ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q32.3-34.1(chr4:169709270-171996798)x1
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 | |||
AADAT | - | - |
GRCh38 GRCh37 |
6 | 64 | |
CBR4 | - | - |
GRCh38 GRCh37 |
15 | 738 | |
CLCN3 | - | - |
GRCh38 GRCh37 |
79 | 142 | |
HPF1 | - | - |
GRCh38 GRCh37 |
2 | 61 | |
LOC101928198 | - | - | - |
GRCh38 GRCh37 |
- | 58 |
MFAP3L | - | - |
GRCh38 GRCh37 |
21 | 79 | |
NEK1 | - | - |
GRCh38 GRCh37 |
748 | 820 | |
PALLD | - | - |
GRCh38 GRCh37 |
1239 | 1962 | |
SH3RF1 | - | - |
GRCh38 GRCh37 |
46 | 105 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Nov 8, 2022 | RCV003222553.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 23, 2023