ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q22.3-23.1(chr14:57675327-59806898)x1
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 | |||
ACTR10 | - | - |
GRCh38 GRCh37 |
20 | 36 | |
AP5M1 | - | - |
GRCh38 GRCh37 |
24 | 42 | |
ARID4A | - | - |
GRCh38 GRCh37 |
48 | 72 | |
ARMH4 | - | - | - |
GRCh38 GRCh37 |
11 | 28 |
CCDC198 | - | - | - |
GRCh38 GRCh37 |
6 | 23 |
DAAM1 | - | - |
GRCh38 GRCh37 |
60 | 77 | |
DACT1 | - | - |
GRCh38 GRCh37 |
107 | 134 | |
EXOC5 | - | - |
GRCh38 GRCh37 |
23 | 41 | |
KIAA0586 | - | - |
GRCh38 GRCh37 |
1370 | 1392 | |
NAA30 | - | - |
GRCh38 GRCh37 |
18 | 35 |
There are 4 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 1, 2023 | RCV003326901.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024