ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q26.13(chr10:125920216-126732932)
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 | |||
ABRAXAS2 | - | - |
GRCh38 GRCh37 |
24 | 84 | |
CTBP2 | - | - |
GRCh38 GRCh37 |
54 | 120 | |
EEF1AKMT2 | - | - |
GRCh38 GRCh37 |
17 | 76 | |
FAM53B | - | - |
GRCh38 GRCh37 |
22 | 83 | |
LHPP | - | - |
GRCh38 GRCh37 |
26 | 89 | |
NKX1-2 | - | - | - |
GRCh38 GRCh37 |
31 | 87 |
OAT | - | - |
GRCh38 GRCh37 |
581 | 693 | |
ZRANB1 | - | - |
GRCh38 GRCh37 |
20 | 85 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002052897.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023