ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q42.11-42.12(chr1:224340881-225147932)
Germline
Classification
(1)
Pathogenic
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 | |||
CNIH3 | - | - | - |
GRCh38 GRCh37 |
11 | 52 |
CNIH4 | - | - |
GRCh38 GRCh37 |
5 | 47 | |
DEGS1 | - | - |
GRCh38 GRCh37 |
73 | 114 | |
DNAH14 | - | - |
GRCh38 GRCh37 |
382 | 419 | |
FBXO28 | - | - |
GRCh38 GRCh37 |
29 | 75 | |
NVL | - | - |
GRCh38 GRCh37 |
27 | 72 | |
WDR26 | - | - |
GRCh38 GRCh37 |
165 | 210 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767548.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022