ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.33-36.32(chr1:1515661-2349832)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 | |||
GNB1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
300 | 464 | |
SKI | No evidence available | No evidence available |
GRCh38 GRCh37 |
1069 | 1216 | |
ATAD3A | - | - |
GRCh38 GRCh37 |
271 | 441 | |
CALML6 | - | - |
GRCh38 GRCh37 |
9 | 168 | |
CDK11A | - | - |
GRCh38 GRCh37 |
55 | 210 | |
CDK11B | - | - |
GRCh38 GRCh37 |
7 | 159 | |
CFAP74 | - | - |
GRCh38 GRCh37 |
85 | 251 | |
FAAP20 | - | - |
GRCh38 GRCh37 |
9 | 155 | |
FNDC10 | - | - | - |
GRCh38 GRCh37 |
- | 151 |
GABRD | - | - |
GRCh38 GRCh37 |
384 | 548 |
There are 76 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Dec 22, 2010 | RCV000142749.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024