ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1
Germline
Classification
(1)
Pathogenic
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 |
296 | 454 | |
SKI | No evidence available | No evidence available |
GRCh38 GRCh37 |
1068 | 1212 | |
ACAP3 | - | - | - |
GRCh38 GRCh37 |
55 | 206 |
ACTRT2 | - | - |
GRCh38 GRCh37 |
27 | 165 | |
AGRN | - | - |
GRCh38 GRCh37 |
2079 | 2353 | |
ANKRD65 | - | - | - |
GRCh38 GRCh37 |
23 | 203 |
ANKRD65-AS1 | - | - | - | GRCh38 | - | 95 |
ATAD3A | - | - |
GRCh38 GRCh37 |
269 | 436 | |
ATAD3B | - | - |
GRCh38 GRCh37 |
90 | 263 | |
ATAD3C | - | - |
GRCh38 GRCh37 |
55 | 218 |
There are 274 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051994.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024