCh38 GRCh37 |
19 | 53 | |
ADAT3 | - | - |
GRCh38 GRCh37 |
- | 141 | |
AP3D1 | - | - |
GRCh38 GRCh37 |
1141 | 1178 | |
BTBD2 | - | - |
GRCh38 GRCh37 |
32 | 76 | |
CSNK1G2 | - | - |
GRCh38 GRCh37 |
14 | 52 | |
IZUMO4 | - | - |
GRCh38 GRCh37 |
14 | 45 | |
KLF16 | - | - |
GRCh38 GRCh37 |
11 | 54 | |
MIR1909 | - | - |
GRCh38 GRCh37 |
- | 35 | |
MKNK2 | - | - |
GRCh38 GRCh37 |
22 | 58 | |
MOB3A | - | - | - |
GRCh38 GRCh37 |
17 | 49 |
There are 2 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 26, 2017 | RCV000849885.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022