ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
CADM4 | - | - |
GRCh38 GRCh37 |
10 | 20 | |
CD177 | - | - |
GRCh38 GRCh37 |
46 | 62 | |
ETHE1 | - | - |
GRCh38 GRCh37 |
404 | 442 | |
IRGC | - | - |
GRCh38 GRCh37 |
40 | 48 | |
IRGQ | - | - | - |
GRCh38 GRCh37 |
30 | 42 |
KCNN4 | - | - |
GRCh38 GRCh37 |
87 | 100 | |
LOC112552154 | - | - | - | GRCh38 | - | 5 |
LOC112552155 | - | - | - | GRCh38 | - | 3 |
LOC116286188 | - | - | - | GRCh38 | - | 3 |
LOC116286189 | - | - | - | GRCh38 | - | 3 |
There are 47 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000054151.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024