ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1
Germline
Classification
(1)
Pathogenic
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 |
317 | 483 | |
SKI | No evidence available | No evidence available |
GRCh38 GRCh37 |
1148 | 1298 | |
TP73 | No evidence available | No evidence available |
GRCh38 GRCh37 |
74 | 187 | |
ACAP3 | - | - | - |
GRCh38 GRCh37 |
79 | 232 |
ACTRT2 | - | - |
GRCh38 GRCh37 |
38 | 180 | |
AGRN | - | - |
GRCh38 GRCh37 |
2119 | 2398 | |
AJAP1 | - | - |
GRCh38 GRCh37 |
38 | 118 | |
ANKRD65 | - | - | - |
GRCh38 GRCh37 |
32 | 224 |
ANKRD65-AS1 | - | - | - | GRCh38 | - | 104 |
ARHGEF16 | - | - |
GRCh38 GRCh37 |
82 | 197 |
There are 333 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
|
Pathogenic (1) |
|
Nov 26, 2012 | RCV000140709.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024