ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.33(chr1:1616990-1890118)x3
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 | |||
GNB1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
303 | 467 | |
CALML6 | - | - |
GRCh38 GRCh37 |
10 | 169 | |
CDK11A | - | - |
GRCh38 GRCh37 |
62 | 217 | |
CFAP74 | - | - |
GRCh38 GRCh37 |
93 | 261 | |
NADK | - | - |
GRCh38 GRCh37 |
45 | 197 | |
SLC35E2A | - | - | - |
GRCh38 GRCh37 |
26 | 179 |
SLC35E2B | - | - |
GRCh38 GRCh37 |
28 | 188 | |
TMEM52 | - | - | - |
GRCh38 GRCh37 |
22 | 181 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 17, 2023 | RCV003484003.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024