ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q32.31-32.32(chr14:102709744-103453834)x4
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 | |||
CDC42BPB | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
217 | 288 | |
AMN | - | - |
GRCh38 GRCh37 |
458 | 637 | |
ANKRD9 | - | - |
GRCh38 GRCh37 |
33 | 92 | |
CINP | - | - |
GRCh38 GRCh37 |
2 | 56 | |
MOK | - | - |
GRCh38 GRCh37 |
47 | 97 | |
RCOR1 | - | - |
GRCh38 GRCh37 |
30 | 115 | |
TECPR2 | - | - |
GRCh38 GRCh37 |
1358 | 1444 | |
TRAF3 | - | - |
GRCh38 GRCh37 |
324 | 424 | |
ZNF839 | - | - | - |
GRCh38 GRCh37 |
78 | 142 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 14, 2017 | RCV000848014.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022