ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.12(chr19:35516999-35990896)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 | |||
SCN1B | No evidence available | No evidence available |
GRCh38 GRCh37 |
570 | 590 | |
CD22 | - | - |
GRCh38 GRCh37 |
54 | 78 | |
DMKN | - | - |
GRCh38 GRCh37 |
7 | 25 | |
FAM187B | - | - | - |
GRCh38 GRCh37 |
36 | 55 |
FFAR1 | - | - |
GRCh38 GRCh37 |
19 | 38 | |
FFAR2 | - | - |
GRCh38 GRCh37 |
30 | 47 | |
FFAR3 | - | - |
GRCh38 GRCh37 |
34 | 53 | |
FXYD1 | - | - |
GRCh38 GRCh37 |
2 | 21 | |
FXYD3 | - | - |
GRCh38 GRCh37 |
14 | 35 | |
FXYD5 | - | - |
GRCh38 GRCh37 |
9 | 33 |
There are 10 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 20, 2015 | RCV000207175.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024