ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p32.3(chr1:54002963-54575440)x3
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 | |||
DIO1 | - | - |
GRCh38 GRCh37 |
16 | 30 | |
GLIS1 | - | - |
GRCh38 GRCh37 |
71 | 86 | |
HSPB11 | - | - | - |
GRCh38 GRCh37 |
- | 1 |
LDLRAD1 | - | - | - |
GRCh38 GRCh37 |
16 | 30 |
LRRC42 | - | - | - |
GRCh38 GRCh37 |
16 | 30 |
NDC1 | - | - |
GRCh38 GRCh37 |
46 | 61 | |
TCEANC2 | - | - | - |
GRCh38 GRCh37 |
8 | 22 |
TMEM59 | - | - |
GRCh38 GRCh37 |
11 | 28 | |
YIPF1 | - | - |
GRCh38 GRCh37 |
24 | 38 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 15, 2017 | RCV000846106.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022