ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q31.3-32.11(chr14:85366999-90760040)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 | |||
EFCAB11 | - | - | - |
GRCh38 GRCh37 |
12 | 32 |
EML5 | - | - |
GRCh38 GRCh37 |
59 | 119 | |
FLRT2 | - | - |
GRCh38 GRCh37 |
37 | 58 | |
FOXN3 | - | - |
GRCh38 GRCh37 |
19 | 39 | |
GALC | - | - |
GRCh38 GRCh37 |
1313 | 1426 | |
GPR65 | - | - |
GRCh38 GRCh37 |
10 | 35 | |
KCNK10 | - | - |
GRCh38 GRCh37 |
33 | 58 | |
KCNK13 | - | - |
GRCh38 GRCh37 |
26 | 47 | |
NRDE2 | - | - |
GRCh38 GRCh37 |
80 | 112 | |
PSMC1 | - | - |
GRCh38 GRCh37 |
4 | 29 |
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) |
|
Dec 7, 2021 | RCV002475532.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023