ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.3(chr19:4182912-4633772)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 | |||
ANKRD24 | - | - | - |
GRCh38 GRCh37 |
91 | 117 |
CHAF1A | - | - |
GRCh38 GRCh37 |
73 | 134 | |
EBI3 | - | - |
GRCh38 GRCh37 |
28 | 53 | |
FSD1 | - | - |
GRCh38 GRCh37 |
45 | 69 | |
LRG1 | - | - |
GRCh38 GRCh37 |
34 | 58 | |
MPND | - | - | - |
GRCh38 GRCh37 |
50 | 75 |
PLIN4 | - | - |
GRCh38 GRCh37 |
181 | 205 | |
PLIN5 | - | - |
GRCh38 GRCh37 |
63 | 87 | |
SEMA6B | - | - |
GRCh38 GRCh37 |
179 | 204 | |
SH3GL1 | - | - |
GRCh38 GRCh37 |
38 | 62 |
There are 5 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) |
|
Apr 1, 2021 | RCV001833036.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022